Endocrine Abstracts

Background and Purpose: Infertility affects 15% of couples globally, and only few treatment options are available. Gonadotropins are classic and potent regulators of ovarian and female reproductive function, but novel endocrine crosstalk appears to exist between gonads and the skeleton that may influence female fertility. One of the new players include the RANKL signalling system, which consists of the receptor activator of nuclear factor κβ ligand (RANKL), the recep...

Introduction: Chronic stress caused by prolonged emotional pressure may cause to multiple physiological problems including reproductive dysfunction. There is no doubt that infertility can cause chronic stress. However, the effect of chronic stress-induced reproductive dysfunction is still debatable. Thus, this study aims to demonstrate CUS effect on reproductive system.Methodology: Sprague Dawley (SD) rats (n=16) were divided into two groups: i)...

Introduction: Diabetic ketoacidosis (DKA) is a serious metabolic complication of diabetes with an annual incidence between 4.6 and 8 episodes per 1000 diabetic patients, it is responsible for a considerable socio-economic impact, however its mortality remains low.Objectives: The objective of the study is to clarify the epidemiological and clinico-biological profile of type 1 diabetic patients hospitalized and followed for diabetic ketoacidosis.<p cla...

Background: Iodine deficiency disorders are a global health problem partially eliminated by salt iodization national programmes. In Poland, this micronutrient shortage diminished over the last two decades, however in some particularly vulnerable groups like pregnant and breastfeeding women additional supplementation of iodine is beneficial for both mother and newborn. The programme’s effectiveness should be regularly evaluated. The matter of concern remains the optimal re...

Introduction: Congenital adrenal hyperplasia (CAH) is a genetic condition which impairs enzymatic steroidogenesis of the adrenal cortex, leading to excessive androgen production. CAH phenotype is heterogeneous. In the mildest forms, it can present with hirsutism, acne and menstrual irregularities. Problems related to gender identification arise in about 5% of people with CAH with a 46,XX karyotype.Objective: We present the case of a young female-to-male ...

Background: Preeclampsia (PE) is a complex condition of pregnancy, associated with substantial perinatal morbidity and mortality, affecting 2% to 8% of pregnancies worldwide. Its hallmarks are high blood pressure (hypertension) and endothelial dysfunction, leading to potential end-organ injury. Affected organ systems include liver, blood, kidneys, brain and placenta. In the present study, we investigated steroid hormones such as progestagens, estrogens, androgens, and glucocor...

Introduction: Several investigations proved the presence of receptors for androgens, estrogens and progesterone in vocal folds. The most common endocrine disorder causing alterations in the aforementioned hormones concentrations is polycystic ovary syndrome (PCOS), which, according to several studies, can cause voice changes, especially deepening of its timbre. Over last few years, vocal changes accompanying many different disorders have been a subject of research with the use...

Introduction: The etiology of gender dysphoria is still unclear. Although prior studies have shown trans men have higher androgen levels than cisgender women, they all concluded unselected populations. Our purpose to perform this study is to evaluate transmen’s hormone profile and metabolic status to compare cisgender women in a more selected population. This is the first case-controlled study to compare anthropometric, metabolic, and endocrinological parameters of drug-n...

Introduction: In gender affirming therapy of the transgender male, increasing doses of testosterone are administered and as the androgen dose increases, various biochemical parameters such as haematocrit, creatinine and PSA increase. It is not known whether any parameters have advantages in monitoring this androgenisation. Our study evaluates the correlation between the increase in androstanediol glucuronide, testosterone, free testosterone and free androgen index (FAI) with t...

Turner syndrome (TS) is a rare condition with a high frequency of aortic dilatation (AD) and a risk of aortic dissection. Our objective was to evaluate the characteristics of the aorta in patients with TS.Methods: Analyses of aortic walls were obtained during prophylactic aortic replacement. Histological description and measurement of a standardized media degenerative score (MDC) were performed. Cytogenetic analysis quantified the level of monosomy X in ...

Background: Numerous studies have suggested that optimal vitamin D status increases treatment success of women undergoing assisted reproductive treatments. However, conflicting data exist, and the relationship remains controversial, prompting the need for more comprehensive studies investigating all the metabolites of vitamin D in women undergoing IVF/ICSI treatment. Objective: To investigate the relationship between follicular fluid levels of the three ...

Introduction: Polycystic ovary syndrome (PCOS) is one of the most common causes of anovulatory infertility. Polymorphisms in genes related to follicular recruitment and development, such as the follicle-stimulating hormone receptor (FSHR) and the oestrogen receptor 1 (ESR1) genes, and their impact on biochemical phenotype and response to controlled ovarian stimulation in women with PCOS have been studied in different populations, with inconsistent results.<p class="abstext...

Background: The standard approach for Gender-Affirming Hormone Therapy (GAHT) of transgender women (TW) in Israel is oral estradiol (OE) combined with the potent anti-androgen cyproterone acetate (CA). Recently, many of our non-binary patients have requested sublingual estradiol (SLE) without CA, under the unproven belief it preserves erectile function, and does not induce depression. Preliminary data in a few subjects, who self-practiced this approach, suggested it also maint...

Introduction: Endocrine late effects can manifest in hemopoietic stem cell transplantation survivors who were exposed to myelosuppressive conditioning treatment. These include dysfunction of the hypothalamic/pituitary, thyroid, and gonads leading to premature ovarian insufficiency and primary amenorrhoea. In addition, metabolic dysregulation and increased risk of diabetes have been observed in these patients. The investigation for primary amenorrhoea in this condition can rare...

