Endocrine Abstracts

Introduction: Non-alcoholic fatty liver disease (NAFLD) has become the leading cause of chronic liver disorders in Western countries, encompassing a spectrum of diseases ranging from simple steatosis to liver fibrosis and cirrhosis. Polycystic Ovary Syndrome (PCOS), the most common endocrine disorder of women during the reproductive period, is often implicated with NAFLD.Aim: To investigate the potential involvement of PCOS on the aggravation of NAFLD by...

Objective: To determine the incidence of endometrium pathology in women with autoimmune thyroid pathology and history of reproductive losses, including an assessment of histological images and immunohistochemical (IHC) analysis of the endometrial receptor status.Materials and methods: A prospective cohort study included a clinical and instrumental examination of 84 women aged 18 to 45 years with a history of 1 to 3 consecutive pregnancy losses. Patients ...

Objective: To assess olfactory bulbs sizes and define the most common molecular defects in adolescents with congenital isolated hypogonadotropic hypogonadism.Materials and Methods: Single-centre comparative study. 36 patients were included. The main group consisted of 21 patients with mean age of 15.9 years (17 boys, 4 girls) with congenital isolated hypogonadotropic hypogonadism (IHH): 13 - with Kallmann syndrome (KS), 8 – with normosmic isolated h...

Introduction: Detransition is the act of stopping or reversing a gender medical, social or surgical transition. The study’s purpose was to describe our experience with a group of transsexual people in detransition phase.Material and methods: A cohort of 204 people with gender incongruence attending the Identity Gender Unit Hospital Clinico of Valladolid from January 2014 to December 2022 was studied. Seven of those participants detransitioned and we...

Introduction: Polycystic ovary syndrome (PCOS) affects 5-10% of reproductive aged women. PCOS also manifests a chronic pro-inflammatory state. Estradiol is known to modulate the actions of immune cells, and, therefore, the antiviral mechanisms of these cells could also be modified by this hormone stimulus. In the presence of vitamin D, the binding energy of the spike protein to ACE2 was increased and transferring Apo to Locked S conformer of spike trimer was facilitated. Toget...

Background/Aim: In literature, many previous studies adressed that Gender-affirmig Hormone Therapy (GAHT) improves the factors affecting social functioning such as self-esteem, mental well-being, behavioral health and quality of life. In this study, we aimed to quantitatively evaluate the effects of the GAHT on social functioning using a psychiatric scale in people with female-to-male (FtM) in Türkiye.Methods: The single center, cross-sectional stud...

Introduction: We have recently reported that the use of cyproterone acetate (CPA) is associated with a highly significant increase of the risk of hypertension development after 5 years (adjusted hazard ratio 0.227, P< 0.001) in young transgender women. Due to the risks associated with the prolonged use of CPA (including the development of meningioma), the EMA presently recommends avoiding the use of doses > 10 mg CPA daily if possible. In fact, acceptable effi...

Purpose: Undercarboxylated-Osteocalcin (ucOCN), acting on its putative receptor GPRC6A, was shown to stimulate of testosterone (T) production by Leydig cells in rodents, in parallel with the hypothalamus-pituitary-gonadal axis (HPG) mediated by luteinizing hormone (LH). The aim of this cross-sectional study is to evaluate the association among serum ucOCN, rs2247911 polymorphism of GPRC6A gene and the endocrine/reproductive pattern in a cohort of infertile males, poss...

Background and Aims: Polycystic ovary syndrome (PCOS) usually develop symptoms during adolescence. However, diagnosis in adolescents is challenging because physiologic development overlap typical manifestation of PCOS. Recently, an international evidence-based PCOS guideline development group recommended that ultrasound should not be used for the diagnosis of PCOS in those with a gynecological age of < 8 years. Thus, girls with irregular menstruation (IM)/PCO or hyperandro...

Background: Preeclampsia (PE) is a multifactorial and multisystem disorder, with unknown pathophysiology, but factors such as defective trophoblast invasion and narrowing of spiral arteries may be contributing to the onset of PE and affecting mother and foetus development. Early prediction of PE may improve the surveillance and prognosis of hypertension in pregnant women in preventing associated complications. Therefore, it is essential to find markers for the detection of PE ...

Background: Low adiponectin levels in polycystic ovarian syndrome (PCOS) have been largely attributed to obesity which is common among these patients. In addition, evidence also suggests that low adiponectin in PCOS may be related to androgen excess in these women. Therefore, the aim of the present study was to examine the association of adiponectin levels and androgens in women with PCOS.Methods: A total of 60 women with PCOS who met the 2003 Rotterdam ...

