Endocrine Abstracts

IntroductionMenopausal transition has been associated with an increase in cardiovascular risk, which is possibly linked with the hormonal imbalance following ovarian senescence. Both insulin levels and circulating androgens (FAI) have been associated with endothelial dysfunction, through studies evaluating flow mediated dilation (FMD). We aimed to investigate whether the link between these hormones and FMD might be explained by markers of oxidative stres...

BackgroundToday thyroid diseases occupy the first place among all endocrine pathologies and remain one of the most difficult problems. The prevalence of subclinical hypothyroidism, according to various data, is 4–15%. The category of women of reproductive age deserves special attention, as thyroid dysfunction affects a woman’s fertility and pregnancy. Vitamin D deficiency in the population remains a global problem. The purpose of the study is t...

IntroductionKallikreins are a subgroup of serine proteases which in women are produced by Skene’s glands. It evaluated the variation of concentrations in KLK3 and immunoglobulins IgA, IgM, IgG and IgE in the menstrual cycle (follicular (FP), ovulatory (OP) and luteal (LF) in young women living in two areas with different environmental impact.Materials and methods82 women aged between 22 and 34, normo-men...

IntroductionTurner syndrome (TS) is usually accompanied by hyperhonadotroic hypogonadism and primary amenorrhea due to gonadal disgenesis. One-third of girls with TS have spontaneous thelarhe (ST). Regular menstrual cycles occur in at most 6% of this patients.ObjectivesTo analyze the characteristics of pubertal development in children with different karyotype variants of TS.Methods<...

PurposeRadioactive iodine (RAI) is frequently used as adjuvant therapy in patients with differentiated thyroid cancer (DTC). However, its effect on ovarian reserve has not been fully elucidated, with studies yielding inconsistent results. The aim of this study was to systematically review and meta-analyze the best available evidence regarding the effect of RAI on ovarian reserve in premenopausal women with DTC.Methods<p class="...

AimThe aim of this study was to evaluate: a) the prevalence of a previously unknown endocrine / metabolic dysfunction, namely hypogonadism, thyroid dysfunction, hyperprolactinemia, and diabetes or prediabetes, in a population of patients affected by Erectile Dysfunction (ED); b) the differences in ED severity according to the presence/absence of specific endocrine / metabolic dysfunctions.Material and Methods...

IntroductionWe present the very rare case of a patient with ovotesticular disturbance of sexual development (DSD) by 46 XX/46 XY genetic chimerism.Case reportA 47-year-old patient with male appearance consulted for gynecomastia developed in the last 3 - 4 years. Clinical examination showed genital organs ambiguity with a small scrotum, no palpable testis, a clitoris instead of penis. Painful bilateral gyn...

BackgroundAromatase deficiency is an extremely rare autosomal recessive condition due to mutations on CYP19A1 gene. Despite the size and complexity of this gene, only about 40 cases with aromatase deficiency have been reported.Case reportThe patient was born at term from non-consanguineous parents. Maternal signs of virilization were verified during third trimester (deep voice, acne on arms and face ...

IntroductionTurner syndrome(TS) is characterized by complete/partial monosomy or by a structural defect in one of X chromosomes. Despite clinical hallmarks of short stature(SS) and gonadal dysgenesis(GD), phenotype is variable and related to underlying chromosomal pattern. Loss of the distal segment of the short arm of x-chromosome(Xp-), including haploinsufficiency of short stature homeobox-containing (SHOX) gene, is thought to be the main factor for gr...

Introduction Growth hormone (GH ) deficiency is a rare but not exceptional cause of statural delay in children. The results of GH stimulation tests and the exploration of other pituitary axes allow us to conclude on the nature of the deficiency: total or partial and its possible association with other pituitary deficits.MethodsThis is a retrospective descriptive study including 75 patients followed for congen...

BackgroundOnly limited data are available regarding adverse effects of gender affirming hormonal treatment (HT) mainly due to the lack of population-based studies with adequate controls, thus making spontaneous reporting systems a valuable tool to detect potential side reactions.ObjectiveIn this nationwide retrospective study, we aimed to analyse adverse drug reactions (ADRs) in relation to gender affirming H...