Background and Objective: Information on the long-term effects of anabolic androgenic steroids (AAS) use on the myocellular properties of human skeletal muscle is scarce, despite being the primary target of AAS. Animal studies suggest persistence of upregulated myonuclei numbers following AAS discontinuation. Few human studies have investigated the effects of AAS on human skeletal muscle cell morphology and exclusively focused on current AAS users. No data exist elucidating th...

Introduction: Hypoglycemia is the most frequent iatrogenic acute complication in type 1 diabetics, it is a potentially serious complication, which can lead to coma. Many advances in new generation insulins, self-monitoring methods and therapeutic education have reduced the incidence of this complication. Nevertheless, hypoglycemia still generates great fear and anxiety in parents of young type 1 diabetic patients, which can be accompanied by several therapeutic errors.<p c...

In assisted reproduction, poor ovarian response to controlled ovarian stimulation (COS) leads to poor oocyte yield and depends on the genetic background. We compared the expression of key-genes, coding proteins regulating follicular development, between small (<10 mm) and large ovarian follicles (>16 mm), assuming the size as a hallmark of follicle maturation and oocyte fate. Twenty-two patients undergoing COS were enrolled in a fertility clinics. Granulosa cells and folli...

Visfatin is one of adipokines that particularly regulates metabolic homeostasis. Literature data of the last decade indicate also that visfatin participates in the regulation of ovarian follicles’ steroid synthesis and oocyte maturation in women, mice, hens, and cows. However, there is still a gap in knowledge about the effect of this adipokine on the corpus luteum (CL) functions. Our previous study documented visfatin mRNA and protein expression in the porcine CL. Theref...

Relevance: PCOS is a multifactorial heterogeneous disease associated with endocrine, reproductive, and metabolic manifestations. The relevance of the PCOS problem is determined by its high prevalence worldwide among women of childbearing age (5 - 20%). It is worth noting that the main reproductive signs of PCOS appear in late prepubertal and pubertal periods. The aim is to carry out a comparative analysis of hormonal indicators in PCOSMaterials and Metho...

Introduction: The incidence rate of 45X / 46XY karyotype and variants has been reported as 1 / 15,000 live births and is rare. The phenotypic spectrum of patients with 45X / 46XY varies widely from women with Turner syndrome to normal androgenized men. In adult male infertility studies, 45X / 46XY karyotype cases diagnosed as a result of genetic screening have been reported. However, there are case reports showing that, despite their normal appearance, these patients may have ...

Introduction: Mitochondrial uncoupling proteins (UCPs) are transmembrane channels present in the inner mitochondrial membrane whose function is the transport of protons and small substrates between the intermembrane space and the mitochondrial matrix. UCPs are key regulators of cellular metabolism, including mitochondrial function, oxidative phosphorylation, and reactive oxygen species (ROS) production. UCPs’ dysfunction has been associated with the onset of metabolic dis...

Objective: Transgender individuals endure gender dysphoria and incongruence between physical appearance and gender identity. We aimed to investigate effects of gender affirming treatments on sex hormone levels, mental well being and body image quality of life in these individuals. Material and Method: This is a descriptive cross sectional study. Transgender individuals who were transitioned from pediatric to adult care (n: 12) and who were formerly follo...

Introduction and objectives: Placental apoptosis plays important roles in both normal physiological and abnormal pathological placental development. Fetal growth is highly dependent on the placenta, thus any disruption in placental formation may lead to intrauterine growth restriction (IUGR). The rat placenta consists of a basal zone (BZ) and labyrinth zone (LZ). The BZ is the major site of placental hormone production and it goes under physiological apoptosis at the end of te...

Background: The likelihood of developing a fragility fracture rises with age. Osteoarthritis, osteoporosis, and hypovitaminosis D are all extremely common diseases, with 50% of women and 20% of men experiencing a fragility fracture at some point in their lives.Objectives: First, compare the occurrence of osteoporosis, fragility fractures, and risk factors such as low vitamin D levels, low bone mineral density, and the presence of other illnesses that pre...

Introduction: Masculinizing Gender-Affirming Hormone Therapy (GAHT) generally aims to induce testosterone levels equivalent to those of cisgender men and to reduce estradiol levels. There are no studies about bioavailable testosterone in this population.Aims: To determine the variation of the serum levels of sexual hormones in transmasculine people under GAHT and study the correlations between them and with BMI.Methods: Longitudina...

Introduction: Adolescence represents the passage from childhood to adulthood, this transition is characterized by physical and psychological transformations as well as many social challenges. The presence of chronic disease such as diabetes makes this a major challenge.Purpose: Describe the impact of diabetes on the school career of adolescents during the transition period.Methods: Descriptive study involving 79 young people aged 1...

Introduction: Turner syndrome (TS) is a feminine chromosomic disease, defined as the partial or total loss of the X chromosome. Classic phenotype includes growth and pubertal retardation as well as a characteristic dysmorphic syndrome. Other accompanying comorbidities are frequently associated with TS such as metabolic diseases: overweight, diabetes, hypertension (HTA) and dyslipidemia. Through this report we aim to determine the frequency of metabolic diseases associated with...