Objective: To compare kisspeptin levels between different phenotypes of PCOS and to analyze the correlation between kisspeptin and PCOS-related hormonal and metabolic disturbances.Patients and methods: The study included 87 women with PCOS, and a control group of 27 clinically healthy women, corresponding in age and BMI to the patients with PCOS. Circulating levels of luteinizing hormone (LH), follicle-stimulating hormone (FSH), testosterone (T), sex-hor...

Background: Nowadays, single nucleotide polymorphisms in genes KISS1, KISS1R, MKRN3, DLK1 have been described as the leading cause of precocious hypothalamic-pituitary axis activation in children. Genetic testing in patients with hereditary forms of precocious puberty (PP) can expand our knowledge in underlying molecular mechanisms of the disease. The diagnosis of genetic bases is necessary for genetic counselling.Aim: To access clinical charact...

Introduction: Turner syndrome (TS) is a genetic condition, that results from the complete or partial loss of the second X chromosome in phenotypic females. Typically, patients with TS have growth retardation, altered pubertal development and facial dysmorphism. It’s also associated with other comorbidities.Aim: Here we report a rather rare finding which is the association of TS and Rokitansky-Küster Hauser (RKH) and we discuss the possible ethi...

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...

Background: Non-classic adrenal hyperplasia (NCAH), comparatively a rare disease, is characterised by mild to moderate hyperandrogenemia, hirsutism, oligomenorrhea, insulin resistance which incidentally are the hallmarks of polycystic ovary syndrome (PCOS)- a common disorder among reproductive aged women. The data on 17-hydroxyprogesterone (17-OHP)serum levels in NCAH has been reported globally but there is limited data available regarding the normal range among healthy Indian...

Background and Aims: Anti-Müllerian hormone (AMH) is secreted by granulosa cells of ovarian follicles. Since AMH reflects the number of antral follicles and the pronounced androgen secretion from follicles/stroma in women with polycystic ovary syndrome (PCOS) remains until late reproductive age, the age related relationship between AMH in women with PCOS are of interest. Methods: Women with PCOS (aged 15–42 years) (n=537) participated ...

Introduction: Androgen insensitivity syndrome (AIS) is a genetic sexual developmental disorder (DSD) inherited in an X-linked recessive mode, responsible for 30 to 70% of cases of DSD 46, XY. Androgen insensitivity can be complete (CAIS), partial (PAIS) or mild depending on the degree of receptor sensitivity to androgen stimulationCase report: A 17-year-old female patient with a history of inguinal hernia operated in childhood who was admitted for explor...

Background: Polycystic ovary syndrome (PCOS) is the most common endocrine disorder in women of reproductive age. Ovarian fibrosis and altered angiogenesis have been discussed as important factors in the pathogenesis of PCOS. Lifestyle modification is the first step in the treatment of PCOS. However, a specific composition of diet that should be included in a lifestyle change program has not been determined. The aim: Of the study was to compare the effect...

Introduction: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive genetic disorder involving hypogonadism manifested by cryptorchidism, micropenis and/or delayed pubertyObservation: We report the case of a 13 year old child, who was consulted for obesity and whose physical examination showed major signs of SBB: global obesity, polydactyly, learning difficulties and visual disorders. Genital examination revealed a 1 cm genital tubercle with a single...

Introduction: Williams-Beuren syndrome (WBS) is a rare neurodevelopmental disorder with distinctive facial appearance, cardiovascular anomalies, impaired somatic growth and infantile hypercalcemia. Growth retardation is a common clinical feature in patients with Williams-Beuren syndrome. We report a boy with Williams-Beuren syndrome, who was found to have growth hormone deficiency and is responding well to growth hormone therapyObservation : The patient ...

Background: Primary Ovarian Insufficiency (POI) is defined as the loss of ovarian function before age 40. It is characterized by menstrual disturbance with raised gonadotropins (>25 UI/l). It can manifest as primary amenorrhea (PA) or secondary amenorrhea (SA). The causes of POI include chromosomal and genetic defects, autoimmune processes, chemotherapy, radiation, infections, and surgery. However, the etiology remains unidentified in 80% of cases referred to as idiopathic...

Objective: Women with Hashimoto thyroiditis (HT) could have fertility problems. Serum anti-Müllerian hormone (AMH), which reflects functional ovarian reserve, is decreased in women with HT. The aim of the present study was to investigate the relation between serum levels of AMH and insulin resistance in women with HT compared to control group. Patients and methods: We examined 193 women: 37 subjects with HT, without previous history of treatment wit...

Background: Children who were born small for gestational age (SGA) and who do not have adequate catch-up growth until 4 years old have indication for treatment with recombinant human growth hormone (rhGH). The metabolic consequences of this treatment are relatively unknown. Objective: To evaluate the effect of rhGH treatment on insulin sensitivity and lipid profile.Materials and methods: A retrospective observational study of child...

