Endocrine Abstracts

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...

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...

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...

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...

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...

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...

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 ...

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...

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...

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...

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...

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...

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...

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...

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...

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...

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...

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...

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...

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...

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...

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...

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...

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....

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...

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...

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...

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...

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...

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...

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...

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...

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...

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...

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...

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...

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...

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...

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...

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...

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...

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...

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...

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...

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...

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...

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...

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...

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...

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...

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...

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 ...

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...

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...

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 ...

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...

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...

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.<...

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="...

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...

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...

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 (...

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...

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...

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...

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...

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...

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...

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...

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 ...

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...

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 ...

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 ...

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 ...

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...

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...

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...

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...

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</...