Introduction: Polycystic ovary syndrome (PCOS) is a common endocrinopathy affecting women of reproductive age. PCOS has two phenotypes, obese and lean, the latter being a much less common presentation of the syndrome.Aim: Compare PCOS outcomes in patients with obese PCOS and patients with lean PCOS.Methods: A retrospective, single-center, descriptive and comparative study including patients with PCOS followed at the endocrinology d...

Menopause defines the period in which women’s menstrual periods cease permanently, significant hormonal changes begin, and fertility is lost. In addition to the fact that menopause causes body weight gain, it has been found that body weight gain can negatively affect the menopausal process. In this study, the relationship between food consumption and body composition changes that may be caused by the menopause period and menopausal symptoms was investigated. In the study,...

Estetrol (E4) is a natural estrogen produced by the human fetal liver during pregnancy. E4 is the estrogenic component of a new combined oral contraceptive and is also in development for its use as menopausal hormone therapy. E4 displays a selective binding to human estrogen receptors (ER). In humans, after oral administration, E4 undergoes phase 2 metabolism leading to the formation of the two major metabolites E4-3-glucuronide and E4-16-glucuronide. The objectives of this st...

Purpose: To study the role of varying degrees of overweight in the course of menopause.Materials and methods of the study: The study involved 278 women in the menopausal period aged 40 to 46 years, of which the main group (MG) consisted of 218 women with overweight and obesity of varying degrees. The control group (CG) included 60 women with normal body weight and a waistResults of the study: As a result of the studies, we found th...

The therapy of hyperprolactinemia with dopamine agonists (DAs) is highly effective in the majority of cases (1). However, some patients fail to achieve normal prolactin levels and develop drug resistance towards prescribed medicine. This case study describes a medical history of The Georgian National Institute of Endocrinology patient, with a drug-resistant hyperprolactinemia and inability to conceive. The patient’s MRI scan result has not indicated incidence of pr...

Background: Obesity in women of reproductive age has a number of negative metabolic consequences, including dyslipidemia, type 2 diabetes, cardiovascular diseases, certain types of cancer. It is associated with increased ovulatory dysfunction, complications during pregnancy, endometriosis and endocrine abnormalities, including thyroid dysfunction.Aim: To study the prevalence of BMI and its correlation with thyroid disorders, female sex hormones and prese...

Introduction: Polycystic ovary syndrome (PCOS) is occurring in approximately one in seven women. Infertility is a major issue in PCOS. Recognizing patients with higher risk of infertility is still a matter of debate.Aim: Study the predictive factors of female infertility in patients with PCOSMethods: A retrospective, single-center, comparative and analytical study including patients with PCOS followed at the endocrinology departmen...

Introduction: Cryptorchidism is unilateral or bilateral absence of the testes from the scrotum. One of the differential diagnosis is congenital bilateral anorchia. Vanishing testes syndrome is associated with low serum AMH concentrations and an absent or subnormal response to stimulation with hCG. We report the case of a 22-year-old boy diagnosted with bilateral cryptorchidism and hypergonadotropic hypogonadism at the age of 17 years old. At the time of diagnosis the scrotum w...

Introduction: HAIR-AN syndrome is a rare condition, which can affect up to 5% of women with hirsutism. It is formed by the initials of the following clinical entities: HyperAndrogenism (hyperandrogenism), Insulino-Resistance (insulin resistance) and Acanthosis Nigricans. It is therefore a clinical triad that is considered as a severe subtype of PCOS, characterized by insulin resistance that appears early, constant and major. We present the case of a patient with Hair-an syndro...

Background: Selenium (Se) sufficiency is beneficial for thyroid metabolism and pregnancy course due to its antioxidant and anti-inflammatory properties. As a part of selenoenzymes, it ameliorates autoimmune thyroid disease (AITD) progression in mothers and provides proper neurogenesis in fetuses. Despite lacking or conflicting recommendations for its supplementation in pregnancy, Se is used in a clinical setting, as a common constituent of multivitamin pregnancy diet supplemen...

Androgens are sex steroid hormones fundamental for human reproduction. In males, they are produced upon luteinizing hormone (LH) action through its specific receptor (LHCGR) expressed in Leydig cells, supporting spermatogenesis. The human chorionic gonadotropin (hCG), acting on the same receptor but not expressed in men, is administered to improve testosterone synthesis in specific pathological contexts, such as hypogonadotropic hypogonadism and cryptorchidism. In vitro</e...

Introduction: The number of individuals seeking gender-affirming hormonal treatment (GAHT), as well as the ratio between transgender men and transgender women, has increased over the past two decades. The type of GAHT varies significantly among different countries due to differences in availability and reimbursement policies. We aimed to analyze the kinds of GAHT and demographic characteristics of transgender adults at our endocrine clinic, the only center caring for transgend...

Introduction: Turner syndrome (TS) is a genetic disease, attributable to the total or partial loss of an X chromosome. The classic phenotype encompasses short stature, hypergonadotropic hypogonadism and dysmorphic features. It’s also associated with other conditions such as autoimmune (AI) diseases. Aim: Herein we aim to determine the frequency of AI diseases in TS and to identify the genetic variants of TS mostly associated with this latter conditi...

The endocrine system is crucial in spermatogenesis and any hormonal alterations may affect fertility. Prolactin (Prl) plays a role in male reproduction, as evidenced by presence of prolactin receptors on various testicular cells. However, the exact mechanism and physiological role of testicular prolactin receptor during spermatogenesis remains elusive. Clinical conditions such as hyper- and hypo-prolactinemia are known to have deleterious effects on male reproduction. The aim ...

