Searchable abstracts of presentations at key conferences in endocrinology
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22nd European Congress of Endocrinology

05 Sep 2020 - 09 Sep 2020

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Europe's leading endocrinology congress showcasing the very best in the study and treatment of endocrine disorders.

Audio ePoster Presentations

Reproductive and Developmental Endocrinology

ea0070aep778 | Reproductive and Developmental Endocrinology | ECE2020

Case-control study on ACE2 expression in children with short stature

Tornese Gianluca , Tonon Federica , Nicolardi Francesca , Toffoli Barbara , Chiara Pellegrin Maria , Barbi Egidio , Fabris Bruno , Bernardi Stella

Background: Short stature is one of the most common presentations to paediatric endocrinologists. It is estimated that despite all the exams, in 50–90% of cases, children are labelled as having idiopathic short stature. It has been recently reported that genetic ACE2 deficiency is associated with reduced body weight as well as with impaired gestational weight gain and fetal growth restriction in pregnancy. It has been argued that ACE2 deficiency, which is usually associa...

ea0070aep779 | Reproductive and Developmental Endocrinology | ECE2020

Coagulation abnormalities in patients with klinefelter syndrome compared to age-matched healthy controls: Cross-sectional assessment by thrombin generation test

Indirli Rita , Profka Eriselda , Vena Walter , Cangiano Biagio , Pizzocaro Alessandro , Bonomi Marco , Clerici Marigrazia , Scalambrino Erica , Mazziotti Gherardo , Lania Andrea , Arosio Maura , Mantovani Giovanna , Tripodi Armando , Ferrante Emanuele

Introduction: Klinefelter syndrome (KS) is known to be associated with an increased risk of venous thromboembolism and arterial thrombosis, but the aetiology behind this prothrombotic status has not been fully elucidated. The aim of this study was to cross-sectionally investigate the coagulative state in subjects with KS compared to age-matched healthy males.Methods: Coagulation factors assessment, clinical characteristics collection and thrombin generat...

ea0070aep780 | Reproductive and Developmental Endocrinology | ECE2020

Radioidine (RAI) as a new therapy for the treatment of ovarian cancer through the sodium/iodide symporter (NIS)

Mirela Mielu Lidia , Paz Lopez-Molina Maria , Mingo-Casas Patricia , Rodal-Bravo Lucía , Diego-Hernandez Cristina , Pallarés Pilar , García-Jimenez Custodia , Martin-Duque Pilar , De la Vieja Antonio

Introduction: Ovarian cancer is the most lethal gynecological malignancy. Early diagnosis has a survival rate of 90%. Unfortunately, more than 70% of cases are diagnosed when the cancer has already metastasized, and survival rates do not exceed 30% in these cases. The sodium iodide symporter (NIS) is an integral plasma membrane glycoprotein expressed in the basolateral surface of the thyroid gland, where it mediates active transport of iodide. Radioiodide therapy (RAI) through...

ea0070aep781 | Reproductive and Developmental Endocrinology | ECE2020

Luteinizing hormone/choriogonadotropin receptor (LHCGR) mediates different kinetics of G proteins, β-arrestins and cAMP activation

Paradiso Elia , Benevelli Riccardo , Lazzaretti Clara , Sperduti Samantha , Brigante Giulia , Simoni Manuela , Casarini Livio

Pituitary luteinizing hormone (LH) and placental human choriogonadotropin (hCG) are two heterodimeric glycoprotein hormones regulating reproduction. They bind the same receptor (LHCGR) expressed in gonadal cells, activating hormone-specific G protein- and β-arrestins-dependent signaling cascades, before LHCGR internalization. LH induces preferential proliferative signals, while hCG activates mainly the steroidogenic pathway, reflecting their physiological roles. In this s...

ea0070aep782 | Reproductive and Developmental Endocrinology | ECE2020

New data in turner syndrome: Results from a long-term prospective observational study from diagnosis to adulthood

Corzani Francesca , Cecchetti Carolina , Oriolo Claudia , Altieri Paola , Perri Annamaria , Scarano Emanuela , Mazzanti Laura , Pagotto Uberto , Gambineri Alessandra

Turner syndrome (TS), one of the most frequent chromosomal aberrations in females, is characterized not only by structural abnormalities (somatic and congenital) but also by acquired comorbidities, such as metabolic disorders, cardiovascular alterations, autoimmune diseases, osteoporosis, and malignancies. The prevalence of structural abnormalities that usually complicate TS at diagnosis is well known. However, the prevalence of acquired complications, that may appear at any a...

ea0070aep783 | Reproductive and Developmental Endocrinology | ECE2020

Establishing an anti-müllerian hormone (AMH) cut-off to determine polycystic ovarian morphology (PCOM) supporting diagnosis of polycystic ovarian syndrome (PCOS): The APHRODITE study

Dietz de Loos Alexandra , Hund Martin , Buck Katharina , Meun Cindy , Sillman Johanna , Laven Joop

PCOS is a common pathology in women of reproductive age, and ~70% of affected women remain undiagnosed. Clinical features of PCOS include ovulatory dysfunction, hyperandrogenism and PCOM (Rotterdam criteria). Replacement of transvaginal ultrasound (TVUS) with a blood test for PCOM is clinically desirable, as lack of access to TVUS may contribute to underdiagnosis of PCOS. We aimed to derive and validate a cut-off for AMH to discriminate PCOM using the Elecsys AMH Plus imm...

ea0070aep784 | Reproductive and Developmental Endocrinology | ECE2020

Polycystic ovary syndrome is burdened with a high comorbidity rate and medication use independent of BMI: A longitudinal community based study

Kujanpää Linda , Piltonen Terhi , Arffman Riikka , Pesonen Paula , Morin-Papunen Laure , Tapanainen Juha , Franks Stephen , Järvelin Marjo-Riitta

Objective: To investigate comorbidity rate, symptoms, overall morbidity, medication useand use of health care services among women with polycystic ovary syndrome (PCOS).Design: Community-based prospective cohort study.Patients: Womenreporting oligo/amenorrhea and hirsutism at age 31 and/or PCOS diagnosis by age 46 (n = 280) and controls without PCOS related symptoms or diagnosis (n = 1573) in the Northern ...

ea0070aep785 | Reproductive and Developmental Endocrinology | ECE2020

Structural analysis of the impact of a novel androgen receptor gene mutation in two adult patients with mild androgen insensitivity syndrome

Hage Mirella , Drui Delphine , Ecomard Marie-Adèle , Mercier Sandra , Guiochon-Mantel Anne , Belaisch-Allart Joelle , Cazabat Laure , De Mazancourt Philippe , Raffin-Sanson Marie-Laure

Context: Androgen insensitivity syndrome (AIS) is a rare X-linked recessive disordercaused by mutations in the androgen receptor (AR) gene resulting in variable target tissue resistance to androgen action. The underlying molecular defect causes a spectrum of androgen dysfunction ranging from gynecomastia and/or infertility in mild AIS (MAIS) to variable degrees of ambiguous or undermasculinized genitalia in partial AIS to complete testicular feminization in complete A...

ea0070aep786 | Reproductive and Developmental Endocrinology | ECE2020

Endogenous doping: Physical exercise acutely increases testosterone levels. Results from a meta-analysis

Santi Daniele , Spaggiari Giorgia , Barbonetti Arcangelo , D’Andrea Settimio

Background: Physical exercise represents the first-line therapy in the management of metabolic diseases, considering its beneficial properties on blood pressure, glyco-lipid profile, body composition and hormonal imbalances. On the other hand, testosterone is largely investigated in the setting of competitive sport, representing the main doping source. Although endogenous testosterone levels are demonstrated to be affected by both acute exercise and resistance training, the dy...

