Endocrine Abstracts

Background: Patients with CHH and KS have eunuchoid body proportions of the skeleton compared to normal male subjects, characterized by tall stature, and reduced upper-to-lower segment ratio (U/l). Vice versa, steroids exposure deeply differs between CHH and KS at puberty, with both testosterone and estradiol being very low only in CHH. At present, body skeletal proportions comparison between CHH and KS is not available.Aim: To compare anthropom...

Background: Hypogonadism is estimated to account for over 10% of male-factor infertility. However, due to conflicting data regarding the relationship between testosterone levels and sperm quality, hormone evaluation is not consistently requested during initial assessment of the infertile male. Hypogonadism is associated with cardiovascular disease (CVD) and has been linked to an increased risk of mortality The aim of this study was to investigate the prevalence of hypogonadism...

Short stature is a clinical sign noted in genetic syndrome.Purpose: Molecular genetic characterization of children with short stature.Objects and methods: The study involved 7 patients 3-15 yrs (3 boys and 4 girls) with short stature. Full clinical and molecular genetic research (Whole Exome or Genome Sequencing) was conducted.Results: SDS height was from -2 to -4. All patients had multiple stigmas of dysembr...

Background: The relationship between energy balance and reproduction is U-shaped, meaning that both a negative and a positive energy balance have a detrimental effect on reproductive function. In a world increasingly burdened by the growing prevalence of obesity, we turned our attention to the negative extremity of weight, by exploring anorexia nervosa (AN) and constitutional thinness (CT) metabolic and reproductive features. Kisspeptin (kiss-1) is a relatively recently discov...

Background: Prolactin is associated with metabolic risk inside and outside of pregnancy. Maternal prolactin levels could be associated with offspring body composition.Aim: To investigate if maternal prolactin-levels were linked to offspring body composition at seven years of age.Design: Prospective observational cohort study (the Odense Child Cohort).Methods: Maternal fasting blood samples were assessed durin...

Introduction: Nijmegen breakage syndrome(NBS) represents a rare autosomal recesive disorder, characterized by severe chromosomal instability. It is caused by mutations in the NBN gene, which product, nibrin, belongs to the hMre11/hRad50 protein complex, critical for processing DNA double-strand breaks during mitotic and meiotic recombination. The hallmarks of NBS are growth retardation, microcephaly, premature ovarian failure(POI) in females, immunodeficiency and predispositio...

Hypogonadotropic hypogonadism as a part of hypopituitarism can be a cause of persistent amenorrhea and hypoestrogenemia in women of reproductive age as it is observed in postmenopause. We know that premature and early menopause leads to accelerated aging with such markers as decreased quality of life, phyco-emotional deprivation, dyslipidemia, bone mineral density and others. We hypothesized that untreated hypogonadism in young women with hypopituitarism could cause premature ...

Introduction: With a global prevalence of around 10%, polycystic ovary syndrome (PCOS) is a common endocrine condition affecting women. Despite its prevalence, limited evidence exists around the condition and its impact on patients. Qualitative research provides insights into symptoms and experiences faced by women with PCOS that can affect management and compliance.Aim: A systematic review was undertaken to evaluate the current literature on ...

A 38-year-old transsexual woman, with no known drug allergies, active tobacco smoker, ICAT 2. As diseases of interest, stage A2 human immunodeficiency virus (HIV) infection with current negative viral load. Lúes in 2012 treated. In treatment with Stribild (elvitegravir 150 mg/ cobicistat 150 mg/ emtricitabine 200 mg/ tenofovir disoproxil fumarate 245 mg). She went to the Transsexual Persons Care Unit due to gender inconsistency since childhood with the adoption of the fem...

Background: The classical steroidogenic route to the synthesis of dihydrotestosterone in Leydig cells involves delta-5 and delta-4 precursors. Besides, the “backdoor pathway”, encompassing progesterone metabolites, is gaining increasing interest in fetal development and men pathophysiology. Nowadays, liquid chromatography/tandem mass spectrometry (LC-MS/MS) is the ideal technique to simultaneously quantify large panels of steroids with elevated sensitivity and specif...

Background: Anti-Müllerian hormone (AMH) is well known for its association with ovarian follicular count and ovarian reserve in general as well as for its recruitment of primordial follicles in women. With an explicit decrease in menopause, it is mainly used for clinical questions from in-vitro-fertilisation to polycystic ovary syndrome. Interestingly, AMH levels in men are quite high during lifetime, but there is only few data about its relevance and potential effects in...

Male infertility arises as a global public health in the context of the dramatic decrease in birth rates, within a complex picture of hormonal, genetic and epigenetic factors. However, the underlying causes of male infertility remain unknown in many cases. Our study included samples (n = 82, median: 34 years, range 20–55 years) obtained from men investigating couple infertility and from a normal control group (n = 11, median: 29 years, range 21–55 y...