Polycystic Ovary Syndrome (PCOS) is the most common endocrinological dysfunction among women of reproductive age, often featuring hyperandrogenemia and anovulation. Reciprocal effects exist between elevated LH, androgens, anovulation and other features, increasing the hormonal disbalance, while the origins of PCOS are still not fully clear. The neuropeptides Phoenixin-20 (PNX20) and Nesfatin1 (NES1) are being co-expressed and thought to play opposing roles in the hypothalamic&...

Objective: The use of anabolic, androgenic steroids (AAS) to increase muscle mass and strength has become widespread among younger men engaged in recreational strength training. Although, repercussions exist for elite athletes with a ban of two to four years, the long-term effects on muscle mass following cessation are currently unknown. The present study aims to investigate previous users’ ability to retain lean mass and strength after long-term AAS cessation.<p clas...

Background: Language development during early childhood is considered an important marker of fetal neurodevelopment. Prenatal cortisol exposure plays a critical role in maturation of the fetal brain; however, the effect on offspring language development needs further investigation. This study aimed to evaluate the association between maternal 3rd trimester cortisol and early longitudinal offspring language development and to test whether there was sex differences in...

Objectives: Most transgender persons (0.3-0.5% of total population) are under gender-affirming hormone therapy (GAHT). Several studies have reported an increased morbimortality due to cardiovascular events (CVE), infectious disease and suicide. However, these studies were made on small populations and short follow up. We evaluated the changes on anthropometric variables, risk factors for cardiovascular diseases (CVD) and CVE at 5 and 10 years of follow up in a transgender popu...

Estradiol (E2) plays an essential role in woman fertility. E2, locally produced by granulosa cells (GCs) of ovarian antral follicles, controls follicular development and selection, and triggers the gonadotropin surge that leads to ovulation. Dysovulation arising from the arrest of antral follicle growth and maturation occurs in up to 10 % of reproductive-aged women suffering polycystic ovary syndrome (PCOS). Although the diagnostic criteria for PCOS are clearly established, th...

Aim: We aimed to examine the relationship between the healthy eating index (HEI) and steroidogenesis in polycystic ovary syndrome (PCOS) patients and healthy controls.Materials and Methods: In addition to demographic records and routine biochemical tests, HEI was calculated from three-day nutritional records in the Bebis program. Adrenal steroidogenesis panel was measured by LCMS.Results: The study included 50 women with PCOS and 4...

Background: Precocious puberty (PP) in girls is most frequently an idiopathic gonadotropin-releasing hormone (GnRH)-dependent PP, being thelarche the typical first sign. It is well established that increased dehydroepiandrosterone sulphate (DHEAS) levels are associated with premature adrenarche and may characterize PP too. However, its relationship with signs of hypothalamic-pituitary-gonadal (HPG) axis activation and oestrogen exposure is still to be elucidated.<p class="...

Introduction: Selective oestrogen receptor modulators (SERMs) and aromatase inhibitors (AIs) potentially increase endogenous gonadotrophin and testosterone secretion in men. They are used off-label in men with hypogonadism and/or infertility. There is a lack of guidance on using these agents in men with secondary hypogonadism, though these agents are widely used in these people as a cheaper alternative to gonadotrophins. Methods: Systematic search was co...

Background and Aim: Use of anabolic androgenic steroids (AAS) has moved from elite sports to the broader population. Studies suggest that AAS cessation is often associated with immediate various AAS withdrawal and hypogonadal symptoms. Quality of life using a standardized questionnaire has never been assessed in AAS users. The Short-Form 36 (SF-36) questionnaire is a highly validated and used instrument for assessment of quality of life. The questionnaire consists of a total e...

Introduction: Gender minorities, including transgender and gender diverse (TGD) individuals face health disparities and significant barriers in accessing healthcare. Lack of access to providers knowledgeable in TGD health needs is the single greatest barrier to care. Existing literature on TGD care has almost exclusively focused on physicians and there is scant literature on the role of nurses. We aimed to describe exemplars of nurse-led TGD care internationally to better unde...

Introduction: Polycystic ovary syndrome (PCOS) is characterized by hyperandrogenism, oligo-anovulation and/or polycystic ovary. Hypotheses such as genetic and environmental causes, disruption of the hypothalamo-pituitary-gonadal axis, insulin resistance, hyperinsulinemia and increased oxidative stress have been proposed to explain the etiopathogenesis of PCOS. In our study, we aimed to evaluate oxidative stress parameters and serum fetuin-A levels and to investigate their role...

Introduction: Polycystic ovarian syndrome (PCOS) is characterized by hyperandrogenism, chronic oligo-/anovulation and polycystic ovarian morphology. Hyperandrogenism is a key diagnostic feature of PCOS and according to ESHRE/ASRM criteria it can be clinical and/or biochemical. SPISE index (single-point insulin sensitivity estimator index) is a new indicator of insulin sensitivity and a predictor of abnormal glucose metabolism. The aim of the research was to analyse association...

Introduction: Simulation via Instant Messaging – Birmingham Advance (SIMBA) is an online real-time simulation-based learning model which has proven to improve participants’ confidence in managing simulated cases in various conditions. Transitional endocrinology is a unique set of conditions which not only needs clinical skills but also requires excellent team working and communication skills. The aim of the study was to assess the effectiveness of the SIMBA model in ...

