ESPE Abstracts

XY individuals with Disorders/Differences of Sex development (DSD) are characterized by reduced androgenization caused, in some children, by gonadal dysgenesis or, more rarely, testis regression during early fetal development. The genetic etiology for most patients with 46,XY gonadal dysgenesis and for all patients with testicular regression syndrome (TRS) is unknown. Identification of novel genes involved in DSD is crucial for providing an accurate clinical diagnosis, aiding ...

Introduction: Type 1 Diabetes (T1D) is an autoimmune disease where β-cells of the pancreatic islets are destroyed. The vast majority of T1D cases are not due to genetic predisposition, implying that the prevalence is associated with environmental, nongenetic factors. One such factor is the microbiome and its correlation with T1D has been investigated in a multitude of studies.Aims: To investigate whether the curr...

Background: Despite having a significant impact on patient care and treatment success, nurses’ roles and responsibilities in growth disorder (GD) treatment varies substantially between countries and should be optimised.Objective and hypotheses: To understand the critical role nurses play in patient clinical outcomes and how they can improve the patient management pathway.Methods: Nurses involved in the care of patients with GD...

Introduction: The diagnosis and treatment of patients with rare diseases is often difficult as most clinicians do not encounter them. Therefore, centralization and collaboration between centers of expertise is necessary. European Reference Networks (ERN’s) such as RareEndoERN provide a platform for this, with one of its main thematic groups having a specific focus on rare growth and obesity disorders. Genetic obesity encompasses a heterogeneous group of c...

Whilst several key genetic contributors to the phenotype of central precocious puberty (CPP) have been recognized, many familial cases remain without clear a genetic aetiology. Causal genetic variants are reported in imprinted genes Makorin ring finger protein 3 (MKRN3) and Delta-like homolog 1 (DLK1), alongside Kisspeptin-1 (KISS1) and (KISSR1), implicating mis-regulation of transcriptional control of the kisspeptin and GnRH neuroendocrine systems in onset of CPP. We recently...

Background: Children and adults with chronic thyroid disorders (TD) need continuous monitoring as periods of inadequate thyroid hormone substitution can impact metabolism, puberty and fertility. Transition from pediatric to adult-oriented care is often characterized by discontinuity in care resulting in poor health outcomes and impaired quality of life. Transition care (TC) for young adults with TD remains largely unknown.Objecti...

Polycystic ovary syndrome (PCOS) is a prevalent disorder in adolescent girls, commonly driven by hepato-visceral fat excess, usually presenting with hirsutism and menstrual irregularity, and often followed by subfertility and type 2 diabetes.We studied the miRNA profile of adolescent girls with PCOS, and the effects of randomized treatment with an oral contraceptive (OC) or with spironolactone-pioglitazone-metformin (SPIOMET, aiming at loss of hepato-vis...

Background: Sex chromosome DSD constitute an important category in the definition of DSD.Objective and hypotheses: The study included 379 patients comprising a wide spectrum of presenting features, associated with different arrays of chromosomal abnormalities aiming at. Studying the prevalence of Sex chromosomal abnormalities among DSD patients.Method: Patients were subjected to detailed clinical examination, pubertal staging, cyto...

Context: Cryptorchidism, a common consequence of HH, is treated with orchiopexy. We previously observed that continuous subcutaneous infusion of gonadotropins restored normal serum testosterone and inhibin B concentrations in two infants with hypogonadotropic hypogonadism (HH) and was associated with testicular descent in one.Objective: Test if subcutaneous gonadotropin infusion within the first year of life can allow testicular descent in eight boys wit...

Background: Idiopathic hypogonadotropic hypogonadism (HH) is highly genetically heterogeneous. To date, about 50 causative genes have been identified, estimated to account for up to 50% of hereditary cases. With next generation sequencing (NGS) technology now in wide clinical use, it is increasingly possible to determine the underlying genetic etiology of isolated and combined pituitary hormone deficiencies.Objective: We...