Introduction: Obstructive sleep apnea syndrome (OSAS) is characterized by chronic inflammation. Hepcidin is an acute-phase protein involved in iron metabolism. Increase in hepcidin has been shown in OSAS. Testosterone probably exerts inhibitory effect on hepcidin levels and even trump iron and inflammation-mediated mechanism in chronic inflammatory state. On the other hand iron balance may influence gonadal axis. The aim of this study was to assess whether hypogonadism in OSAS...

Context: Several previous studeis suggested seasonal variation in testosterone levels. However, these studies were limited by either their small sample size or by variability in baseline characteristics and confounders such as: differences in age and weight distribution, co-existent illness, time in the day in which testosterone was measured and by differences in geographic location and climate conditions. Ultraviolet (UV) exposure is one of the main environmental stimuli. In ...

Background: The recognition of the erectile dysfunction (ED) pathogenesis is essential to identify the appropriate ED management. Since vascular ED (vED) could be a manifestation of a systemic arterial damage, the watershed in the ED diagnostic framework is the discrimination between psychological (pED) and vED. However, reliable tools to directly diagnose pED are currently lacking.Aim of the study: To identify which parameters could predict pED. Moreove...

Objective: The objective of the study was to assess the effect of intra-muscular testosterone on body composition in men with hypogonadism and poorly controlled type 2 diabetes.Research design and methods: This is a randomised double-blinded placebo-controlled add-on trial of intramuscular testosterone undecanoate administered every 12 weeks in 65 hypogonadal men with poorly-controlled diabetes. Phase 1 patients were randomly assigned to either treatment...

Introduction: Male idiopathic infertility represents a therapeutic challenge for physicians, since a targeted aetiological treatment does not exist. Several hormonal and non-hormonal therapies have been proposed so far to increase pregnancy rates. Among hormonal therapies, exogenous follicle-stimulating hormone (FSH) administration shows the most convincing physiological rationale in the face of a clinical efficacy below expectations. Indeed, from evidences available in the li...

Background: Testicular overstimulation is the pursued therapeutic goal when exogenous follicle-stimulating hormone (FSH) is empirically administered to men with idiopathic infertility. Although a robust physiological rationale theoretically supports the FSH use in male idiopathic infertility, useful markers to evaluate its efficacy are still far from being detected. While pregnancy rate remains the strong outcome in couple infertility management, the identification of reliable...

Introduction: The effects of testosterone on coagulation have not yet been clarified. In particular, it is still controversial whether male hypogonadism, or testosterone replacement therapy (TRT), may slightly increase the risk of venous thromboembolism, in particular during the first months of therapy. This study aimed to assess the hemostatic balance in hypogonadal men before and after short-term TRT, compared to healthy controls.Methods: Thrombin gene...

During development, gonadotropin releasing hormone (GnRH) neurons are born in the nasal placode and migrate to the hypothalamus, where they position to regulate sexual reproduction by the pulsatile release of GnRH. Defective GnRH neuron development or action may lead to GnRH deficiency (GD) which is characterized by absent or delayed puberty (1). GD can also be present as a trait shared by several complex neurodevelopmental disorders (NDDs), such as cerebellar ataxia, developm...

Introduction: Polycystic ovary syndrome (PCOS) is the leading cause of female infertility and is associated with high degree of comorbidities including type 2 diabetes and endometrial cancer. Hyperandrogenemia is a hallmark of PCOS and contributes to endometrial-related dysfunctions, including implantation failure and miscarriage. Whether cellular heterogeneity contributes to the functioning of the endometrium is not previously studied. Therefore, the aim is to reveal cell-typ...

Background: Polycystic ovary syndrome is a long lasting, complex, hormonal condition associated with microvascular endothelial dysfunction and strongly related to CIMT changes at an early age. ED represents an initial reversible step in atherogenesis development, so early clinical identification of ED may play a pivotal in the prevention or reversal of progression to atherosclerosis. Also, CIMT is considered as an early marker of atherosclerosisObjective...

Background: Gender affirming hormonal treatment (GAHT) is for many a cornerstone of transgender care. National data regarding use of hormonal treatment by transgender persons are limited.Aim: To assess use of GAHT in transgender persons.Design: National register-based cohort study in Danish transgender persons followed from 2000 until 2018. The main outcome measure was redemption of GAHT. Persons with an ICD-10 diagnosis code of &#...