ea0070aep787 | Reproductive and Developmental Endocrinology | ECE2020

Clinical and genetic characterization of two cases of central hypogonadism in Klinefelter syndrome

Indirli Rita , Cangiano Biagio , Profka Eriselda , Castellano Elena , Goggi Giovanni , Mantovani Giovanna , Arosio Maura , Persani Luca , Borretta Giorgio , Ferrante Emanuele , Bonomi Marco

Introduction: Klinefelter syndrome (KS) is generally characterized by late adolescence/young adulthood onset of primary hypergonadotropic hypogonadism. Fourteen cases have been previously reported on apparently unexplained isolated hypogonadotropic hypogonadism (IHH) in KS. Gonadotropins defect was variably associated with anosmia or other pituitary hormones deficiencies, but no cause could be clearly identified to explain the central defect. We describe the clinical and genet...

ea0070aep788 | Reproductive and Developmental Endocrinology | ECE2020

Clinical and genetic overlap between congenital hypogonadotropic hypogonadism and cornelia de lange syndrome

Xu Cheng , Messina Andrea , Acierno James , Niederlander Nicolas , Santoni Federico , Papadakis Georgios , Pignatelli Duarte , Avbelj Stefanija Magdalena , Keefe Kimberly , Balasubramanian Ravikumar , Crowley William , Pitteloud Nelly

Background: Congenital hypogonadotropic hypogonadism (CHH), a clinically and genetic heterogenous sydrome, is caused by > 40 known loci whose mutations share the ability to cause defects in the ontogeny of the GnRH neuron network leading to absent/incomplete puberty and infertility. Cornelia de Lange Syndrome (CdLS) is similarly heterogenous disorder (distinctive facies, psychomotor delay, growth retardation and upper limb malformation) caused by mutations in 7 different g...

ea0070aep789 | Reproductive and Developmental Endocrinology | ECE2020

X-Linked Adrenoleukodystrophy: Report of an atypical case

Fadiga Lúcia , Saraiva Joana , Catarino Diana , Reis Guiomar Joana , Alexandra Festas Silva Diana , Lavrador Mariana , Esteves Ferreira Sara , do Carmo Macário Maria , Paiva Isabel

Introduction: X-linked adrenoleukodystrophy (X-ALD) is caused by a mutation in the ABCD1 gene, which encodes for a peroxisomal very long chain fatty acid (VLCFA) transporter. Clinically, X-ALD can present a wide spectrum of phenotypes, being the most frequent Adrenomyeloneuropathy, with ataxia, spastic paraparesis, sexual and sphincter dysfunction. Adrenocortical insufficiency (AI) occurs mainly in paediatric age and it can be the first manifestation of the disease in some cas...

ea0070aep790 | Reproductive and Developmental Endocrinology | ECE2020

Clinical evaluation and genetic analysis of patients affected by premature ovarian insufficiency: Identification and characterization of a new mutation of the BMP-15

Orsolini Francesca , Ferrarini Eleonora , Agretti Patrizia , De Marco Giuseppina , Di Cosmo Caterina , Benelli Elena , Fruzzetti Franca , Tonacchera Massimo

Background: Premature ovarian insufficiency (POI) is an ovarian defect characterized from primary or secondaryamenorrhea, high levels of FSH (> 25 UI/l) and low levels of estrogen, which occurs before age 40.Objective: The aim of the study was to evaluate the clinical features and genetic causes of a group of 68 patients with POI.Methods: We performed anamnestic and clinical evaluation, hormonal and autoimmunity assessment, pel...

ea0070aep791 | Reproductive and Developmental Endocrinology | ECE2020

A case of Swyer syndrome with successful extirpation of gonadal tissues in 70 years old women

Figurova Jana , Lazúrová Ivica

A 27 year old woman was examined in 1977 because of amenorrhea andhirsutism. Hormonal evaluation revealed elevated levels of gonadotrophins simoultaneously with biochemical and clinical hyperandrogenism. Cytogenetic evaluation confirmed presence of male karyotype (46XY) and Swyer syndrome (pure gonadal dysgenesis) was diagnosed. Patient underwent laparotomy, however no gonadal tissue was found during this procedure. A few years later molecular genetic evaluation...

ea0070aep792 | Reproductive and Developmental Endocrinology | ECE2020

Ovarian mucinous cystadenoma presenting with virilization

De Vis Maarten , Cosyns Stefan , Velkeniers Brigitte

Background: Ovarian mucinous cystadenomas are classically considered as ‘non-functional’ tumors. Cystadenomas are among the most common benign ovarian neoplasms. Compared with serous cystadenomas, mucinous cystadenomas occur less frequently, are more often unilateral and can attain an enormous size. Most of these tumors are asymptomatic and found incidentally on pelvic examination or with ultrasound. We present an unusual case of a mucinous cystadenoma presenting w...

ea0070aep793 | Reproductive and Developmental Endocrinology | ECE2020

Bone mineral density in prepubertal and pubertal children with turner syndrome

Peskavaya Nadzeya , Solntsava Anghalika , Akulevich Natallia

Aim: To evaluate bone mineral density (BMD) in children with different karyotype variants of Turner syndrome (TS) depending on the stage and the onset of puberty (spontaneous or induced).Methods: The total studied group consisted of 75 children with TS from 8 to 17 years (mean age 14.2 ± 2.61), who were regularly followed-up in the University hospital (Minsk) and age matched 25 healthy controls. TS was diagnosed according to the results of karyotypi...

ea0070aep794 | Reproductive and Developmental Endocrinology | ECE2020

Investigating the impact of preoperative obesity-associated hyperandrogenemia in women and hypogonadism in men on weight loss following bariatric surgery

Beiglböck Hannes , Fellinger Paul , Ranzenberger-Haider Tamara , Itariu Bianca , Prager Gerhard , Kautzky-Willer Alexandra , Krebs Michael , Wolf Peter

Background: In severe obesity, hypogonadism in men and androgen excess in women are frequently observed. Sex hormones play an important role in body composition, glucose and lipid metabolism. Bariatric surgery is the most effective treatment strategy to combat morbid obesity. However, if preoperative gonadal dysfunction impacts weight loss and metabolic improvements after surgery is not known.Methods: 49 men and 104 women were included in a retrospective...

ea0070aep795 | Reproductive and Developmental Endocrinology | ECE2020

The vulnerability of prepubertal ovarian steroidogenesis to AhR-mediated TCDD action occurs during a time-restricted window in mice

Devillers Marie , Petit Florence , Giton Frank , François Charlotte , Juricek Ludmila , Coumoul Xavier , Magre Solange , Cohen-Tannoudji Joëlle , Guigon Celine

Background: In females, timing of puberty and fertility require estradiol (E2) action at the infantile and late juvenilestages and are tightly influenced by environmental cues. A regulator of intra-ovarian E2 synthesis during reproductive life is the aryl hydrocarbon receptor (AhR). However, its action on E2 synthesis and its capacity to mediate the effect of endocrine disrupting chemicals (EDC)s has not been thoroughly evaluated during the prepubertal period.<p class="abs...

ea0070aep796 | Reproductive and Developmental Endocrinology | ECE2020

The association between hormone replacement therapy and sarcopenia in postmenopausal women: The korea national health and nutrition examination survey, 2008–2011

