ESPE Abstracts

Introduction: Polycystic ovary syndrome (PCOS) is often related to metabolic associated fatty liver disease (MAFLD). MAFLD has been associated with altered hepatic function and systemic dysmetabolism and with abnormal circulating levels of signaling molecules, so-called organokines. Here, we assessed the effects of two randomized treatments on a set of organokines in adolescent girls with PCOS and without obesity, and report the associations with circulating b...

Background: DHEAS is the most abundant adrenal steroid and it is also a neurosteroid, produced at the cerebral level from pregnenolone and 17OH-pregnenolone. It antagonizes the effects of cortisol at the level of glucocorticoid receptors, modulating biological energy output, inflammatory status, action of other steroidal hormones, and different brain functions, hypothalamus being rich in corticosteroid receptors. DHEAS secretion is usually synchronized with co...

Background: HSD17B3 deficiency is diagnosed when a testosterone/androstenedione (T/A-dione) ratio after hCG stimulation is below 0.8, and this cut-off value is primarily based on hormonal data measured by conventional immunoassay (IA) in patients with feminized or ambiguous genitalia suggesting severely compromised T production. Liquid chromatography-tandem mass spectrometry (LC-MS/MS) has been regarded as the gold standard for steroid measurement, and it is n...

Background: Wilms' Tumor Suppressor Gene 1 (WT1) plays an essential role in urogenital and kidney development. Germline variants in WT1 are associated with life-threatening glomerulopathy, disorders of gonadal development in both 46,XY and 46,XX individuals, Wilms tumor, and gonadal malignancies. Phenotypic overlap among 46,XY affected subjects has been frequently observed and there is still scarce information regarding renal involvement...

Background: Access to transgender healthcare for adolescents varies largely across Europe (and beyond), depending on the regulations and healthcare system of the country where they live. In some countries, obtaining transgender healthcare can be almost impossible. Specifically, the age at which puberty suppression (PS) and subsequent gender-affirming hormones (GAH) are offered can vary widely. Medical treatment for adolescents with gender incongruence (GI) is ...

Background: Turner Syndrome (TS) is determine by karyotype analysis marked by loss or partial loss of one X chromosome in female. Apart from the distinctive physical traits such as short stature, sexual infantilism, and low-set ears, TS patients are more susceptible to shorter life expectancy as well as various endocrine disease including autoimmune disease. Previous studies have suggested that X chromosome count variation may play a role in genetic expression...

Context: Duplications occurring upstream of the SOX9 gene have been identified in a limited subset of patients with 46,XX testicular/ovotesticular differences/disorders of sex development (DSD). However, comprehensive understanding regarding their clinical presentation and diagnosis is limited.Objective: To gain further insight into the diagnosis of a large cohort of 46,XX individuals with duplications upstream ...

Introduction: HNF1B belongs to the organogenesis gene family. HNF1B is a rare autosomal disorder affecting early embryonic development of the urogenital tract, liver, pancreas and parathyroids. It is responsible for kidney damage and MODY type diabetes. It affects the female genital tract with a prevalence of uterine malformations of about 20%. To date, no study has evaluated the ovarian function or the gyneco-obstetrical profile of these patients.<p class...