Introduction: Anaemia and other haematological disorders have been reported in Turner Syndrome (TS). TS-related comorbidities (premature ovarian insufficiency, autoimmune hypothyroidism, coeliac disease and liver diseases) and treatments (hormone replacement [HRT] and growth hormone) are possible explanations. We aim to investigate the prevalence of abnormal full blood count (FBC) in adult TS and assess associated clinical characteristics.Methods: FBC pa...

Introduction: Kallmann syndrome (KS) is a rare congenital form of hypogonadotropic hypogonadism (HH) associated with anosmia, that occurs with an incidence of 1:48,000 (1:30,000 males). Multiple separate pituitary adenomas are also rare, identified in only 0.7 % of pituitary adenoma cases.Case Presentation: A male Caucasian patient presented with absent puberty, small testicles (1 ml), microphalus, osteopenia and anosmia at age 15. Endocrine assessment c...

Introduction: Premenopausal women that suffer from osteoporosis are under-diagnosed and many anti-osteoporotic medications are neither licensed for young women, nor have they been established as safe or effective. Current guidelines on osteoporosis only address postmenopausal women, resulting in uncertainty and insufficient treatment for premenopausal women. To prevent bone fragility in young women, more knowledge and education about possible risk factors for osteoporosis in y...

Introduction: Benzo[a]Pyrene (BaP) is an endocrine-disrupting chemical, which may impact reproduction. It is a polycyclic aromatic hydrocarbon generated by the incomplete combustion of organic compounds. BaP may be accumulated in the environment, achieving effective concentrations in the nanomolar range and exerting genotoxic effects in long-term exposed humans.Aim: We evaluated the short-term impact of BaP on luteinizing-hormone (LH)/choriogonadotropin ...

Background: Idiopathic Hypogonadotropic Hypogonadism (IHH) is a condition caused by deficiency or insensitivity to gonadotropin-releasing hormone where the pathology behind the mechanism is unknown and no secondary causes of hypogonadotropic hypogonadism are present. The condition not only effect sexual characteristic but can affect the physical and psychosocial development of a patient therefore making its prompt diagnoses and treatment necessary. The purpose of this study wa...

Background: Excess testosterone in PCOS is accompanied by increased levels of other ovarian and adrenal androgens and precursors. Recently, 11-oxygenated adrenal androgens have been postulated as major components of the circulating androgen pool in PCOS. Obesity is strictly connected with androgen excess and with the derangement of hormone circadian rhythmicity. To date, it has not been clarified whether hyperandrogenism in PCOS, either complicated by obesity or not, is accomp...

Introduction: Effects of prior exposure to testosterone (T) during puberty on the performance of transgender women (TW) in estrogen therapy undergoing physical effort are not known, mainly about cardiopulmonary capacity (CPC). Objectives: To evaluate CPC and muscle strength in TW undergoing long-term gender-affirming hormone therapy (GAHT). Methods: A cross-sectional study was carried out with 15 TW (34.2±5.2 yo), 13 cisgender men (CM) and 14 cisgender women (CW). TW were i...

Introduction: The Dandy-Walker complex (DW) comprises a rare intracranial malformation of the posterior fossa and multiple organ anomalies. The association with endocrine pathology is rare - described in isolated cases (Kallman syndrome, primary hypothyroidism (PH) and central precocious puberty). Noonan syndrome (NS) is a genetic disease usually diagnosed at birth, with variable phenotype. Most cases have AD transmission, with the PTPN11 gene mutation responsible for 50%....

Background: Higher anti-Müllerian hormone (AMH) values are associated with polycystic ovary syndrome (PCOS) and AMH is proposed as a marker of PCOS, however, the optimal diagnostic threshold is not yet defined.Aim: To study the significant correlations of AMH in PCOS and the accuracy and threshold of AMH for the PCOS diagnosis in Romania.Subjects and methods: Serum AMH, TT, LH, FSH, fasting glucose and insulin (Ins), HOMA-IR a...

Background: Women with polycystic ovary syndrome (PCOS) have lower health related quality of life (HRQL) and more symptoms of anxiety and depression than women without PCOS, where a higher BMI is positively correlated to both lower HRQL and more symptoms of anxiety and depression. Studies on women with PCOS and severe obesity regarding symptoms of anxiety and depression are lacking.Aims: To examine if women with severe obesity and PCOS have lower HRQL an...

Introduction: The role of metformin in PCOS is very well known and several studies reported effects of thiazolidinediones and SGLT2 inhibitors on metabolic parametars in these patients.Objective: The aim of this study was to compare the effects of metformin, pioglitazone and empagliflozin treatment on metabolic control, hormonal imbalance, weight loss and ovulations in obese patients with PCOS and prediabetes.Methods: BMI, waist ci...