Kim Sung Woo , Kim Jinu , Jeon Eonju , Lee Ji-Hyun , Shon Ho-Sang

Objective: Menopausal transition contributes to sarcopenia, but the effects of hormone replacement therapy (HRT) on sarcopenia in postmenopausal women have not been determined. This study assessed the effect of HRT on sarcopenia in postmenopausal women.Methods: The present study included 4,254 postmenopausal women who participated in the Korea National Health and Nutritional Examination Surveys in 2008–2011. Appendicular skeletal muscle mass divide...

ea0070aep797 | Reproductive and Developmental Endocrinology | ECE2020

Ovarian reserve and serum concentration of thyroid peroxidase antibodies in euthyroid women with different polycystic ovary syndrome phenotypes

Adamska Agnieszka , Lebkowska Agnieszka , Krentowska Anna , Pliszka Justyna , Adamski Marcin , Leśniewska Monika , Kowalska Irina

Objective: It has been shown that women with PCOS as well as with autoimmune thyroiditis (AIT), are characterized by increased incidence of infertility. Serum anti-Müllerian hormone (AMH), which reflects ovarian reserve, is elevated in PCOS women and is decreased in women with AIT. The Rotterdam criteria recognize four clinical PCOS phenotypes,i.e.,phenotype Acharacterized by clinical and/or biochemical hyperandrogenism (HA), menstrual dysfunction (oligo/amenorrhea) (Olig...

ea0070aep798 | Reproductive and Developmental Endocrinology | ECE2020

Comparison of three automated assays of AMH

Lauro Cindy , Sieuw Aurélie , Ion Andrea , Corcuff Jean-Benoît , Brossaud Julie , Georges Agnès

Anti-Mullerian Hormone (AMH) is a 140 kDa gonadal glycoprotein of the TGFβ family, with two subunits linked by two disulfide bridges. Since a first assay in 1990, three generations of assays occurred: the 1st and 2nd were manual assays. The 3rd was automated: Access AMH Kits (Beckman Coulter) and Elecsys AMH (Roche). We had the opportunity to compare two new analysers with the Elecsys AMH: Vidas (Biomérieux) and Lumipulse G (Fujirebio). The later are one-step sandwic...

ea0070aep799 | Reproductive and Developmental Endocrinology | ECE2020

Investigation of the mechanism of action of duodenal mucosal resurfacing in insulin resistant women with polycystic ovarian syndrome. the DOMINO multicentre randomised controlled trial

Dimitriadis Georgios K. , Kaur Vasha , Pérez-Pevida Belen , Bansi Davinder , Jayasena Channa , Bate Danielle , Fielding Barbara , Balfoussia Danai , Webber Lisa , Miao Yun , Mears Frederick , Jackson Nicola , Coppin Lucy , Johnson Brett , Umpleby Margot , Randeva Harpal S , Miras Alexander D

Introduction: Duodenal mucosal resurfacing (DMR) is a novel therapy for T2DM. It involves the hydrothermal ablation of up to 14 cm of the duodenal mucosa through a specially designed endoscopic catheter. The procedure is performed under general anaesthesia, patients are discharged the same day and it does not involve the implantation of a foreign body. Cohort studies have demonstrated that DMR induces meaningful hbA1c reductions of 0.9–1.4% by 3 months that are largely m...

ea0070aep800 | Reproductive and Developmental Endocrinology | ECE2020

Early decreases in testosterone levels in healthy adult men: A longitudinal analysis.

Banica Thiberiu , Verroken Charlotte , Zmierczak Hans-Georg , Goemaere Stefan , Reyns Tim , Fiers Tom , Kaufman Jean-Marc , Lapauw Bruno

Introduction: Although it is well-known that serum testosterone (T) levels decrease in ageing men, to this date no longitudinal data are available on changes in T levels in healthy young adult men.Objective: To investigate age-related longitudinal changes in serum levels of total T, free T and sex hormone binding globulin (SHBG) in healthy young men.Methods: Data from 999 healthy men aged 24–46years who participated in a long...

ea0070aep801 | Reproductive and Developmental Endocrinology | ECE2020

11-Ketotestosterone is the Predominant Androgen in Castration Resistant Prostate Cancer

Snaterse Gido , van Dessel Lisanne F , van Riet Job , Taylor Angela E , Visser Jenny A , Arlt Wiebke , Lolkema Martijn P , Hofland Hans

Background: The treatment of metastatic castration-resistant prostate cancer (CRPC) remains dependent on Androgen Receptor (AR) mediated signalling, thus understanding all components involved in testosterone signalling in these men is of utmost importance. Recent studies have identified 11-ketotestosterone (11 KT) as a potent androgen receptor (AR) agonist present in humans. However, it is unknown if 11 KT is present at physiologically relevant concentrations in CRPC patients....

ea0070aep802 | Reproductive and Developmental Endocrinology | ECE2020

Pituitary response to GnRH stimulation in patients with secondary hypogonadism is modulated by different FSHB -211 G/T genotypes

Sansone Andrea , Schubert Maria , Tüttelmann Frank , Zitzmann Michael , Krallmann Claudia , Kliesch Sabine , Gromoll Jörg

Background: The FSHB –211 G > T single nucleotide polymorphism (SNP) is known to affect pituitary FSH output by reducing the transcriptional activity of FSHB. Identifying the response of the pituitary to exogenous GnRH stimulation in subjects with FSHB -211 G > T SNP could provide useful information concerning the mechanisms regulating FSH synthesis and release.Objectives: This study aimed to assess the pituitary...

ea0070aep803 | Reproductive and Developmental Endocrinology | ECE2020

TU score: A new proposal for an ultrasound scoring system to predict testicular function

Carlomagno Francesco , Pozza Carlotta , Gianfrilli Daniele , Tenuta Marta , Sesti Franz , Mazzotta Paola , Lenzi Andrea , Isidori Andrea

Background: Testicular ultrasound (US) is routinely employed in the evaluation of reproductive and sexual function. However, its use for characteristics other than testicular volume is hampered by a lack of information on the prognostic value of its findings, that to date have only been incorporated in a score proposed by Lenz et al. in 1993.Objectives: We sought to explore whether testicular US examination can predict spermatogenesis and provid...

ea0070aep804 | Reproductive and Developmental Endocrinology | ECE2020

Effects of testosterone replacement therapy on circulating resistin levels in obese hypogonadal men

Assyov Yavor , Gateva Antoaneta , Karamfilova Vera , Nedeva Iveta , Gatev Tsvetan , Velikova Tsvetelina , Kamenov Zdravko

Objective: The beneficial effects of testosterone replacement therapy (TRT) in men with hypogonadism on the body composition and metabolic parametersare well-established, but the intimate mechanisms of these effects are not fully understood. Resistin is a small protein that is involved in the regulation of glucose metabolism and is considered to be key in the development of insulin resistance and to induce proinflammatory effects. We hypothesize that TRT has an impact on the a...

ea0070aep805 | Reproductive and Developmental Endocrinology | ECE2020

Hypogonadism and testis impairment in patients with amyloidosis due to Apo A-I Leu75Pro mutation

Facondo Paolo , Delbarba Andrea , Chiara Pezzaioli Letizia , Di Lodovico Elena , Cappelli Carlo , Scolari Francesco , Ferlin Alberto

Introduction: Amyloidosis due to Apo A-I Leu75Pro mutation is a rare form of hereditary amyloidosis with systemic involvement mainly of testicle, kidney and liver. This disease finds a wide prevalence in the province of Brescia (Northern Italy), which represents a geographic uniqueness for the spread of this amyloidosis form. Somefeatures of this disease have not yet been described.Purpose: To describe the frequency of organ damages in this amyloidosis f...