Background: CHARGE Syndrome is a rare inherited congenital disorder [1]. The name reflects the initials of the clinical findings (Coloboma, Heart disease, Atresia of the choanae, Retarded growth and mental development, Genital anomalies, Ear malformations, and hearing loss). The disease has four major findings expressed as 4C; ocular coloboma, choanal atresia, cranial nerve abnormalities, and characteristic ear anomalies [2]. Objective: Here, a case of C...

Introduction: Androgen insensitivity syndrome rare X linked disorder that is typically characterized by evidence of feminization of the external genitalia at birth, abnormal secondary sexual development in puberty, and infertility in individuals with a 46,XY karyotype. Complete androgen insensitivity syndrome (CAIS) usually is recognized only at the teenage age due to primary amenorrhea. Recently, gonadectomy for patients with CAIS are postponed due to a mild risk of malignanc...

Introduction: Many studies demonstrated that 40%-60% of Turner patients were 45,X monosomy in blood lymphocytes, whereas the remaining patients had a structurally abnormal X- or Y-chromosome or were mosaics with a second cell line containing a normal or an abnormal sex chromosome.Case Summary : Five years old girl was brought to pediatric clinic for short stature. On exam, her height was 92 cm (<3th percentile), body weight was 13.3 kg (<3th perc...

Late-onset hypogonadism (LOH) remains a debatable entity in terms of diagnosis and management. However, the finding of primary hypogonadism (PHG) in ageing men, in the absence of organic cause, provides an unequivocal biochemical diagnosis. Indeed, it has been established in European Male Ageing Study (EMAS) that PHG, and not secondary hypogonadism, is strongly associated with advanced age and multi-comorbidities. That would be consistent with the underlying pathophysiology of...

Introduction: Hirsutism is defined as excessive pilosity development in women in androgen-dependent areas. It is the main revealing sign of hyperandrogenism. It is a frequent reason for consultation in Endocrinology.Methods: This is a retrospective study of 82 records of patients hospitalized for exploration of hirsutism in the endocrinology department of Farhat Hached Hospital in Sousse, over a period of 20 years from 1997 to 2017.<p class="abstext"...

Introduction: Maccune albright syndrome; is a rare disorder resulting from the involvement of several organs; the phenotype is variable depending on the clinical manifestations linked to the importance of the tissues affected by the mutation.Case report: In our patient, the diagnosis was not made until she was 8 years old, despite some suggestive signs: as café au lait skin macules at birth and early forearm bone fractures at the age of 3 years. At ...

Introduction: Signs of hyperandrogenism are frequent complaints for young adults and adolescents and a common cause of presentation to endocrinology service. Even if polycystic ovary syndrome is the most frequent etiology, differential diagnosis is mandatory. (1,2)Case report: We present the case of a 26-year-old female patient, obese, smoker, with a personal history of polycystic ovary syndrome and a family history of diabetes mellitus, who presented to...

The objective is to assess the presence of possible correlation between the calculated body fat percentage (BFP) indicator and indicators of metabolic control in women of reproductive age with polycystic ovarian syndrome (PCOS).Materials and Methods: The study included 80 women with a diagnosed PCOS according to the Rotterdam criteria. All study participants underwent standard general clinical studies with the determination of body mass index (BMI), wais...

Background: Several clinical features of chronic liver disease, such as sarcopenia, anaemia, low bone mass and gynecomastia are similar as manifestation of hypogonadism. Decreased testosterone levels are common in patients with severe liver disease and are associated with worse clinical outcomes and mortality.Case Presentation: A 33-year-old patient was admitted to the hospital due to severe alcoholic hepatitis. He was in poor general condition, icteric,...

Introduction: DSD is a group of disorders by which there is discrepancy between genomic sex and phenotypical sex. Most of cases of DSD are picked up during neonatal period due to ambiguous genitalia. Few cases are diagnosed in adolescence or even at puberty due to various causes like mild ambiguity, complete phenotype sex reversal, lack of breast development and primary amenorrhea, we review a case of 46XX CAH girl due to CYP21 hydroxylase deficiency which was diagnosed late a...

Introduction: Antenatal treatment with dexamethasone in pregnancies affected by congenital adrenal hyperplasias (CAH) therefore suppresses fetal androgen production and prevents virilisation of female infants. Antenatal DXM is reported to be efficacious, preventing or ameliorating virilisation in 80–85% of cases.Case report: 23-year-old patient pregnant at 6 weeks, not known of having congenital adrenal hyperplasia (CAH), concept of consanguineous m...

Introduction: Leydig cell tumor is rare, accounting for 1% of testicular tumors. Klinefelter syndrome is most often associated with extra-gonadal germ cell tumors. Its association with testicular tumors remains less frequent. Herein, we report the case of a Leydig cell tumor of the testis in a patient with Klinefelter syndrome.Observation: A 46-year-old man was referred to our department for hypogonadism. His past medical history included type 2 diabetes...