ObjectivesPolycystic ovary syndrome (PCOS) is the most common reproductive disorder that onsets peripubertally and increases morbidity by affecting quality of life. Insulin like peptide 5 (INSL5) is a relaxine/insulin family member gut-peptide hormone that is expressed by various tissues including the hypothalamus, pituitary and ovary. In the present study, we aimed to characterize serum INSL5 levels in PCOS women and determine association of circulating...

IntroductionSevere hyperandrogenism is a warning sign in young women. Differential diagnosis includes neoplastic, non-neoplastic and iatrogenic causes. The association of hyperandrogenism and congenital or acquired portosystemic shunt (PSS) has been rarely described, with its pathophysiology being unclear.Case 1A 22 year-old woman with diagnosis of autoimmune hepatitis, portal hypertension and PSS since 15 ye...

ObjectiveThis was a systematic review with meta-analysis aiming to identify if patients with Klinefelter syndrome (KS) had a reduced full scale intelligent quotient (IQ) when compared to controls. Reduced IQ is shown to have a negative multifaceted effect on individuals’ Quality of Life (QoL), having been shown as a predictor of future success, increased criminal behaviour, post-traumatic stress disorder (PTSD), lower academic achievements and i...

IntroductionPrimary ovarian failure currently represents an increasingly frequent cause for consultation in endocrinology, from 4 to 18 % of the causes of primary amenorrhea and 10 to 28 % of the causes of secondary amenorrhea.ObjectivesIn this context, we report a retrospective study of 50 patients followed between 2000 and 2020 for early menopause, in order to assess the etiologies and risk factors favourin...

Background/AimsGender affirming hormone therapy (GAHT) has been reported to have positive psychosocial effects on transgender people. In present study, we aimed to investigate longitudinally the short-term and long-term impacts on social adaptation, body image, features of alexithymia and aggression changes in transgender men after GAHT administration.MethodsThe single center, longitudinally follow-up study i...

ObjectivesThe European Network for Investigation of Gender Incongruence (ENIGI) is a multicenter prospective cohort study. All participants receive a standardized gender affirming treatment (GAHT) protocol including regular follow-up. The current study compared changes in androgens upon starting GAHT and during follow-up in transgender women (TW) with or without gonadectomy by investigating serum total testosterone (TT), calculated free testosterone (cFT...

IntroductionNoonan syndrome can result from different mutations, the most frequent being in PTPN11. The diagnosis is often made by the clinical picture of short stature, facial dysmorphisms and heart defects. From an endocrine point of view, growth retardation, hypogonadism and a higher frequency of thyroid autoimmunity are highlighted.ObjectivesTo analyse endocrine features in patients with Noonan syndrome (...

Developmental toxicity tests have been made by embryonic stem cell tests at the European Centre for the Validation of Alternative Methods or by embryonic body test in our laboratory. However, no neuronal-specific developmental toxicity test has been made yet. Therefore, this study was carried out using a 46C cell line, mouse embryonic stem cells with an endogenous Sox1-GFP reporter, to exploit the developmental neurotoxicity test. The expression of Sox1, a marker for neural pr...

IntroductionGrowth retardation is a multifactorial process involving genetic, nutritional and hormonal factors. It has a significant psychological impact. The etiologies are multiple. This case illustrates a growth retardation related to more than one etiology.Case presentationA 22 year-old patient consulted in orthopedics for a right lameness. Diagnosis of primary hip osteochondritis had been suspected on st...

IntroductionTurner syndrome is a chromosomal abnormality linked to the total or partial absence of the X chromosome. Its prevalence is 1/2500 female newborns. It constantly associates a stature delay and ovarian failure, with an increased risk of various malformations. The objectives of this study are to show the importance of the cytogenetic study in the management of patients with delayed height and / or primary amenorrhea, and to search for a possible...

Classical forms of 21 hydroxylase defisciency are generally observed during bith life and present as loss of salt or rapid puberty in young boy. We report a rare case of classical 21 hydroxylase defisciency presented as low gonadotrophines contrasted with normal level of testosterone. This was related to a 39 years old patient consulted for male infertility. Clinical exam was normal, including a normal level of blood tension. Liquid chromatography–tandem mass spectrometry...