ea0070aep806 | Reproductive and Developmental Endocrinology | ECE2020

Seasonal changes of serum gonadotropins and testosterone in men revealed by a large data set of real-world observations over nine years

Spaggiari Giorgia , Raffaele Michele Granata Antonio , Setti Monica , Tagliavini Simonetta , Trenti Tommaso , Simoni Manuela , Santi Daniele

Background: Environmental rhythmicity seems able to affect the hypothalamic-pituitary-gonadal axis in animals to achieve reproductive advantages. However, conflicting results were obtained when assessing the environmental-dependent rhythmicity on reproductive hormone secretion in humans.Aim of the study: This study was designed to evaluate seasonal fluctuations of the main hormones involved in the hypothalamic-pituitary-gonadal axis in men, using a big d...

ea0070aep807 | Reproductive and Developmental Endocrinology | ECE2020

Genetic background and previous androgenization are associated with reproductive and non-reproductive outcomes of Gonadotropin-mediated pubertal induction in Congenital Hypogonadotropic Hypogonadism (CHH)

Cangiano Biagio , Goggi Giovanni , Federici Silvia , Guizzardi Fabiana , Vezzoli Valeria , Duminuco Paolo , Persani Luca , Bonomi Marco

CHH is a rare disease with a relevant genetic background, and is characterized by a failure to enter (complete forms) or to complete (partial forms) pubertal development. It requires a treatment to allow the completion of puberty, and in male this goal can be achieved either using testosterone replacement therapy or administering gonadotropins (Gn); the latter allows both testicular development and the endogenous testosterone production. There are few studies evaluating the th...

ea0070aep808 | Reproductive and Developmental Endocrinology | ECE2020

Androgen receptor inhibition by 4, 4’ DDE is reduced by mutations in the BF3 site

Lozano Andrea , Torres Justo , Resto Tahyra , Dean Frank

Androgen receptor (AR) is an important target for inhibition by some endocrine disrupting chemicals. Some diphenyl compounds inhibit AR activity by binding to a hydrophobic surface binding site, BF3. A similar diphenyl structure is found in 4.4’ DDT and its breakdown product 4.4’ DDE. Previous results showed that DDT, DDE, and related compounds induced the release of bound dihydrotestosterone from the AR ligand binding domain with IC50 values ranging fro...

ea0070aep809 | Reproductive and Developmental Endocrinology | ECE2020

Computational study of the allosteric effects of the androgen receptor BF3 site mutations on steroid unbinding

Kotsikorou Evangelia , Dean Frank , Chowdhury Muniruzzaman

Experimental results have shown that the presence of endocrine disrupting chemicals (EDCs) such as the diphenyl compound DDT and its analogue DDE, allosterically cause the release of the stably bound dihydrotestosterone (DHT) from the steroid binding site of the Androgen Receptor (AR) ligand binding domain. It was hypothesized that EDCs mediate this effect via binding to the Binding Function 3 (BF3) surface binding site. Mutations of three BF 3 amino acids (F673K, F673W, G724R...

ea0070aep810 | Reproductive and Developmental Endocrinology | ECE2020

Prenatal programming of hepatic lipid metabolism: Sex, hormones and lifelong health

Siemienowicz Katarzyna , Filis Panagiotis , Talia Chiara , Thomas Jennifer , Fowler Paul , Duncan Colin , Rae Mick

Background: The potential for a healthy life is programmed by in utero development. Fetal development is impacted by perturbed hormonal signalling, with lifelong consequences. Polycystic Ovary Syndrome (PCOS), affecting over 10% of women, is an important condition linked to an altered prenatal endocrine environment. Women with PCOS have increased androgen concentrations, including during pregnancy. Increased prenatal androgen exposure is associated with a PCOS-phenoty...

ea0070aep811 | Reproductive and Developmental Endocrinology | ECE2020

Urinary bisphenol A (BPA) and its relation to insulin growth factor (IGF) system in polycystic ovary syndrome

Lazúrová Ivica , Lazurova Zora , Figurová Jana , Hubkova Beata , Mareková Maria

Objectives: There is a growing evidence suggesting an impact of endocrine distrupting chemicals, including bisphenol A (BPA) on human reproduction. Insulin growth factors (IGF) play signifcant role inhuman reproduction. However the relationship between BPA and IGF system is unknown. Aim of the pilot study was to assessthe relationship between urinary BPA (U-BPA) and insulin growth factors (IGF-1, IGF-2, IGFBP 3) as well as metabolic parametersin PCOS women.<p class="a...

ea0070aep812 | Reproductive and Developmental Endocrinology | ECE2020

Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency

Bromińska Barbara , Komarowksa Hanna , Ruchała Marek

Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency.Introduction: Congenital adrenal hyperplasia is a heterogenic group of disorders. Shared feature is a deficiency of one of the enzymes which are necessary for steroid synthesis. Due to wide clinical spectrum and rarity of the disease diagnosis can be challenging. Hereby we present the case of the patient, who after prolonged period of time was finally diagnosed with 3-be...

ea0070aep813 | Reproductive and Developmental Endocrinology | ECE2020

Endocrinological aspects of woodhouse-sakati syndrome: Report of a new nucleotide variant DCAF17 homozygous mutation in the first family case in russia

Amosova Maria , Gurova Olesya , Poluboyarinova Irina , Fadeyev Valentin

Introduction: Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disorder characterized by diabetes, hypogonadism, hypothyroidism, sensorineural hearing loss, alopecia totalis, extrapyramidal findings and specific changes on ECG. This syndrome belongs to a heterogeneous group of neurodegenerative disorders and is caused by mutations of the DCAF17 gene. Treatment is symptomatic and patients are managed by multidisciplinary teams. About 90 cases were reported since 20...

ea0070aep814 | Reproductive and Developmental Endocrinology | ECE2020

Early impact of cross-sex steroids on body composition and metabolic profile in young transgender subjects

Consolandi Pierre , Pascal Veronique , Samhani Caroline , Larose Clement , Bohme Philip , Marc Klein , Ziegler Olivier , Feigerlova Eva

Background: In females transitioning to males (FtM) and in males transitioning to females (MtF), exogenous cross-sex steroids are prescribed to favour development of secondary characteristics of desired sex, while endogenous hormone production is inhibited.Aims and design: To study early impact of cross-sex steroids on body composition, metabolic profile and pro-inflammatory parameters in young transgender persons before and after 12 months of gender-aff...

ea0070aep815 | Reproductive and Developmental Endocrinology | ECE2020

The frequency nonclassic congenital adrenal hyperplasia in adolescent girls with primary oligomenorrhea and amenorrhea

Gumeniuk Olga , Chernenkov Yuriy

Objective: Nonclassic congenital adrenal hyperplasia (NCCAH, NCAH) or late onset congenital adrenal hyperplasia (LOCAH) is a specific type of congenital adrenal hyperplasia due to P450c21 (21-hydroxylase) deficiency with variable degrees of postnatal androgen excess, is sometimes asymptomatic (Kohn B et al. 2010; Speiser PW et al., 2010). To study the frequency NCCAH in adolescent girls.Patients and Methods: The prevention examination o...