Introduction: Klinefelter syndrome is a sex chromosomal aneuploidy caused by an addition of X chromosome in males (47,XXY). 48,XXXY is a rare variant of this syndrome which is characterised by the presence of two additional X chromosomes in males and is estimated to occur in 1/50 000 male births. Here we describe a rare case of a 48, XXXY Klinefelter’s variant in a 17 years old patient revealed by an intellectuel development delay. Case Report : The...

Introduction: Testicular regression syndrome is defined as partial or complete absence of testicular tissue in the presence of a normal 46,XY male karyotype. This syndrome is very rare with an estimated prevalence of 1 case/20.000 males. Here we decribe a case of a testicular regression syndrome in an 18 years old patient. Case Report : We report the case of an 18 years old male patient followed for testicular regression syndrome since the age of 2, whic...

Primary amenorrhea is characterized by the absence of menstruation after the age of 14 without the development of secondary sexual characteristics or after the age of 16 with the development of these. Hypogonadotropic hypogonadism (HH) corresponds to an uncommon etiology of primary amenorrhea. In HH, the differential diagnosis includes Kallmann Syndrome, isolated hypogonadotropic hypogonadism and CHARGE Syndrome. The CHARGE syndrome corresponds to an extremely rare syndrome, w...

Introduction: Polycystic ovary syndrome is a very heterogeneous disease. Clinical and para clinical findings in such patients varies from one patient to another.Aim: The aim of our work is to study the clinical and para clinical profile of PCOS.Methods: This is a retrospective descriptive study of patients with PCOS followed in the endocrinology department of Hedi Chaker University Hospital of Sfax, Tunisia. PCOS +was diagnosed bas...

Introduction: Polycystic ovary syndrome is a pathology increasingly observed in women of childbearing age, in whom changes in hormonal and metabolic balance have been recordedAim: The aim of our work is to find Correlations between metabolic and hormonal parameters in PCOS patientsMethods: This is a retrospective descriptive and analytic study of patients with PCOS followed in the endocrinology department of Hedi Chaker University ...

Background: Bone mineral density measurement sometimes reveals osteoporosis that is a consequence of undiagnosed or neglected long-standing health disorders. These secondary causes of osteoporosis should be carefully investigated, especially in men.Case Presentation: A 63-year-old male complained of back pain and was referred to endocrinology clinic due to a poor densitometry finding indicating osteoporosis. He presented with severe obesity (body mass in...

Trisomy 21 or Down syndrome is the most common autosomal aneuploidy and the leading genetic cause of intellectual disability worldwide. It is a genetic disease, resulting from the presence of a supernumerary chromosome for the 21st chromosomal pair. It is responsible for a phenotype associating a dysmorphic syndrome, malformations (cardiac, digestive, urinary\..), psychomotor retardation, and can be accompanied by other pathologies and complications (epilepsy, leukemia\..). We...

Introduction: Sexual differentiation depends on a succession of events, each stage of which may be the site of abnormalities resulting in sexual ambiguitý. Case report: 17-year-old female patient, consults for primary amenorrhea. On physical examination the morphotype is female, height is normal, secondary sexual characteristics are Tanner stage 1 with sexual ambiguitý Prader stage 4, No palpable testes with a subpenile Orifice. Pelvic ultrasou...

Trisomy 18, or Edwards syndrome, is a chromosomal disorder, due to the presence of a supernumerary chromosome 18. Worldwide, it is estimated to have a prevalence of 1/6000 live births, of which the most affected are female. Infants with trisomy 18 have a high mortality rate, secondary to the lethal malformations associated with this syndrome. The objective of this study is to describe the clinical and cytogenetic characteristics of these patients and to demonstrate the value o...

Introduction: Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the X chromosome. Klinefelter syndrome is a genetic condition affecting males, and it often isn’t diagnosed until adulthood. It is manifested by gynecomastia, small testicles, erectile dysfunction, infirtility …Observation: 70-year-old male patient with motor and cerebral infirmity, several fractures following minimal trauma. Hospita...

Introduction: Secondary or primo-secondary amenorrhea suggests central damage of the hypothalamic-pituitary axis or peripheral damage of the reproductive system. It must be carefully investigated with an essential hormonal workup to determine the etiology and initiate the appropriate treatment.Observation: We report the case of a 21-year-old patient, admitted for exploration of a primo-secondary amenorrhea associated with a pituitary tumor syndrome made ...

Introduction: Steinert’s myotonic dystrophy (SMD) is a neuromuscular disorder with a multisystem distribution. It is a genetic disease with autosomal dominant transmission. It may be associated with various endocrine disorders.Observation: We report the case of a 47-year-old patient followed for DM since the age of 18, diabetic under insulin therapy for 20 years, hypertensive for 1 year under losartan 50 mg/d who was referred to us for evaluation of...