Polycystic ovary syndrome (PCOS) is the most common reproductive problem in women of childbearing age attending an endocrine clinic with a reported prevalence of between 4-8 %. The classical symptoms result from excess ovarian androgen production and chronic anovulation. Ovarian ultrasound shows more than 10 follicles, 2-10mm in diameter. A common presentation in the clinic can be menstrual dysfunction but the most characteristic feature of the syndrome is the hirsutism which ...

Introduction: High androgen levels and infertility in reproductive women, beyond the most common cause of polycystic ovary syndrome (PCOS), is often a challenge diagnosis. Ovarian steroid cell tumor is considered a rare subtype of hormone-secreting ovarian tumor, accounting for about 0.1% of all ovarian tumors.Aim: To report a case of extremely high testosterone levels in a woman with secondary amenorrhea but without signs of virilization, and describe d...

Background and aim: Ovarian hyperandrogenism is a known cause of post-menopausal hirsutism and virilisation, more frequently of a benign nature (e.g. ovarian hyperthecosis, Leydig cell hyperplasia). Bilateral salpingo-oophorectomy delivers both definitive diagnostic and therapeutic results. However, after excluding the presence of a suspicious ovarian mass, the use of GnRH analogues (GnRH-a) offers a valuable therapeutic alternative with cases reporting a sustained response in...

Male infertility every year is becoming one of the main problems of the health system, which requires serious steps in coping this health and socioeconomic burden. Oxidative stress is emphasized as the main factor of idiopathic etiology resulting with the inability to conceive because of poor semen quality. Antioxidants have shown their beneficial effects in various studies conducted, resulting both in improving semen quality and higher chance of natural conception. Thus, the ...

Introduction: Visfatin belongs to adipokines, i.e. hormones produced mainly by adipose tissue; its expression and role have been described in many organs, where it regulates energy metabolism, insulin resistance and inflammatory reactions. Moreover, the level of visfatin changes during pregnancy and in obese women and those with obesity related pregnancy pathologies: preeclampsia (PE), gestational diabetes (GDM) or intrauterine growth restriction (IUGR) its level increases. Th...

Introduction: The hypothalamic-pituitary-gonadal (HPG) axis is regulated by pulsatile GnRH secretion and its action on the anterior pituitary, leading to the synthesis and secretion of LH and FSH. KNDy neurons, expressing kisspeptin, neurokinin B and dynorphin A, are the GnRH/lH pulse generator and are key regulators of puberty and fertility. The HPG axis is active during prenatal and early postnatal life in humans and rodents, but then remains quiescent until puberty in both ...

Introduction: Hyperprolactinemia is a relatively frequent finding. A wide range of conditions can be responsible of this biochemical abnormality. Herein we report a rather rare etiology of hyperprolactinemia which is Turner syndrome (TS).Methods: Aiming to determine the frequency of hyperprolactinemia in patients with TS, we enrolled a retrospective descriptive study in the department of Endocrinology at the Hedi Chaker Hospital. We included patients who...

Background: Turner syndrome (TS) is the most common chromosome deficiency in women, with an incidence of 1 in 2 000 female newborns. Acromegaly is a rare disease, which occurs with a frequency of 1:140 000–250 000 of the population. To our knowledge only several cases of TS and acromegaly coexistance have been reported up to date.Case presentation: A 43-year-old woman with TS was referred to our Department with an accidentally discovered pituitary m...

Follicle stimulating hormone (FSH) is produced by the anterior pituitary gland and it is a key hormone in the reproductive system. FSH is a heterodimeric glycoprotein composed with two extensively glycosylated protein sobunits (α and β) N-glycosylated in two positions (Asn52 and Asn78 in the FSHα subunit and Asn7 and Asn24 in the FSHβ subunit) giving rise to numerous isoforms of FSH. Glycosylation has been shown t...

Introduction: Gestational trophoblastic disease (GTD) is a group of disorders arising from abnormal proliferation of placental trophoblasts. Hydatiform mole (molar pregnancy) is a premalignant condition which is further devided in to partial and complete mole. Incidence of molar pregnancy is estimated to be 1 in 1000 pregnancies. Hyperthyroidism is one of the rare complications of molar pregnancy which, if not detected and treated, can lead to adverse consequences. We describe...

Polycystic ovary syndrome (PCOS) is one of the most prevalent endocrine disorder of women at reproductive-age and accounts for 80% of the causes of anovulatory infertility. Despite the widely characterized reproductive, endocrine, and metabolic abnormalities, the mechanisms underlying PCOS remain unclear. Thus, it is essential to identify novel biomarkers that will allow to disclosure novel pathways involved PCOS pathophysiology, which could then be used to improve PCOS manage...

Introduction: The limit of quantification (LOQ) is defined as the lowest analyte concentration that can be reproducibly measured with defined imprecision expressed as CV (coefficient of variation). Low concentrations of hormones estradiol, LH, FSH and testosterone are essential in diagnosis and monitoring of various endocrine disorders. Automated immunoassays have well known advantages, but still limited in achieving necessary analytical sensitivity. The major concern is to pr...

Background: Idiopathic hypogonadotropic hypogonadism (IHH) is manifested as absent or incomplete puberty and biochemically low levels of sex hormones, with low or inappropriately normal gonadotropin hormones. In the absence of structural or functional lesions of the hypothalamic or pituitary gland, the hypogonadism is referred as idiopathic hypogonadotropic hypogonadism (IHH). IHH is a genetically heterogeneous disorder which can be caused by pathogenic variants affecting prot...