ea0070aep816 | Reproductive and Developmental Endocrinology | ECE2020

Relapsing meningiomas in a transfemale treated with cyproterone acetate. Case and literature review

pazos Fernando , Bertholt Zuber Laura , Oliver arias Roberto

A 40-year-old transfemale, regularly treated with oral estradiol (2 mg per day) and CPA (100 mg per day) for the last 15 years, presented with two asymptomatic intracranial lesions on compatible with meningiomas. Gender dysphoria since the age of 14, begins treatment in 2006. Paranoid schizophrenia at age 17. She referred to occasional headaches, without neurological defect. In the year 2013, a magnetic resonance imaging (MRI) scan revealed an expansive lesion over the sphenoi...

ea0070aep817 | Reproductive and Developmental Endocrinology | ECE2020

Hutchinson – gilford progeria syndrome – a portuguese rare case

Catarino Diana , Bastos Margarida , Ribeiro Cristina , Fadiga Lucia , Silva Diana , Guiomar Joana , Lavrador Mariana , Vieira Inês , Araújo Cátia , Araújo Bárbara , Dinis Isabel , Mirante Alice , Paiva Isabel

Introduction: Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare disease (1:4 million) characterized by a fatal premature aging. There are 162 cases worldwide, five of them in Portugal. It is caused by a sporadic autosomal dominant mutation in LMNA gene that encodes an abnormal variant of the laminin-A protein, named progerin. Although most babies born looking healthy, they begin to display some characteristics of Progeria around 18–24 months of life. The ear...

ea0070aep818 | Reproductive and Developmental Endocrinology | ECE2020

Epidemiology, clinical features and management of multiple endocrine neoplasia Type 1 – a two-center study

Zgliczynski Stanislaw , Bednarczuk Tomasz , Rogozik Natalia , Kochman Magdalena , Wojciech Zgliczynski

Background: Multiple Endocrine Neoplasia Type 1 (MEN1) is a rare, autosomal dominant disease characterized by the coexistence of at least two of the following: primary hyperparathyroidism (PHPT), neuroendocrine tumors (NET) and pituitary tumors. The aim of the study was to evaluate epidemiology, clinical features and management of MEN1 patients in two referral centers in Warsaw, Poland.Material and Methods: Study group consisted of 52 patients, aged from...

ea0070aep819 | Reproductive and Developmental Endocrinology | ECE2020

Fetal anogenital distance is longer in polycystic ovary syndrome mothers

Perlman Sharon , Toledano Yoel , Halevy Nufar , Kivilevitch Zvi , Gilboa Yinon

Aim: Anogenital distance (AGD) is a biomarker for the prenatal hormonal environment. Scarce evidence exists regarding the effect of prenatal androgen exposure in mothers with polycystic ovary syndrome (PCOS) on the human fetal AGD. The aim of the study was to assess the prenatal sonographic measurement of AGD in fetuses of PCO mothers vs the general population.Materials and methods: AGD was measured prospectively infetuses at 26–37 weeks of gestati...

ea0070aep820 | Reproductive and Developmental Endocrinology | ECE2020

BMI may be a better predictor of cardiovascular risk than PCOS phenotype in a population of reproductive age PCOS patients

Pandurevic Srdjan , Pizzi Carmine , Fanelli Flaminia , Vicennati Valentina , Pelusi Carla , Di Dalmazi Guido , Pagotto Uberto , Gambineri Alessandra

Introduction: Women with polycystic ovary syndrome (PCOS) are considered to have increased risk of cardiovascular disease (CVD), even though the syndrome encompasses hugely varying phenotypes. Research into CVD prevention demonstrated a variety of biochemical and ultrasound (US) markers predicting risk in the general population, but those are sparsely utilised for PCOS, in part due to the patients’ therapeutic goals.Aim: To evaluate if PCOS type or...

ea0070aep821 | Reproductive and Developmental Endocrinology | ECE2020

Prevalence and prognostic factors of dysglycemia in women with polycystic ovary syndrome: Findings from large caucasian cohort

Livadas Sarantis , Bothou Christina , Kuliczkowska-Płaksej Justyna , Robeva Ralitsa , Vryonidou Andromahi , Bjekic Macut Jelica , Androulakis Ioannis , Mouslech Zadalla , Milewicz Andrej , Panidis Dimitrios , Macut Djuro

Background: Insulin secretory defects and insulin resistance exists in women with polycystic ovary syndrome (PCOS) and are prerequisites for the development of type 2 diabetes (T2D). we aimed to determine the prevalence of T2D, impaired glucose tolerance (IGT) and impaired fasting glucose (IFG), as well as the factors associated with these dysglycemic conditions in this population.Methods: 1614 PCOS women of Caucasian origin (Rotterdam criteria) with a m...

ea0070aep822 | Reproductive and Developmental Endocrinology | ECE2020

An assessment of the level of physiological stress in terms of release of cortisol, epinephrine, norepinephrine, prolactin and growth hormone and their relationship with ghrelin in normal and short stature children

Kausar Nighat , Akram Maleeha , Shahid Gulbin , Ahmed Naseem Afzaal , Qayyum Mazhar , Tahir Faheem , Jahan Sarwat , Afshan Kiran , Rafi Muhammad , Shakeel Raza Rizvi Syed

The short children have lower social competence and show more social problems than children with normal stature. The physical appearance has consequences in terms of how short stature children are judged and treated by others as they can be teased or bullied due to short stature, which may affect future prospects of finding a job or a spouse. These psychosocial stressors are risk factors for the psychological adjustment for children of short stature. Stress responses are activ...

ea0070aep823 | Reproductive and Developmental Endocrinology | ECE2020

Testosterone levels are the main determinant of prostate volume in men with chronic spinal cord injury

Barbonetti Arcangelo , D’Andrea Settimio , Minaldi Elisa , Totaro Maria , Parisi Antonio , Francavilla Sandro , Francavilla Felice

Men with spinal cord injury (SCI) exhibit a prostate volume significantly smaller compared to age-matched able-bodied men1–3. As men with chronic SCI (lasting more than 1 year) also display a very high prevalence of androgen deficiency4,5, a protective role of low testosterone against prostate enlargement could be hypothesized in this population. This study aimed to identify independent determinants of prostate volume in men with chronic SCI. As ass...

ea0070aep824 | Reproductive and Developmental Endocrinology | ECE2020

Transphobic attitude: In physicians who play an active role in the gender transition process

Durcan Emre , Sahin Serdar , Durcan Gizem , Kavla Yasin , Mefkure Ozkaya Hande , Turan șenol , Kadıoğlu Pınar

Transphobia is expressed as negative attitudes, emotions and actions towards transgender individuals or transsexualism. The aim of this study is to investigate the existence of transphobic approaches towards transgender individuals in physicians in different clinics that play an active role in the gender transition process. It was planned to include physicians from the disciplines of psychiatry, endocrinology, gynecology, urology and plastic surgery. A questionnaire was sent t...

ea0070aep825 | Reproductive and Developmental Endocrinology | ECE2020

Influence of air pollutants of vehicular origin in hormonal and seminal parameters of traffic controllers

Maria Frade Costa Elaine , de Nóvoa Cardoso Paulo , Afonso Teixeira Thiago , Kim Hsieh Mariana , Renck Alessandra , Andrietta Juliana , Risso Pariz Juliana , Hallak Jorge , Hilario Nascimento Saldiva Paulo

Sao Paulo is the most populous city in Brazil and its huge number of vehicles contributes for a higher concentration of air pollutants that may interfere in human fertility. The aim of this study was to evaluate the influence of air pollution of vehicular origin on hormonal and seminal parameters of traffic controllers. Clinical history, physical examination (testicular volume, presence of varicocele, cryptorchidism, malformations), hormonal (estradiol, LH, FSH and total testo...