Introduction: Perrault syndrome (PS) is a rare disease characterized by the association of a premature ovarian failure (with primary or secondary amenorrhea) and a sensorineural deafness. In this context we report the case of three patients presenting the association of these two anomalies.Cases: We report the cases of three females, including two sisters from a consanguineous marriage, aged 21, 16 and 23 years, respectively. The two cardinal signs of th...

P450 Oxidoreductase (POR) deficiency is a rare autosomal recessive disorder of steroidogenesis with varied clinical presentation. POR is the electron donor for all microsomal enzymes involved in steroidogenesis namely P450c 17(17 hydroxylase/17,20 lyase), P450c 21 (21 –hydroxylase), and P450 aro(aromatase). POR deficiency can cause genital ambiguity in both sexes, impaired steroidogenesis and skeletal malformations. Here we present a patient with ovarian cysts and delayed...

Introduction: Polycystic ovary syndrome is the most common cause of anovulatory infertility in women. Anti-Mullerian Hormone (AMH) was considered a reliable marker for the diagnosis of polycystic ovary syndrome (PCOS). However, AMH level is influenced by age and body mass index. The aim of this study was to analyze the performance of the (LH x AMH)/FSH ratio in the diagnosis of PCOS in women with morbid obesity.Methods: This was a cross-sectional study i...

Introduction: There is a significant overlap of symptoms between polycystic ovary syndrome (PCOS) and thyroid disease, despite the fact that they are two different diseases. Both diseases individually affect a woman’s metabolic parameters and fertility, and their association makes them much more difficult to manage.Objective: To investigate the effect of elevated thyroid stimulating hormone (TSH) concentrations on metabolic and endocrine parameters ...

Introduction: Polycystic ovary syndrome (PCOS) is the most prevalent endocrinopathy among women during reproductive age. PCOS cardinal manifestations include hyperandrogenism, oligo/anovulation, and/or polycystic ovarian morphology, and is closely linked to metabolic disorders such as obesity and insulin resistance (IR). It was observed that single-point insulin sensitivity estimator (SPISE) index is associated with metabolic abnormalities and could predict glucose regulation ...

Introduction: Klinefelter syndrome is the most prevalent male chromosomal disorder, characterized by the presence of additional X chromosomes. Most males with Klinefelter syndrome have 47, XXY and normal intelligence. Intellectual disability occurs in males with Klinefelter syndrome variants, who have a higher number of X chromosomes. Here we report a rare case of a 49, XXXXY syndrome revealed by intellectual deficit and pubertal delay.Observation: An 18...

Introduction: The term female pattern hair loss (FPHL) is commonly used synonymously with female androgenetic alopecia. While the the role of androgens and androgen receptor genes is well-defined in male androgenetic alopecia (AGA-M), its role in in the pathogenesis of FPHL is stil uncertain. More diffuse involvement, resulting in an oval-shaped alopecia surrounded by a rim of normal hair density (Luduig’s classification) might be a clinical challenge. The aim of case rep...

The aim of this work was to study the condition of the reproductive system after long-term administration of letrozole followed by its withdrawal in young males and against the background of involutive changes in aging males in a comparative aspect. The experiments were carried out on Wistar rats with an initial age of 5 months and 15 months, which have been gavaged by letrozole every other day at a dose of 1 mg/kg body weight for 3 months and then 2 months after its discontin...

Introduction: Mitochondrial uncoupling proteins (UCPs) are channel proteins present in the mitochondrial inner membrane which are responsible for the transport of protons between the mitochondrial intermembrane space and the matrix. Currently, six UCP homologues had been identified (UCP1-6). UCPs are major regulators of reactive oxygen species (ROS) production, general cellular redox state and metabolism. UCPs also exhibit specific functions, such as UCP1 and thermogenesis or ...

Introduction: Mitochondrial uncoupling proteins (UCPs) are mitochondrial transmembrane channels belonging to the anion carrier family. Six UCP homologues (UCP1-6) had been identified with a ubiquitous distribution throughout the body and many different physiological functions. UCPs are important regulators of several biological processes, including thermogenesis, oxidative phosphorylation, ROS production, as well as cellular metabolism. However, the knowledge concerning the mo...

Infertility is a global health problem that affects about 15% of couples and approximately half of infertility cases are associated with male factors. Oxidative Stress (OS) is reported as one of the major causes of male infertility, mainly due to spermatozoa’s vulnerability to the attack of reactive oxygen species (ROS). Infertile couples often recur to assisted reproductive technology (ART) to achieve a successful pregnancy. However, ART protocols also increase the expos...

Background: Erectile dysfunction (ED) represents the most frequent sexual dysfunction. Among several possible ED aetiologies, vascular ED (vED) presents the greatest implications for global individual health, resulting an early hallmark of cardiovascular diseases. Indeed, vED was demonstrated associated with a 1.25 times greater risk of developing major cardiovascular diseases. Alongside cardiovascular aspect, the evaluation of patients health, measured by the comorbidities nu...