ContextContamination of collected blood samples by application of testosterone gel near the venipuncture site can cause spuriously elevated serum testosterone concentrations. Often this will be detected only in case of extreme discrepancies between lab result and clinical effects. Because in vitro testosterone cannot be metabolized as the testosterone in vivo we hypothesized that measuring estradiol, as a metabolite of testosterone after aromati...

Back ground49, XXXXY syndrome is a rare defect of sex chromosomes frequently considered as a variant of Klinefelter syndrome. It is often associated with more severe dysmorphic features, hypogonadism, mental retardation, musculoskeletal abnormality, and rarely with diabetes mellitus due to insulin resistance.The goal: To describe clinical, biochemical, hormonal, radiological and developmental status of the patient with 49, XXXXY ka...

The combined physiological effects of somatotropic and gonadal axes have been demonstrated to cause acceleration in linear growth at puberty. In synergy, growth hormone (GH) and gonadal steroids (testosterone [T] and estradiol [E2]) stimulate longitudinal bone growth through direct stimulation of chondrocytes and osteoblasts. Amongst others, the secretion of GH is stimulated by ghrelin through its receptor called GH secretagogue receptor 1a (GHSR1a). Ghrelin is a peptide secre...

One of the most common environmental endocrine disruptor is bisphenol A (BPA), which mimics estrogen effects. Even at low expositional dose, BPA is capable of transferring across the human placenta in active unconjugated form. The purpose of this work was to investigate the long-term effects of low dose BPA introduction to rats during the critical period of sexual differentiation of the brain on the reproductive system and the behavior of F1 offspring. Wistar dams were exposed...

IntroductionPolycystic ovary syndrome (PCOS) is a common disorder that is not fully understood. Multiple hormonal and metabolic factors impact on disease pathophysiology resulting in various phenotypic characteristics among the PCOS population. Luteinizing hormone beta subunit (LHβ) (protein ID P01229) is mapped on (chr19p13.3) and consists of three exons. It is specific beta (β) subunit giving to LH from the anterior pituitary its specific fun...

IntroductionPrimary ovarian insufficiency (POI) occurs in 1% of women between puberty and 40 years old. Despite being idiopathic in 74–90% of the cases, there are other etiologies, such as genetic causes (in up to 16% of cases). Triple-X syndrome (TXS) is a common (estimated incidence of 1/1000 women) but frequently undiagnosed chromosomal abnormality. Most women are phenotypically normal, despite this fact, POI can still develop. We present a case ...

IntroductionPartial gonadal dysgenesis (PGD) is one of the rare 46, XY disorders of sex development (DSD), associated with variable degrees of impaired testicular development and function. Phenotypic appearance is related to the level of functional testicular hormones. Usually PGD is diagnosed in infancy because of significant genital anomaly at birth, however, spontaneous puberty is seen in up to 57% of all 46, XY PGD cases. Bilateral gonadectomy is per...

IntroductionWomen with PCOS frequently exhibit impaired insulin sensitivity. Low-grade chronic inflammation has been associated with insulin resistance and type 2 diabetes. DPP4, also known as CD26 (T-cell activation antigen CD26) is a prolin-specific serin-exopeptidase. With its binding partner ADA (Adenosine Deaminase complexing Protein) it cleaves numerous chemokines, mitogens, neuropeptides and peptide hormones and thereby influences metabolism, immu...

IntroductionPrevious studies in women with idiopathic infertility have shown that obesity does not independently contribute to the decrease in the success of assisted reproductive technology (ART) techniques. However, few studies evaluated the success rate of ART between obese and non-obese women in infertility associated with PCOS.ObjectiveTo compare the number of oocytes, mature oocytes, number of embryos a...

IntroductionTurner Syndrome is a relatively rare genetic disorder related to the total or partial absence of an X chromosome. Its clinical presentation is very heterogeneous. It can be associated with several organic abnormalities, including hearing disorders. The objective of our work is to study the prevalence of otologic abnormalities in our Turner patients.Material and methodThis is a retrospective descri...

IntroductionPremature ovarian insufficiency (POI) is defined by menstrual disturbance (oligomenorrhea or amenorrhea) before 40 years and confirmed by two FSH levels in the menopausal range, obtained at least a month apart. Some POI cases are syndromic such as Turner’s syndrome or Blepharophimosis–Ptosis–Epicanthus inversus Syndrome type 1 (BPES). BPES type 1 (MIM: 110100) is a rare autosomal dominant syndrome caused by mutations in FOX...