ea0070aep826 | Reproductive and Developmental Endocrinology | ECE2020

Assessment of the status of the pituitary-gonadal axis in men who have been using androgenic anabolic steroids for a long time

Lykhonosov Mykola , Babenko Alina Y. , Makarin Viktor A. , Fedotov Yuri N

Background: The study of the state of the pituitary-gonadal axis (PGA) in users of anabolic androgenic steroids (AAS) is important. The severity of inhibition of luteinizing (LH), follicle-stimulating (FSH) hormones, total testosterone (Tt), inhibin B may depend on the type of AAS used, its doses, the simultaneous use of several types of AAS and the duration of their administration.Aim: To evaluate the levels of LH, FSH, Tt and Inhibin B depending on the...

ea0070aep827 | Reproductive and Developmental Endocrinology | ECE2020

Testosterone (T) is poorly related to sexual desire and Erectile Dysfunction (ED) in Young/Middle Aged Human immunodeficiency virus (HIV)-Infected Men

De Vincentis Sara , Chiara Decaroli Maria , Diazzi Chiara , Morini Fabio , Bertani Davide , Fanelli Flaminia , Mezzullo Marco , Santi Daniele , Tartaro Giulia , Baraldi Enrica , Tagliavini Simonetta , Pagotto Uberto , Guaraldi Giovanni , Rochira Vincenzo

Background: ED is highly prevalent in HIV-infected men. T leads sexual behavior in men, but preliminary data suggests that ED is poorly related to serum T in HIV--infected men.Aim: To explore the relationship between sexual function and gonadal function in young/middle-aged HIV-infected men.Methodology: Prospective, cross-sectional, observational study on HIV-infected men (age <50 years). Serum TT was assessed by the gold stand...

ea0070aep828 | Reproductive and Developmental Endocrinology | ECE2020

Partial androgen insensitivity: A case report

Laamouri Rihab , Najla Bchir , Chadia Zouaoui , Salem Maram Ben , Amel Jaidane , Haroun Ouertani

Introduction: Androgenic insensitivity syndrome (AIS) is an X-linked genetic disease characterized by resistance to the actions of androgen in an individual with 46, XY karyotype. It is the most common cause of DSD in 46, XY individuals.Case report: We report a case of a 16-year-old girl who consulted for primary amenorrhea and hirsutism. Our patient had a 9-year-old sister who was operated for an inguinal hernia and the anathomopathological study conclu...

ea0070aep829 | Reproductive and Developmental Endocrinology | ECE2020

Gut microbiota and oral contraceptive use in polycystic ovary syndrome

Eyupoglu Damla , Ergunay Koray , Acikgoz Aylin , Akyon Yakut , Yilmaz Engin , Okan Yildiz Bulent

Context: Polycystic ovary syndrome (PCOS) is a common and complex endocrine disorder. Emerging animal and human data point out to various changes in microbiota that could be linked with the syndrome. However, the effects of therapeutic approaches on gut microbial composition in women with PCOS remain unknown.Objective: We aimed to assess whether gut microbial composition is altered in overweight/obese women with PCOS and to determine potential impact of ...

ea0070aep830 | Reproductive and Developmental Endocrinology | ECE2020

Anti-müllerian hormone (AMH) as the primary marker for ovarian reserve in transgender male, with or without pcos, under cronic testosterone treatment

Modrego Pardo Ines , Gómez Balaguer Marcelino , Garzón Pastor Sandra , Morillas Ariño Carlos

Background: AMH represents a marker of ovarian reserve and is used in monitoring the effects of gonadotoxic drugs. In PCOS is higher and is an indirect marker of hyperandrogenism. In transsexual man(TM), high prevalence of PCOS is described and AMH provide information about ovarian reserve after exposure to testosterone.Objective: To assess the prevalence of PCOS in young TM previously to testosterone treatment, study the evolution of AMH levels and diff...

ea0070aep831 | Reproductive and Developmental Endocrinology | ECE2020

The association of serum miR-27a and miR-320 level with glucose metabolism and insulin sensitivity in young women with polycystic ovary syndrome

Krentowska Anna , Ponikwicka-Tyszko Donata , Lebkowska Agnieszka , Adamska Agnieszka , Sokolowska Gabriela , Sztachelska Maria , Hryniewicka Justyna , Wolczynski Slawomir , Kowalska Irina

Introduction: Polycystic ovary syndrome (PCOS) is associated with an increased risk of insulin resistance. The involvement of microRNAs, small, non-coding molecules, in regulation of metabolic processes has been investigated. The role of miR-27a and miR-320 in regulation of glucose metabolism is documented. The aim of the study was to assess the level of circulating miR-27a and miR-320 in PCOS patients and to investigate its relationship with glucose metabolism.<p class="a...

ea0070aep832 | Reproductive and Developmental Endocrinology | ECE2020

Male hypogonadism and sarcopenia

Dinçer Yazan Ceyda , Apaydin Tugce , Gogas Yavuz Dilek

Background and aim: Low testosterone levels are known to be associated with unfavorable body composition and testosterone replacement is known to be associated with increased muscle mass and muscle strength. The aim of this cross-sectionalstudy is to evaluate the grip strength, appendicular muscle mass and physical performance and bone mineral densities of hypogonad male patients.Method: 75 hypogonad and 45 healthy control subjects were included in this ...

ea0070aep833 | Reproductive and Developmental Endocrinology | ECE2020

First in man study of oral native testosterone in hypogonadal men shows physiological testosterone levels in fed and fasted state

Newell-Price John , Porter John , Quirke Jo , Daniel Eleni , Mumdzic Enis , Ross Richard

Introduction: Current testosterone replacement therapies have limited acceptability: gels can be messy and risk inadvertent dosing of others; injections are painful; and oral testosterone undecanoate (TU) delivers variable testosterone levels, requires concurrent ingestion of a fatty meal and may produce supraphysiological dihydrotestosterone (DHT) levels1. We present the first human trial of an oral native testosterone preparation formulated to deliver testosterone...

ea0070aep834 | Reproductive and Developmental Endocrinology | ECE2020

Vaginal bleeding and spotting in transgender men after initiation of testosterone therapy: A prospective cohort study (ENIGI)

Defreyne Justine , Vanwonterghem Yuran , Collet Sarah , Iwamoto Sean , Wiepjes Chantal , Fisher Alessandra , Schreiner Thomas , den Heijer Martin , T’Sjoen Guy

Background: Persistent vaginal bleeding can be psychologically stressful and incongruent with gender identity in transgender men (assigned female at birth with male gender identity). Previous studieshave cross-sectionally described amenorrhea in cohorts of transgender men on intramuscular or subcutaneous testosterone injections. It remains uncertain which testosterone preparations most effectively suppress vaginal bleeding and when amenorrhea occurs after testosterone initiati...

ea0070aep835 | Reproductive and Developmental Endocrinology | ECE2020

Autoimmune characteristics in women with addisons disease and primary ovarian insufficiency

Vogt Elinor , Øksnes Marianne , Husebye Eysetein

Background: In women with autoimmune primary adrenal failure (AD) there is a high prevalence of autoimmune primary ovarian failure (POI). Whether the oophoritis is caused by an unknown ovary-specific autoantibodyor cross-autoimmunity with steroid hormone producing cells in the adrenal cortex is unknown. Autoimmune POI can also affect women without AD. Autoantibodies against steroidogenic enzymes are useful diagnostic markers in AD but are of uncertain value in idiopathic POI.<...