Background and Objectives: Polycystic ovary syndrome (PCOS) is a common female reproductive endocrine disorder with a prevalence of 15-20%. Although a majority of patients diagnosed with PCOS are overweight/obese, minority can present with normal body mass index of ≤25 kg/M2 which complicate the effective diagnosis and management. We have studied the socio-demographic and clinical characteristics of lean PCOS patients in comparison to obese PCOS patients atten...

Introduction: National Institute of Health and Care Excellence (NICE) recommends screening for emotional wellbeing as part of consultations for polycystic ovary syndrome (PCOS).Aim: We evaluated several dimensions of emotional wellbeing in people attending PCOS consultation with specialists in the UK and India.Methods: All people attending specialist clinics in a tertiary centre in the UK from October 2020 to September 2021 and in ...

Introduction: Perrault syndrome is a rare autosomal recessive disorder defined by the association of 46XX ovarian dysgenesis and neurosensory deafness. Other manifestations may be present, in particular cerebellar and/or peripheral neuronal degenerative disease. we report the case of Perrault syndrome in a 15-year-old Tunisian girl.Observation: A 15-year-old girl was referred to our department for pubertal delay. She had a congenital deafness and epileps...

Introduction: Gynecomastia is an enlargement of male breast glandular tissue caused by an imbalance of the hormones androgens and estrogens. It can be physiological at different stages of life (birth, adolescence, senescence), caused by medication or reveal a serious pathology. The aim of our study was to evaluate the characteristics of presentation, biochemical profile, and etiology of gynecomastia.Methods: A retrospective study was conducted at the end...

Introduction: Gynecomastia is defined as the benign proliferation of the mammary glands in males, which results from an excess of estrogens, androgen deficiency, hormone resistance, or altered ratio of estrogens to androgens. It can be unilateral or bilateral. The aim of our study was to describe the therapeutic aspects and the evolution of gynecomastia.Methods: This is a retrospective descriptive study of 100 patients who presented with gynecomastia at ...

Introduction: Polycystic ovary syndrome (PCOS) is one of the most common endocrine disorders in women and its main symptoms are related to menstrual disorders and hyperandrogenism. The aim of our study was to evaluate the clinical and paraclinical profile of PCOS.Methods: We conducted a retrospective study that included 50 women, followed at endocrinology department’s consultations of Rabta Hospital in Tunis. Each patient underwent a clinical examin...

Introduction: The diagnostic criteria of polycystic ovary syndrome (PCOS) are still under discussion and the hormonal parameters, including anti-Mullerian hormone range and hyperandrogenism, are not determined. Serum AMH level has been proposed as a surrogate marker for PCOM and could, therefore, be integrated in the diagnostic classifications for PCOS\. The aim of the present study was to characterize hormonal features of PCOS and to establish the most important hormonal para...

A 36-year-old woman in follow-up due to early ovarian failure of idiopathic origin. No family history of interest. History of menarche at 12 years of age with regular menses until 18 years of age, when it begins with amenorrheic spells lasting up to 8 months. Laboratory tests revealed hypergonadotropic hypogonadism with negative ovarian autoantibodies, normal karyotype, and gynecological ultrasound showing a normal-looking uterus with slight bilateral ovarian atrophy. Negative...

Introduction: The average age for physiological menopause is 50 years. Menopause before the age of 40 is usually defined as premature ovarian failure (POF). POF in adolescents is an extremely rare event and its occurrence raises important questions about the cause-and-effect relationship, which may signal genetic and systemic disorders.Design Case report: The 29-year-old first reported to an endocrinologist for secondary amenorrhea. The anamnesis reveale...

Context: The genes implicated in premature ovarian failure play a role in crucial biologic processes such as DNA repair, meiosis, germ cell recruitment, steroidogenesis and mitochondrial function. Mitochondrial disorders are varied in their onset, inheritance pattern, and clinical presentation, but they often cause dysfunction in organs with high energy demands. Frequent features include hypertrophic cardiomyopathy, heart conduction defects, myopathy, sensorineural deafness, c...

Vitamin D binding protein (VDBP) has a critical role in orchestrating optimal vitamin D homeostasis and bioavailability. VDBP has been implicated in modulating the gene expression of amino-transporters within the placenta and might thus control the transfer of amino acids to neonates during in utero development. We hypothesize that dyshomeostasis of VDBP could lead to adverse metabolic profiles and low birth weight in neonates. VDBP genetic polymorphisms steer the uni...