Introduction: Approximately 0.5% of the world population experiences gender dysphoria, a discrepancy between one’s biological sex and gender identity. Transgender men (TM), individuals who were assigned female at birth but who identify as men, can benefit from therapy with testosterone (T) to address gender dysphoria. Although unfavourable changes in lipid profiles have been previously reported, most studies did not show an adverse impact of testosterone treatment on fast...

A 32-year-old primigravida woman, low risk pregnancy, BMI 20, presented at 29 weeks of gestation with headache and mildly raised blood pressure and normal laboratory tests. The patient had no signifcant medical history and the pregnancy to date had been uneventful. Physical examination showed blood pressure (BP) of 145/93 mm Hg. (Baseline, 100/70 mm Hg). Laboratory tests showed a baseline sodium of 134 mmol/l, with the rest of the biochemistry normal. She had been commenced on...

Introduction: Hirsutism is the presence of terminal hair growth in females with a male distribution pattern. It affects 5-15% of women, being an important sign of androgen excess. The main causes of hirsutism are polycystic ovary syndrome (PCOS) and idiopathic hyperandrogenism. Other significant but less frequent causes of hirsutism include nonclassic congenital adrenal hyperplasia (NCAH), androgen-secreting tumors, and Cushing’s syndrome.Case repor...

Introduction: We aimed to investigate serum galanin-like peptide levels and its’correlation with hormonal and metabolic parameters in patients with polycystic ovary syndrome (PCOS)Material and Methods: The study included 48 women (age range, 18-44 years) with a diagnosis of PCOS and control group that included 40 healthy females (age range, 18-46 years). Body mass index (BMI), waist circumference, Ferriman-Gallwey score, was evaluated and plasma glu...

Introduction: Thyroid autoimmune disorders interfere with the physiology of reproduction, cause premature ovarian aging, and mimic the early stage of menopause. Recently, no specific research was made to measure Grave’s disease and infertility rates in young patients.Case Report: Due to an inability to conceive for two years, a 24-year-old Caucasian female was referred to the clinic with typical symptoms and complaints of Grave’s disease. She h...

Introduction: Transgender women and gender diverse individuals with functioning testicles who are eligible for estrogen-based hormone therapy need to use antiandrogens in addition to estrogen to achieve adequate desired physical changes and suppress testosterone to cisgender women levels. Sublingually administered estradiol can achieve higher serum estradiol levels than traditionally administered oral estradiol, but may require multidaily dosing (1). We present a case of trans...

Introduction: Diabetes mellitus (DM) develops early in Turner syndrome (TS) and appears not related to common risk factors. The precise mechanism of its development is still a matter of debate: a defective insulin response seems to be involved, but the role of incretins is still undefined.Objective: To evaluate the implication of incretin release in the early stages of DM development in TS. Materials and Methods: 153 Turner patient...

Background and aims: Hypogonadotropic hypogonadism is characterised by inadequate secretion of gonadotropins (luteinising hormone (LH) and follicle-stimulating hormone (FSH)) leading to absent, partial or arrested puberty. In males, classical treatment with testosterone promotes virilisation but does not facilitate testicular growth or spermatogenesis. Conversely, treatment with gonadotropins or gonadotropin-releasing hormone (GnRH) stimulates Sertoli and Leydig cells directly...

Background and Aim: Polycystic ovary syndrome (PCOS) is associated with compositional and functional alterations in gut microbiota. The cytokine interleukin-22 (IL-22) is produced by both innate and adaptive immune cells and closely linked to gut immunity. IL-22 is tightly controlled by its binding protein (IL-22BP), which serves as an antagonist of IL-22 signaling. Preliminary animal studies and limited human data in Asian populations suggest lower circulating levels of IL-22...

Introduction: Delayed puberty (DP), affecting over 2% of adolescents, is defined as pubertal onset at 2-2.5 SDs later than the general population. Two common underlying aetiologies are self-limited DP (SLDP) and congenital hypogonadotrophic hypogonadism (HH). However, these can be difficult to discern between on first presentation of a patient to endocrinology services. This study sought to elucidate phenotypic and genotypic differences between the two diagnoses in order to op...

Vitamin D (VD) now considered a steroid hormone, has been correlated with male reproductive disorders. The activity of VD is mediated through its receptor (VDR), distributed in various tissues including reproductive tissues. VDR polymorphism located in the promoter region of the gene, rs17883968 (Cdx2) G → A associated with transcriptional activity. The aim of this study was to assess both seminal and serum VD levels in a group of infertile patients (n=87, media...

Introduction: The main goal of treatment in Cushing’s disease (CD) is to induce remission as well as to restore reproductive function. We aimed to evaluate the reproductive status of the female patients with CD encountered in sexually active patients after surgical with/without medical treatments.Method: The retrospective data was obtained from the medical records of the 72 female patients diagnosed with CD at hospital registration system. The patie...

Background: Turner syndrome (TS) is a rare genetic developmental disorder characterized by gonadal dysfunction, short stature and heart defects, among others. Women with TS often suffer from severe fatigue, for which they are typically referred to endocrinologists. The diagnostic work-up is generally time-consuming and invasive, but it rarely solves the problem. To prevent the personal and financial burden of unnecessary diagnostic procedures, it is crucial to understand fatig...