ea0070aep836 | Reproductive and Developmental Endocrinology | ECE2020

Early menopause is associated with increased risk of arterial hypertension: A systematic review and meta-analysis

Anagnostis Panagiotis , Theocharis Patroklos , Lallas Konstantinos , Konstantis Georgios , Mastrogiannis Konstantinos , Bosdou Julia , Lambrinoudaki Irene , Stevenson John , Goulis Dimitrios

Objective: Menopausal transition has been associated with an increased risk of cardiovascular disease (CVD), mainly attributed to atherogenic dyslipidaemia, central obesity and insulin resistance. Whether arterial hypertension (AH) also contributes to menopause-associated CVD is currently unknown. The aim of this study was to systematically investigate and meta-analyze the best available evidence regarding the association between early menopause (EM) and AH risk.<p class="...

ea0070aep837 | Reproductive and Developmental Endocrinology | ECE2020

Multicentre performance evaluation of the new, fully automated Elecsys ASD immunoassay and determination of reference ranges

Obermayer-Pietsch Barbara , Imdahl Roland , de Ramon Marta , Reichmuth Claudia , Bendig Garnet , Hutzler Stefan , Taibon Judith , Rank Christopher , Findeisen Peter

Background: Androstenedione (ASD) levels are used to assess androgen production, adrenal gland and ovarian/testicular function, and diagnosis/monitoring of patients with hyperandrogenism from suspected cortisol-related enzyme deficiencies. According to international diagnostic guidelines, ASD can confirm biochemical hyperandrogenism in suspected polycystic ovary syndrome (PCOS) when total/free testosterone are not elevated. The Elecsys ASD assay (Roche Diagnostics) is a compet...

ea0070aep838 | Reproductive and Developmental Endocrinology | ECE2020

Modifications of autoimmune markers in women with infertility and autoimmune thyroiditis

Koval Halyna , Pashkovska Nataliia , Abramova Nataliia , Pankiv Ivan , Piddubna Antonina , Marchuk Yulia , Tsaryk Iryna

Introduction: Thyroid hormones affect sex hormone metabolism and reproductive function in women. Infertility in women with autoimmune thyroiditis is more difficult to treat than in women with normal thyroid function. On the other hand, immune factors are dependent on exogenous and endogenous factors, interrelated with hormones and are important regulators of fertility, autoimmune reactionsand can lead to infertility and increase the risk of pregnancy complications and miscarri...

ea0070aep839 | Reproductive and Developmental Endocrinology | ECE2020

The diagnostic value of antimullerian hormone in polycystic ovary syndrome among Tunisian women: A case-control prospective study

Bennour Marwa , Kammoun Ines , Braham Marouen , Kandara Hajer , Hamdoun Manel , Fadhlaoui Anis , Bahri Olfa , Zhioua Fethi , Jmal Manel

Introduction: Polycystic ovary syndrome (PCOS) is a common endocrine disorder. The presence of polycystic ovarian morphologyis usually confirmed by ovarian ultrasound. However, its definition is controversial. The objective of this study was to evaluate the interest of the antimullerian hormone (AMH) in the diagnosis of PCOS, aiming to establish a threshold that would be predictive of PCOS among Tunisian women.Patients and Methods: Sixty-twoyoung women (...

ea0070aep840 | Reproductive and Developmental Endocrinology | ECE2020

Hormonal profile of menopausal women receiving androgen replacement therapy: A meta-analysis

Santi Daniele , Spaggiari Giorgia , Sojat Antoan S , Pandurevic Srdjan , Maseroli Elisa , Marina Ljiljana

Background: Ovarian and adrenal aging leads to a progressive decline in androgens levels and deleterious effects on the quality of life. Despite this, specific hormone replacement is not routinely recommended in the management of women with a physiological or pathological decline in their production, mainly due to the lack of long-term follow-up safety data.Aim of the study: To evaluate and summarize the existing data about hormonal profile changes in me...

ea0070aep841 | Reproductive and Developmental Endocrinology | ECE2020

Androgens in women – the methods for their determination

Duskova Michaela , Kolatorova Lucie , Starka Luboslav

Four androgens are routinely measured in women: dehydroepiandrosterone sulfate (DHEAS), dehydroepiandrosterone (DHEA), androstenedione, and testosterone. The diagnosis of hyperandrogenemia in women is accompanied by many difficulties. One of them is the method used to measure androgens in the laboratory. In most laboratories, androgens are determined using various immuno-analytical methods. Recently, gas or liquid chromatography combined with mass spectrometry have begun to be...

ea0070aep842 | Reproductive and Developmental Endocrinology | ECE2020

Evaluation of erectile dysfunction leading to a diagnosis of myotonic dystrophy

Togias Stefanos , Stergiotis Stefanos , Kakoulidis Ioannis , Ilias Ioannis , Koukkou Eftychia

Erectile dysfunction is a common complaint of men with hypogonadism. We present the case-history of a 42-year-old man who complained of erectile dysfunction for four years. Previous paternity was mentioned in his past medical history. On clinical examination his appearance was eunuchoid with frontal balding, reduced chest hair and lipomastia. Bilateral ptosis was also noticed and after being questioned the patient admitted that he had surgically repaired eyelid ptosis one year...

ea0070aep843 | Reproductive and Developmental Endocrinology | ECE2020

Hyperandrogenism in a postmenopausal woman secondary to an androgen secreting steroid cell tumor of the ovary

Bastos Filipa , Franco Sara , Ferreira Ana , Manita Isabel , Portugal Jorge

Introduction: Androgen secreting neoplasms of the ovary are rare and usually show autonomous secretion. Steroid cell tumors of the ovary represent less than 0.1% of all ovarian tumors and are a subgroup of sex cord-stromal tumors. In most cases, patients present with androgenic clinical features.Case report: A 58-year-old woman complained of rapid onset of androgenic alopecia, excessive hirsutism and clitoromegaly. Endocrine assessment showed high levels...

ea0070aep844 | Reproductive and Developmental Endocrinology | ECE2020

Severe hyperandrogenaemia and unusually large polycystic ovaries: A case report

Khan Uzma , Randeva Harpal

Introduction: Polycystic ovary syndrome (PCOS) is the most common endocrine disorder of young women and depending on the diagnostic criteria, it affects 6% to 20% of reproductive aged women. PCOS is also the most common cause of hyperandrogenism in young women with the theca cells of the ovary being the source of androgen excess. PCOS is rarely associated with severe hyperandrogenaemia and atypical features such as rapid progression, presence of virilization or very high Testo...

ea0070aep845 | Reproductive and Developmental Endocrinology | ECE2020

The effect of diabetes mellitus on age at natural menopause: A systematic review

Vlachou Eugenia , Ntikoudi Anastasia , Fasoi Georgia , Avrampou Vasiliki , Boulazeri Smaragdi , Govina Ourania , Komninos John

Introduction: Menopause marks a period of significant changes on hormones and on the women’s lifestyle, which can interfere with their subsequent health. Menopause marks not only the end of the woman’s reproductive life, but also the upcoming associated risks for many morbidities, as well. The increasing prevalence of diabetes (either type 1 Diabetes Mellitus (T1DM) or type 2 Diabetes Mellitus (T2DM) renders a necessity to investigate its effects on women’s a...

ea0070aep846 | Reproductive and Developmental Endocrinology | ECE2020

Gonadal dysfunction is associated with severity of disease in men with myotonic dystrophy type 1

hoth guechot Hélène , Humbert Linda , Kohler Florence , Leroy Clara , Robin Geoffroy , Vantyghem Marie-Christine