Background and Objectives: Polycystic ovary syndrome (PCOS) is a common endocrine disorder with heterogeneous eatiology. It is characterized by irregular menses and or oligo/anovulation, hyper-androgenism, and polycystic ovaries. The prevalence and diagnosis of PCOS changes depending on which clinical criteria are utilized to confirm the diagnosis. The prevalence can be high as 15%–20% when the Rotterdam criteria are used. However, there is significant inter-individual va...

Introduction: Existing educational resources for polycystic ovary syndrome (PCOS) have limited inclusion of patient perspectives. We invited women with PCOS to share their lived experiences to understand their perception and opinion on the current standard of care.Methodology: Women with PCOS aged 18-60 years were invited to complete an online survey in April and May 2021. The survey had open questions focused on their lived experiences with PCOS. Partic...

Introduction: The hyperandrogenic in utero environment in pregnant women with polycystic ovary syndrome (PCOS) can affect embryo development and impair offspring health at adult age. Moreover, long term hyperandrogenic exposure also leads to unfavored changes to the mothers’ reproductive physiology, leading to miscarriage, preterm delivery, and perinatal mortality. The underlying mechanism(s) of pregnancy complications associated with PCOS and the consequence of ...

Introduction: It is known from world experience that the common screening method for diagnosing prostate cancer is the level and density of prostate-specific antigen (PSA), but the high sensitivity and low specificity of PSA testing have not been evaluated in Uzbek clinical practice. There are no proper guidelines to investigate suspected prostate cancer in Uzbekistan.Methods: A total of 101 men were included in our investigation who were examined in the...

Introduction: The normal development of the female reproductive tract depends on the interaction between genetic, hormonal and environmental factors for the differentiation of the Müller Wolff ducts, and the urogenital sinusCase report: 16-year-old female, single, school student presented to our endocrine department complaining of delayed puberty. The patient was delivered by normal vaginal delivery, no history of anosmia or hearing defects There is...

Scrotal color-doppler ultrasonography (sCDUS) and transrectal ultrasonography (trCDUS) provide crucial information about the clinical status of testes and male accessory glands. However, the US evaluation of the infertile male is still often considered as a second level diagnostic tool. To analyze the role of ultrasound in male infertility, in order to predict hypothalamic-pituitary-testicular axis function, 1120 records from infertile men were retrospectively evaluated (from ...

Background: Follicle stimulating hormone (FSH), a dimeric glycoprotein hormone, stimulates Sertoli cell proliferation and spermatogenesis in males. Azoospermia is defined as the absence of sperm in the ejaculate. The majority of patients with non-obstructive azoospermia have high FSH levels. Isolated FSH deficiency has been reported in a few patients.Case Presentation: A 22-yr-old, 172-cm-tall male presented with azoospermia. He was born at full term wit...

Butylparaben is an endocrine disrupting chemical (EDC) which is used as antimicrobial preservative in many cosmetic products. EDCs are structurally diverse class of synthetic and natural compounds. EDCs can cause non-communicable diseases such as obesity, type 2 diabetes, and neurodevelopmental disease. Present study investigated that whether exposure to butylparaben during maternal pregnancy could cause the offspring’s neuronal development disorder. In vitro stu...

Introduction: Swyer syndrome is a rare sex development disorder characterized by pure 46 XY gonadal dysgenesis. It is associated with aberrations in testicular determination and differentiation leading to a female morphotype with presence of external and internal female genitalia, undifferentiated fibrous gonads, a male karyotype and hypergonadotropic hypogonadism. We present the case of a 46 XY adolescent female with complete gonadal dysgenesis diagnosed following her hospita...

Background and aim: Gestational Diabetes Mellitus (GDM) is often diagnosed at 24-28 weeks of pregnancy when the fetal phenotype is already altered. We aimed to develop a machine learning model based on clinical variables, lifestyle features and genetic markers for GDM prediction in the first trimester of pregnancy based on the 2013 World Health Organization (WHO) criteria.Methods: Using multivariable logistic regression analysis, different models to pred...

Introduction: Partial androgen insensitivity syndrome is a disorder of sexual development, distinct from complete androgen insensitivity syndrome. It is characterized by the presence of abnormal genital development in an individual with a 46, XY karyotype, with normally developed testes and a partial response to androgens at normal levels for age. It is an autosomal recessive X-linked disorder related to molecular abnormalities of the androgen receptor gene.<p class="abste...

Introduction: Androgen insensitivities are rare genetic diseases, characterized by a more or less complete defect of tissue sensitivity to testosterone. It ranges from a more or less complete lack of masculinization to isolated infertility in a 46, XY individual. This partial or complete androgen insensitivity is linked to a defect in the function of the androgen receptor. We report the case of two patients with complete androgen resistance syndrome discovered during the explo...