46, XY complete gonadal dysgenesis, also known as Swyer Syndrome, is characterized by the presence of normal female external genitalia at birth, late puberty and primary amenorrhea. Spontaneous menses (due to hormone-secreting tumor) and breasts development occur in rare cases. With proper hormonal substitution, patients could carry pregnancies achieved through IVF with donor oocytes.Case presentationFemale patient, aged 22, addres...

IntroductionHyperthyroidism during pregnancy can be caused by an hydatiform mole in its partial or total form. The biochemical particularities between hcg (human corionic gonadotropin) and Tsh (thyreo-stimulating hormone) in gestational trophoblastic disease can explain the thyrostimulating effect in it. We report a case of hyperthyroidism on molar pregnancy through an observation.ObservationPatient of 27 yea...

A diagnosis of primary amenorrhea (PA) is always a clinical challenge. By definition, PA is a failure to reach menarche by age 14 with the absence of secondary sexual characteristics or absence of menses by age 16 years regardless of the development of secondary sexual characteristics. It may result from a number of different conditions and requires comprehensive evaluation to identify a cause, along with a regular patient follow-up. The aim of this case report is to emphasize...

IntroductionInfertility associated with hypergonadotropism is usually an unpromising condition related to acheiving fertilization. We describe the patient presented as oligoasthenoteratozoospermia (OAT syndrome), with laboratory primary hypergonadotropic hypogonadism but normal male fenotype, including typical male hair dustribution.Case descriptionmale, born 41 year ago, presented when he was 29 year old, as...

AimRe-Analysing (starting 2007) the effect of injectable testosterone undecanoat depot (TUD) in hypogonadic patients.Material-methodA. Patients: at onset 333 men with hypogonadism (median: 62 y).B. Distribution: by decade (starting with 20y->90y); no = 6, 18, 35, 80, 104, 67, 21, 2.C. TUD (Neb...

AimWe appreciate the effect of testosterone undecanoat 1000 mg intramuscular injection (NebidoR; Bayer) on both prostatic volume (see Peretianu, this congress) and PSA (this study) in hypogonadic patients after up to 13 years.Material and methodA. PSA (ng/ml) was done in Bucharest accredited laboratories, appreciated at 1 year. B. Prostatic volume (PV): ultrasound,...

IntroductionPremature ovarian insufficiency (POI) is characterized by the loss of ovarian activity before the age of 40. It is associated with hypoestrogenism, raised gonadotrophins and oligomenorrhea or amenorrhea. POI is a heterogeneous disease that can result from different etiologies, including genetic, autoimmune, and iatrogenic. Of the genetic causes, single-gene mutations and chromosomal imbalances involving X chromosome or autosomes have been ass...

Background and aimEarly control of gestational diabetes mellitus (GDM) can reduce the likelihood of adverse maternal and fetal outcomes. Glycemic variability (GV) is a more accurate parameter for assessing the risk of developing diabetic complications than traditional parameters of assessing compensation. In most cases, diet therapy is used to treat GDM, meanwhile the glycemia in pregnant women with GDM should correspond to the glucose level in healthy p...

IntroductionVitamin D (VitD) is thought to be essential for adequate testosterone (T) secretion in men. In the absence of D-hypovitaminosis, their blood T levels and T to estradiol (E2) ratio values are higher relative to those with VitD deficiency. The correlation between VitD levels and androgenization indices in men of different ages has not been practically studied.The aimTo study blood levels of T and th...

IntroductionDuring pregnancy, women with Graves’ disease are at risk of maternal and fetal hyperthyroidism caused by stimulating TSH receptor antibody. Here we report the unusual case of a woman with recurrent Graves’ disease who developed central hypothyroidism transiently during pregnancy.Case report and resultsA 26-year-old woman was treated by antithyroid drug for a third episode of hyperthyroid...

IntroductionThe polycystic ovary syndrome (PCOS) affects about 6–10% of women of reproductive age and is associated with oligomenorrhoea and anovulation. Recently, a possible impairment of bone accrual in women with PCOS due to the chronic inflammation disposition has been postulated [Kalyan, 2017]. The lack of progesterone due to anovulation may also have effects on bone metabolism [Seifert-Klauss, 2015]. A progestin test is a classic tool for asse...

