ESPE Abstracts

Introduction: Disorders of sexual development (DSD) encompass a complex group of conditions characterized by a discrepancy between phenotypic and chromosomal sex, sometimes associated with impaired sex steroid synthesis or hormone action. DSD can be detected prenatally; however, establishing their etiology remains challenging. Our objective is to identify steroid profiles that could guide prenatal molecular analyses for diagnosis and perinatal care.<p clas...

Background: Hormone replacement in congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) aims at mimicking the physiologic secretion patterns of cortisol and aldosterone. However, available glucocorticoid preparations do not allow to achieve an adequate cortisol peak during the early morning hours, a milder peak during the evening, and low cortisol serum levels at night. As a consequence, intermittent ACTH hypersecretion may induce the...

Androgens play a pivotal role in the pathophysiology of Polycystic Ovary Syndrome (PCOS), a common endocrine disorder affecting adolescent girls. Elevated androgen levels are implicated in the development and progression of PCOS, leading to symptoms such as hirsutism, acne, and irregular menstrual cycles. In patients with PCOS, the inhibition of androgen synthesis presents a therapeutic challenge. Given its crucial role in androgen production, CYP17A1 has become a major target...

Introduction: Haematological malignancies represent the most frequent cancer in children. While there is an extensive literature on testicular function in adult survivors of childhood cancer, focused on sperm and androgen production, scarce information exists on the immediate impact in prepubertal boys.Aim: To characterise testicular function, focused on Sertoli cell biomarkers, from diagnosis up to 3 years after the end...

Introduction and aims: The current guidelines for the genetic workup of primary ovarian insufficiency (POI) include performing karyotype and assessing the Fragile X carrier state (FXS). We aimed to investigate the genetic etiologies of POI and assess the need for updated guidelines for POI workup.Methods: We conducted a prospective trial that included individuals with non-iatrogenic, normal karyotype POI, referred to two...

Introduction: Reversible post-translational modifications (PTMs) dynamically regulate the activities of numerous proteins. The Small Ubiquitin-related Modifier (SUMO) proteins are conjugated to lysines in their target proteins in a process termed SUMOylation. This PTM regulates, among others, transcription, gene silencing, chromatin structure and DNA repair. Here, we investigated the expression of five SUMO genes in testicular samples from patients with crypto...