Background: The myotonic dystrophy type 1 (DM1) or Steinert disease is the most common inherited, autosomal dominant neuromuscular disorder in adult. The gonadal dysfunction has been known for many years in DM1 men with description of bilateral testicular atrophy but the factors influencing the different profiles of gonadal dysfunction, and their natural evolution are not clearly established. The purpose of this study was to determine the profiles of gonadal function on men af...

ea0070aep847 | Reproductive and Developmental Endocrinology | ECE2020

Psychological status and quality of life in men with hypogonadism and type 2 diabetes mellitus, receiving testosterone replacement therapy

Khripun Irina , Vorobyev Sergey , Kuzmenko Natalia , Petrovskaya Ekaterina

It is known that the presence of type 2 diabetes mellitus (T2DM) deteriorates the psychological status of patients, but its combination with a deficiency of testosterone (T) in men is not well studied. The aim of this work was to study the effect of T replacement therapy (TRT) on the levels of anxiety, depression, symptoms of androgen deficiency, diabetes and quality of life in men with T2DM and functional hypogonadism.Materials and methods: We examined ...

ea0070aep848 | Reproductive and Developmental Endocrinology | ECE2020

Serum inhibin B level distinguishes congenital hypogonadotropic hypogonadism from constitutional delay of growth and puberty in males: A systematic review and meta-analysis

Yuting Gao , Du Qin , Liu Liyi , Liao Zhihong

Objective: The distinction between constitutional delay of growth and puberty (CDGP) and congenital hypogonadotropic hypogonadism (CHH) in males with delayed puberty is difficult but important for timely treatment. We aimed to summarize the sensitivity and specificity of serum inhibin B (INHB) level in distinguishing CHH with CDGPin boys.Methods: Studies in the PubMed, EMBASE and Cochrane Library databases were systematically searched from the date of da...

ea0070aep849 | Reproductive and Developmental Endocrinology | ECE2020

Aminoacidic residues discriminating human choriogonadotropin (hCG) and luteinizing hormone (LH) binding to the human receptor (LHCGR)

Lazzaretti Clara , Secco Valentina , Paradiso Elia , Sperduti Samantha , Rutz Claudia , Kreuchwig Annika , Krause Gerd , Simoni Manuela , Casarini Livio

The human luteinizing hormone (LH)/choriogonadotropin (hCG) receptor (LHCGR) discriminates its two hormone ligands. LHCGR differs to the murine receptor (Lhr) in aminoacid residues potentially involved in qualitative discerning of LH and hCG, the latter absent in rodents. We aim to identify LHCGR residues involved in hCG/LH discrimination, indicating evolutionary determinants of human LH/hCG endocrine system. After comparing the LHCGR and Lhr sequences, we developed eight ...

ea0070aep850 | Reproductive and Developmental Endocrinology | ECE2020

An investigation into the age and developmental stage related association between plasma concentrations of leptin and growth hormone, linear growth velocity, body mass index and body surface area in boys between the ages of 1 and 20 years

Ahmed Naseem Afzaal , Qayyum Mazhar , Akram Maleeha , Tahir Fahim , Afshan Kiran , Jahan Sarwat , Shakeel Raza Rizvi Syed

Puberty, one segment of a larger developmental continuum in humans, is characterized by major transformations in body such as highest growth, sexual development and distribution of fat in different body regions. Leptin is regarded as an essential adipokine that regulates intake of food, expenditure of energy and body fat mass. It is well known that alterations in nutritional states markedly influence growth hormone (GH) secretion, which in turn regulates linear growth, muscle ...

ea0070aep851 | Reproductive and Developmental Endocrinology | ECE2020

Modern approaches to ovulation induction in patients with poor ovarian response

Kondratiuk Kateryna , Nikitina Iryna , Kondratiuk Valentyna , Dziuba Galyna

Background: Aromatase inhibitors have been introduced as a new treatment modality in controlled ovarian stimulation as they were found to elevate follicular sensitivity to gonadotropins.The purpose of this study was to evaluate whether IVF outcomes will differ between poor responder patients who receive high doses of gonadotropins alone or low doses of gonadotropins with letrozole during ovulation stimulation.Methods: Patients who ...

ea0070aep852 | Reproductive and Developmental Endocrinology | ECE2020

Headache in patients with polycystic ovary syndrome

Zabuliene Lina , Saukaityte Butvile Edita , Hendrixon Vaiva , Urbonas Mykolas , Jatuzis Dalius

Introduction: Polycystic ovary syndrome (PCOS) is the most frequent endocrine disorder among reproductive age women having negative impact on their health, personal and social live. In scientific literature data on headache in PCOS women are scarce.Aim of the study: To investigate the frequency of headache and its association with metabolic parameters and diet habits in women with PCOS.Materials and methods: 114 PCOS women and 80 h...

ea0070aep853 | Reproductive and Developmental Endocrinology | ECE2020

A case of swyer syndrome

ElHaddad Hemmat , El Meligy Amr , Amin Samar , Salam Randa

Introduction: Swyer syndrome is caused by abnormal sex differentiation during the embryonic period, resulting in incomplete intrauterine masculinization and undifferentiated gonads associated with a 46, XY karyotype in phenotypic females. They have normal female external genitalia and underdeveloped female internal genitalia. Such patients usually present with primary amenorrhea and delayed puberty but can also have gonadal tumors as adults. The exact incidence is unknown. The...

ea0070aep854 | Reproductive and Developmental Endocrinology | ECE2020

Age and developmental stage dependent relationship between thyroid hormones and follicle stimulating hormone, luteinizing hormone, testosterone and inhibin B in boys between the ages of 1 and 20 years

Shakeel Raza Rizvi Syed , Ahmed Naseem Afzaal , Akram Maleeha , Tahir Fahim , Afshan Kiran , Jahan Sarwat , Qayyum Mazhar

The maturation of hypothalamo-pituitary-gonadal (HPG) axis causes the onset of puberty, which stimulates the development of secondary sex characteristics and changes in the size and composition of the body. Furthermore, the size of the thyroid gland increases and its function also changes as an adaptation to the requirements of the transformation of child to an adult. It has also been reported that the thyroid hormones including thyroxin (T4) and triiodothyronine (T3) have a f...

ea0070aep855 | Reproductive and Developmental Endocrinology | ECE2020

Intensive marathon running: Don’t over do it!

Lunia Apurva , Kumar Sathis

Background: Secondary hypogonadism due to intensive exercise and eating disorders are well documented in females. But there very few reports of secondary hypogonadism due to intensive exercise in male patients.Case presentation: A 34 year old Caucasian male, presented to our clinic with impaired fertility, lack of libido and increased fatigue. On further enquiry, he mentioned that he had starting running 3–4 yrs. ago, and had been running mara...

ea0070aep856 | Reproductive and Developmental Endocrinology | ECE2020

Effects of perinatal exposure to 4-tert-octylphenol (OP) on brain development and behavior in mice

Nam Tran Dinh , Myeong Go Seon , Yi Donglin , Thi Bich Thuy Vo , Jung EuiMan , Jeung Eui-Bae

Perinatal action of estrogens or aromatizable steroids at the central nervous system level is responsible for brain development. 4-tert-octylphenol (OP) is knows as an endocrine disrupting chemical (EDC) that is widespread estrogenic chemical used in the costumer produces. Thus, we hypothesis that through early contact with the central nervous system, OP could alter the processes affecting behavior. In this study, primary cortical neurons were exposure to OP (10–6</...