Introduction: Atrazine is one of the most widely used pesticides worldwide and a common contaminant in human drinking water. Atrazine is also a potent endocrine disruptor capable of causing a variety of negative health outcomes, including decreased testosterone production and infertility. Although harmful effects of atrazine on male reproductive health have been reported, little is known about its molecular mechanisms. Within the seminiferous tubules, Sertoli cells are respons...

Introduction: Omentin, also known as intelectin-1 (ITLN1), is a novel adipokine produced predominantly by visceral adipose tissue, which improves insulin sensitivity. Decreased levels of ITLN1 have been reported in the serum of obese and polycystic ovary syndrome patients, as well as in the serum and adipose tissue of obese Meishan (MS) compared to normal weight Large White (LW) pigs. However, the role of ITLN1 in female reproduction at different metabolic status is still unkn...

Background: Polycystic ovary syndrome (PCOS) is a common endocrine disorder that affects reproductive age women and predispose to the development of metabolic disturbances. However, Rotterdam criteria, commonly used to diagnose and classify this disorder, do not include metabolic markers. Recent research has shown that several metabolic factors may play a role in PCOS pathogenesis. Branched-chain amino acids (BCAA) are the group of essential amino acids including leucine, isol...

Aims: Testosterone therapy (TTh) has been postulated to increase the risk of prostate adverse events (PAEs) and erythrocytosis, risk further exacerbated in high-risk obese patients with type 2 diabetes (T2D) and functional hypogonadism (FH). We investigated safety aspects of TTh in obese males with FH and T2D by observing the incidence of PAEs and erythrocytosis and determining when statistically significant difference from the baseline manifests in hematocrit (Hct) and prosta...

Introduction: type 2 diabetes mellitus (T2DM) and hypogonadism are common conditions afflicting the aging male, often present together. The specific role of testosterone (T) replacement therapy (TRT) on glycometabolic profile and body composition, particularly in patients with T2DM, is still the object of an intense debate. The aim of the present study is to meta-analyze the role of TRT in T2DM considering all placebo and non-placebo-controlled randomized clinical trials (RCTs...

Introduction: Although the pathogenic mechanism is not completely understood, pharmacological treatments could negatively affect seminal parameters. The analysis of inflammatory (i.e. cytokines) and oxidative stress parameters represent a new tools to investigate the causes of idiopathic male infertility. The aim of this study was to evaluate the impact of medications on oxidative stress, inflammatory parameters and semen characteristics in male with idiopathic infertility.</p...

To maintain proper fertility the balance between formation and luteolysis of corpus luteum (CL) are necessary and strictly controlled events in female reproduction. Degeneration of CL is correlated with apoptosis and autophagy as well as connected with decreased progesterone (P4) level. Resistin is a new key player in the regulation of luteal cells function; our previously study showed that resistin have negative effect on P4 synthesis. Thus the aim of the present study was to...

Spontaneous dizygotic (DZ) twinning results from a double ovulation and runs in families indicating a genetic component. Endocrinology studies in mothers of DZ twins observed higher levels of follicle stimulation hormone (FSH) and FSHB was, together with SMAD3, one the first loci identified as genome wide significant in genome-wide association studies (GWAS) of having DZ twins. Several additional loci were recently found that indicate genes involved with fema...

Introduction: The SARS-CoV 2 pandemic has resulted in millions of deaths worldwide. It has been suggested that sex steroids may be involved in the prognosis of the disease.Material and methods: Male patients diagnosed with SARS-CoV-2 infection admitted to the Marqués de Valdecilla University Hospital (Spain). Testosterone, androstenedione, estradiol, DHEA and DHEAS were determined in the first 24 h of admission and severe COVID was defined as mortal...

Introduction: Evidence has suggested a relationship between female obesity and the outcomes of medically assisted reproduction techniques (MRT); however, the evidence regarding male obesity is still scarce and discordant. Aim: Evaluate the influence of female and male obesity on the results of MRT.Materials and methods: Retrospective analysis of 2159 couples, with and without obesity, submitted to the first treatment of medically a...

Introduction: The triad of primary hypothyroidism, precocious puberty and delayed bone age in children with cystic ovarian enlargement constitutes the syndrome of van wyk grumbach. Commonly reported as a rare complication of hypothyroidism in children, there are only a few case reports in adult population. Herewith, we are reporting the case of a 22-year-old hypothyroid lady, who presented with bilateral ovarian cysts. Considering hypothyroidism, a high risk for surgery, thyro...

Low testosterone levels are one of the causes of male infertility since testosterone is a crucial hormone for the regular functioning of the male reproductive tract. Testosterone is produced by Leydig cells (LC) in a process called testicular steroidogenesis, and if these cells are injured in any way, then the steroid production may be compromised. Endocrine Disrupting Chemicals (EDCs) are a group of substances that disturbs hormonal signaling. Their chemical nature and mode o...

Introduction: During gender affirming therapy in transgender men (TXM), androgens are administered at escalating doses. As therapy progresses, changes in various analytical parameters occur that may be of potential use in establishing a personalised androgen dosage and avoiding deleterious effects of the medication. The aim of our study was to study the evolution of different parameters throughout the course of gender affirming therapy.Material and metho...

Introduction: Maternal thyroid function is put under stress during pregnancy. Thyroid disorder is very common among expectant mothers. 10% of pregnancies have subclinical hypothyroidism. Anemia, low birth weight, and neonatal mental retardation are among side effects of hypothyroidism during pregnancy.Objective: The primary and main objective is to evaluate the results for pregnant women with abnormal thyroid profiles, both for the mother and the fetus. ...