Introduction: The prevalence of Transgender individuals seeking gender affirming hormone therapy (GAHT) has been increasing. It is important to closely monitor this therapy in order to minimize the risk of adverse effects.Aim: To evaluate the safety and monitoring of the GAHT in the Portuguese adult transgender populationMethods: Cross-sectional study conducted in March 2021. Data collected through an online questionnaire ...

Keywords: Reproductive system of women who have had coronavirus, Covid-19, women. The relevance of the problem. Currently, there are no published evidence-based recommendations for the management of women who have undergone COVID-19. According to statistics, women carry COVID-19 more easily than men, and the likely consequences of this coronavirus infection for reproductive health cannot be ignored. It is necessary not only to carefully monitor the respiratory parameters of pa...

Introduction: Hirsutism is often caused by hormonal disorders such as high levels of circulating androgens, hormonal changes related to menopause or disorders of the ovarian or adrenal gland. The aim of our study was to evaluate the clinical and etiological profile of hirsutism.Methods: A retrospective study was conducted at the endocrinology department of Rabta Hospital in Tunis including 100 patients who presented with hirsutism between January 2009 an...

Introduction: Hirsutism is described as excessive development of facial and body hair in women in androgen-dependent areas. Our aim was to determine the clinical and metabolic aspects of hirsutism and its relationship with the metabolic syndrome.Methods: We conducted a retrospective descriptive study at the endocrinology department of Rabta Hospital in Tunis. We recruited 100 women who presented with hirsutism between January 2009 and December 2020 Clini...

Idiopathic hypogonadotropic hypogonadism (IHH) is a rare congenital disease caused by deficiency or action of gonadotropin-releasing hormone. While generally considered a long-life condition, IHH can be reversible in about 20-30% of cases, but mechanisms of reversibility are unknown. We report the case of a male with IHH who began treatment with low dose (20 mg/day) transdermal testosterone to induce pubertal development at age 18. Following the start of treatment, he experien...

Introduction: Polycystic ovary syndrome (PCOS) is an endocrine and metabolic disorder that affects 5-10% of women of reproductive age world wide. Women with PCOS are known to have a higher prevalence of metabolic syndrome and cardiovascular risk factors compared to the general population. However data on PCOS and cardiovascular risk factors amomg Sri Lankan women is limited.Methodology: A case control study was conducted among 172 women from Colombo, Sri...

Background: Polycystic ovary syndrome (PCOS) is a common disorder, yet not fully understood. Multiple hormonal and metabolic factors influence the pathophysiology of disease; resulting in various phenotypic characteristics among PCOS population. The luteinizing hormone/choriogonadotropin receptor (LHCGR, OMIM: 152790) is a G protein- coupled receptor mapped on chromosome 2p16.3; its coding region comprises 10 exons separated by 10 introns which transcript to protein w...

Background: Learning through various online platforms is very common nowadays and its popularity has increased especially during the pandemic period. Nowadays, medical professionals are turning more than ever to online education through available online books, websites, and various online platforms. The aim of this study was to show that virtual training can improve the knowledge and confidence of young endocrinologists.Methods: The Croatian Section for ...

Introduction: The androgen receptor (AR) as a steroid hormone receptor is crucial for the embryological male sex differentiation and the maintenance of the phenotypical male characteristics throughout life in addition to spermatogenesis. Mutations in the AR gene can disrupt its function leading to Androgen Insensitivity Syndrome (AIS). AIS has a recessive mode of inheritance and can be broadly classified into 3 phenotypical categories: complete androgen insensitivity syndrome ...

Congenital hypogonadotropic hypogonadism is characterized by delayed or absent puberty and infertility due to abnormally low levels of gonadotropic hormones and sex steroids. The most common reason for its development is Kallmann syndrome - a rare congenital disorder resulting from impaired migration of GnRH-secreting neurons from the olfactory epithelium to the hypothalamus. It is associated with hyposmia and anosmia. In 1942 Klinefelter described 9 men with gynecomastia, spa...

Introduction: Disorders of sex development represent a rare group of congenital disorders causing discord between the phenotypical and genotypical sex. We present the case of two female patients in whom we discovered a sex development disorder when they consulted for amenorrhea.Case report: Two sisters of 21 and 25 years old had an endocrinological consult for primary amenorrhea. They were conceived from a consanguineous marriage and had no particular me...

Introduction: A few studies have examined the effect of Hormone replacement therapy (HRT) on serum Prolactin level (PRL) in postmenopausal women. It has been demonstrated that HRT can trigger a stimulatory response on PRL secretion. However, the significance of this is yet to be further evaluated given the great variation in PRL concentration during menopause which has not been fully meticulously examined.Case reports: We present 3 cases of postmenopausa...