IntroductionThe problem of ecologically caused iodine deficiency is acute in many countries around the world, including Ukraine, where the endemic zone for the development of iodine deficiency is Northern Bukovina. The possible participation of iodine in the induction or manifestation of autoimmune processes in the thyroid gland and their role in reproduction is discussed. Iodine deficiency is significantly higher in infertile women than in women with no...

IntroductionTurner syndrome (TS) is one of the most common types of aneuploidy; its etiology is associated with total or partial X-chromosome monosomy. In 5–12% of patients, mosaicism for a cell line with Y chromosome is identified. The presence of Y-chromosome increases the risk of gonadal tumors, especially gonadoblastoma and subsequent dysgerminoma. Here we report on the case of a girl with a rare 45X0/46XY mosaic TS exhibiting a primary amenorrh...

Sexual differentiation is a sequential process where several genes are involved, therefore a defect at any stage can lead to a divergence between genetic, gonadal and phenotypic sex. The objective of our work is to analyze the clinical and hormonal characteristics of 13 XY patients, explored between 1989 and 2007 and belonging to 10 different families. The average age of our patients was 18.9 years (2–33 years). The reason for consultation was sexual ambiguity in two case...

IntroductionThe prevalence of Non-Alcoholic Fatty Liver Disease (NAFLD) varies according to age, gender and nationality. In the general population, the incidence is about 15–25%. Liver disease increases with age and its prevalence is higher in menopausal women suggesting that steroid sex hormone metabolism may play a role in the pathogenesis of NAFLD.AimThe purpose of this systematic review was to invest...

Mitochondria, which are essential organelles for endocrine health, plays an important role in various physiological functions including hormonal biosynthesis, cell metabolism, proliferation and differentiation. Thus, mitochondrial toxicity can affect a variety of organs, such as liver, heart, muscle, kidney, and central nervous system. Mitochondrial toxicity is recognized as a contributor to drug-induced toxicity of various drugs such as hydroxytamoxifen, valproic acid, acetam...

BackgroundIn the pediatric population, the Leydig cell testicular tumor (TCL) is rare. It manifests communally in childhood with isosexual precocity gonadotropin-independent due to excess testosterone production.Case reportWe admitted a case of an 8.5 years old boy with the complaint of sexual precocity dating back to 4 years, which manifested by acne, hyper seborrhea, stature advance, penile enlargement, pub...

The determination of steroid hormones and subsequent interpretation of results is accompanied by a range of difficulties. The amount of information that current technology can provide on the circulating concentrations of more than a hundred various steroid compounds can lead to problems with interpretation. The aim of this study is to help provide orientation in this maze of data on steroid hormones. First, we focus on specific aspects arising from the pre-analytical phase of ...

ObjectiveHealth care for transsexuals has changed in Andalucia since 2014. Our unit of attention to transsexual people began in 2015. The objective of this study is to analyze our experience.Patients and methodsRetrospective study by reviewing the medical records of the transsexuals treated in our unit.Results145 transsexual people. Transsexual man to woman (TMW):...

IntroductionMayer-Rokitansky-Küster-Hauser (MRKH) type 2 or MURCS (Müllerian duct aplasia, unilateral renal agenesis and cervicothoracic somite anomalies) syndrome is a congenital disease with an incidence of 1 in 4000–5000 female live births, with unknown etiology. Several chromosomal abnormalities were associated with the disease, with a normal 46XX karyotype and familial members to share the same associated anomalies as sporadic cases h...

IntroductionPerrault syndrome is a rare recessive autosomal degenerative disease defined by the combination of ovarian dysgenesis 46XX with sensorineural deafness. Other manifestations can expand the clinical picture, particularly a cerebellar degeneration and/or peripheral neuronal sensitivo-motor.ObservationWe have reported a 14 years old patient case, from a 2nd degree consanguineous marriage with percepti...

BackgroundNatural disasters resulting in psychosocial stress and endocrine imbalances are implicated for impacting sexual health. We postulate COVID-19 for its longer duration and global lockdown has implications on the sexual healthMethodsWe analysed contemporary protocols of six ongoing trials through WHO International Clinical Trials Registry Platform and www.clinicaltrials.gov trials registry database. Th...