Introduction: Biological variation (BV) data describe the variability of clinically important measurands around homeostatic set points within subjects (CVI) and between subjects (CVG). The availability of well characterized data enables the interpretation of laboratory results in clinical settings and can also be used to define analytical performance specifications. The aim of this study was to deliver BV estimates for anti-Müllerian hormone (AMH) and androstenedione amon...

Background: As of December 2019, the COVID-19 pandemic has spread rapidly, therefore Governments from all over the world promoted a strategy of social confinement through a general lockdown in order to contain it. During the months following its introduction, many studies reported a significant increase in the incidence of idiopathic central precocious puberty (CPP) throughout several countries, especially in girls.Purpose: The aim of our study was to co...

Infertility affects about 15% of couples, and, among these, 50% are related to the male factor. Male infertility can be caused by intrinsic factors, and these may either directly or indirectly affect gamete and testicular development as a consequence of endocrinopathies. In that sense, research regarding the involvement of endocrine hormones, particularly of nutritional status-linked hormones, in the male reproductive system has increased over the years. In fact, the rise on t...

Introduction: XX male syndrome is a disorder of sex development associated with a 46, XX karyotype and is characterized by such features as: small testes, hypergonadotropic hypogonadism, male external genitalia, gynecomastia and azoospermia. The estimated prevalence is 1/20.000 males. Gender role and gender identity are reported as male. Identification and subsequent treatment is necessary to avoid the manifestations of testosterone deficiency.Clinical C...

Women diagnosed with polycystic ovarian syndrome (PCOS) experience several physiological (weight gain, hirsutism, acne) and psychological challenges (emotional distress, anxiety, shame). This is particularly apparent in India where PCOS intersects with gender and patriarchal notions of womanhood (interfering with one’s marital prospects, compromising one’s ability to procreate). A young woman’s first source of support, therefore, is usually their mother. In Indi...

Background: A common request at an endocrine outpatient clinic is to rule out acromegaly in a patient with acromegaloid features. It is important to do so, since the excessive excretion of growth hormone can result in various serious comorbidities. But when growth hormone-IGF-1 axis abnormalities are excluded, the physician faces a diagnostic dilemma. Here we provide a systematic approach to these patients.Methods: We present a case series of patients vi...

Functional hypogonadism and prevalence of decreased total testosterone level in type 2 diabetic male patientsBackground: Approximately 50 % of older males with obesity and type 2 diabetes, exhibit low total testosterone levels, many also signs of hypogonadism. Functional hypogonadism negatively affects glycemic control, exacerbates early cardio-vascular complications, causes lower bone mineral density, erectile dysfunction, reduces lean body mass, and ac...

Background: Polycystic ovary syndrome (PCOS) is a highly prevalent disorder affecting 4%-20% of reproductive-aged women worldwide. Those affected by PCOS have a variety of clinical findings, which can affect their quality of life. Evidence suggests that polycystic ovarian syndrome and migraines are linked. However, the relationship between polycystic ovary syndrome and other types of headaches and their severity has not been studied.Objectives: The purpo...

Introduction: Sertoli-leydig cell tumours are neoplasms of ovarian sex cord stromal cells and account for 0.5-2% of ovarian tumours with reported incidence <0.5 % of all ovarian tumours. These tumours usually manifest in women at younger age (in 75 % patients average age of onset <30). Majority of these tumours produce hormones and up to 80% of ovarian Sertoli-Leydig cell tumours can manifest with signs of virilization.Case report: 18 year old fe...

Introduction: The discovery of a chronic pathology in a child upsets the pre-existing family balance and generates emotional reactions in the family. With the incidence of type 1 diabetes doubling over the past 30 years, many families find themselves faced with this emblematic situation.Objectives: To describe the parental experience of being diagnosed with type 1 diabetes in adolescents.Materials and Methods: Retrospective descrip...

Introduction : Polycystic ovary syndrome (PCOS) is associated with broad reproductive, metabolic and psychological complications, as well as significant heterogeneity in presentation between and within individuals across the lifespan. Therefore, there is a need for a multidisciplinary approach. A model of care (MoC) is conceptualised as an overarching provision of care that is codesigned with end-users and aligns with evidence-based practice and defined standards. The internat...

False elevation of estradiol(E2) due to immunoassay interference is a rare but important phenomenon reported in the literature. It is most commonly related to cross-reactivity(CR) from drugs sharing structural similarity with E2, namely fulvestrant and exemestane. These laboratory interferences(LI) can lead to unnecessary investigation/inappropriate treatments. Therefore, in such instances, a more selective and sensitive method is required. We present the case of a young femal...

Introduction: Hyperandrogenism is a relatively common medical condition, however severe post-menopausal hyperandrogenism should raise suspicion of a malignant etiology and prompt clinical evaluation. Furthermore, androgen excess has also been associated with severely decreased quality of life. As such, identification of its cause and adequate treatment should not be delayed.Case Report: We report a case of a 66-year-old woman, who had a 5-year history of...

Introduction: The term « Small for gestationnel age » (SGA) defines newborn infants whose birth weight and/or crown-heel length is less than 10th percentile for gestational age, or at least 2 standard deviation below the mean for the infant’s gestational age. It is considerd as a common aetiology of short stature. The aim of our study is to describe the prevalence of SGA in short stature, and thee growth prognosis in this population.Materi...