Introduction: McCune-Albright syndrome (MAS) is a rare, Mosaic genetic (Lethal in the homozygous state) but non-hereditary disorder. The diagnosis is most often made in childhood, the management is multidisciplinary and includes several aspects. We report a case of Mc Cune Albright syndrome and the various difficulties encountered in its management.Case report: A, H 22 years old, at the age of 6 months presented skin macules. At the age of 3 years he dev...

Context: Recurrent Pregnancy Loss (RPL), defined as two or more consecutive pregnancy losses, is a serious reproductive problem, affecting 1–5 per cent of reproductive-age women. Although a high percentage (7.46%) of RPL cases are reported from India, scanty reports are available on the molecular mechanisms associated with RPL susceptibility in the population of the north-eastern state of Assam. Hormonal imbalances are a major cause of recurrent pregnancy loss. Recent stu...

Introduction: Hirsutism is defined as excessive hair growth in androgen-dependent areas in women, related to an increased exposure androgen action in pilosebaceous follicles. It may be isolated, or associated to cutaneous manifestations from acne to signs of virilism. The aim of our study was to describe the therapeutic and evolutionary aspects of hirsutism.Methods: It was a retrospective study at the endocrinology department of Rabta Hospital in Tunis i...

Objectives: To determine the histopathological changes of the endometrium that occur during the period of perimenopause and postmenopause and to determine their association with the presence of obesity, diabetes, thyroid disorders and the levels of FSH, LH, estradiol, insulin and parathormone.Material and methods: This study involved 120 patients with fractionated explorative curettage due to abnormal uterine bleeding. The control group consisted of 40 h...

Introduction: Androgen insensitivities are rare genetic diseases, characterized by a more or less complete defect of tissue sensitivity to testosterone. It ranges from a more or less complete lack of masculinization to isolated infertility in a 46, XY individual. Many surgical methods of vaginoplasty have been opted with the aim of reconstructing the anatomy to allow future sexual activity as well as an improvement in the quality of life. We report the case of two patients wit...

Introduction: The biological rhythm pattern is synchronized through circadian oscillation of cortisol and melatonin release. Increased cortisol levels and circadian rhythm disruption act as an oncogenic factor in endometrial cancer through among others- dysregulation of cell proliferation/apoptosis and invasion.Aim: To investigate, whether there is an oscillatory expression of the clock genes, MT1 and GR expression in human endometrial carcinoma cells. T...

We present the case history of a 48-year-old man with anxiety and depression, who was referred for evaluation of absent libido, long standing erectile dysfunction and reduced body hair. There was no history of orchitis, pituitary problems or low impact fractures. He was always single and did not father children. Clinical examination revealed obesity (BMI 31 kg/m2), absent facial hair, reduced body, axillary and pubic hair. There was bilateral gynaecomastia. The phallus was nor...

The purpose of the study: Is to study the frequency of thyroid diseases in adolescents (boys and girls) in 2 regions of the Republic of Uzbekistan.Material and methods.: We have been examined and surveyed in the framework of screening just for the period from January 1, 2021 to April 1, 2021 - 1023 boys and girls in the two regions of RUZ - 523 adolescents were examined in the Djizakh region and 500 adolescents in the Namangan region Aged from 11 to 15 y...

Introduction: Disorders of sex development include a large number of congenital conditions related to unusual chromosomal sex (gonosomal abnormalities), defective testicular development, or abnormal hormone secretion or receptivity, resulting in unusual external and/or internal genitalia development rare. Patients and methods we report 3 cases of disorders of sex development 46XY reveled at adult age. clinical, biological and radiological funding are reported in the following ...

Introduction: Precocious puberty (PP) is a rare pathology involving approximatively 0.2% of girls and less than 0.05% of boys and is defined as the appearance of secondary sex characteristics before 8 years of age in girls and before 9 years of age in boys. We report an unusual case of a patient who presents a precocious puberty associated to a primary adrenal insufficiency.Case presentation: We describe a case of a 7-year and 4 months old girl referred ...

Introduction: Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) is a rare malformation of the birth canal in women. It is defined as agenesis of the uterus and vagina with normal development of secondary sexual characteristics and a normal karyotype (46, XX). This is an entity with a heavy psychological impact requiring multidisciplinary care.Observation 1: We report the case of a 16-year-old patient with a history of delayed puberty in the sister, who...

Introduction: Polycystic ovary syndrome is a real public health problem and is the most frequent cause of hyperandrogenism in women of childbearing age. The therapeutic management of PCOS depends on the patient’s phenotype and associated comorbidities. The aim of our work is to study diagnosis and evolution after treatment of PCOS in our population.Material and method: This is a retrospective descriptive study of 78 patients followed for PCOS at the...