ESPE Abstracts

Idiopathic Ketotic Hypoglycemia (IKH) is the most common non-iatrogenic cause of hypoglycemia in children beyond infancy. The severity of the symptoms and frequency of hypoglycemic episodes may vary among the patients. The etiology of IKH is unclear; disturbances in gluconeogenesis, glycolysis and glycogenolysis were regarded as possible causes. Familial IKH recurrence is often observed, suggesting a genetic basis of glucose homeostasis dysregulation.We ...

Background: Prader-Willi syndrome (PWS) is a complex, multisystem disorder that arises from lack of expression of paternally imprinted genes on chromosome 15q11-q13. Its major clinical features include neonatal hypotonia, short stature, developmental delay, hyperphagia, childhood onset obesity, hypothalamic endocrinopathy and characteristic appearance. It is known that due to severe obesity PWS patients are prone to develop type 2 diabetes mellitus (T2DM), whi...

Myokines - biologically active proteins produces and secretes by skeletal muscles in response to physical activity (PA). They play a role in lipid and glucose metabolism, myogenesis and osteogenesis, thermogenesis activity. Exercise-induced expression of myokines in adolescents with simple obesity insufficiently studied.Objective: to determine which intensity and duration of PA maximally changes the level of myokines (interleukin-6 (IL-6...

Background: APS type 1 is known to be associated with autoimmune gastroenterological pathology, which could be the very first and the worst-controlled manifestation of APS type 1. Treating these conditions in APS type 1 is debatable at present.Objective and hypotheses: We describe gastroenterological pathology in7 patients with APS type 1: clinical specifics, therapy, outcomes.Methods:</str...

Background: The exaggerated adrenarche is an extreme variant of the maturation of the adrenal cortex, often associated with hyperinsulinemia and obesity. Hyperandrogenism by congenital adrenal hyperplasia (CAH) and adrenal neoplasms are differential diagnoses.Case report: Male, 8 years and 3 months, who came from another service with diagnosis of Precocious Puberty and Obesity, already being treated with Leuprolide acetate for 1 year and half. His compla...

Background: Androgen Insensitivity Syndrome is a common form of 46,XY DSD. In the literature, 85–90% of patients with complete form of Androgen Insensitivity (CAIS) and 30% of patients with parcial form (PAIS) have the AR gene mutation identified, In most cases are found a missense mutation with aminoacid change. Mutations without aminoacid changes (silent mutations) are rarely related to human diseases and have never been identified in patients with CAIS.<p class="ab...

Background: Mixed gonadal dysgenesis (MGD) is a heterogeneous group of gonadal, chromosomal and phenotypic abnormalities. The diagnosis is based on the presence of testicular tissue and streak.Objective and hypotheses: Casuistics description of patients with MGD in our hospital.Method: A retrospective analysis of medical records.Results: We studied 15 patients. The age at first visit ranged from two weeks to ...

Background: Outcomes related to sexual life are poorly explored in 46,XY DSD patients and most studies focus only in 46,XX DSD (CAH). In 46,XY DSD the observations of sexual outcomes are scares, but they overall indicate that the SexQoL is impaired, particularly regarding sexual function and sexual satisfaction.Objective and hypotheses: To evaluate sexual outcomes in a cohort of patients with 46,XY in adulthood and compare these observations with the res...

Introduction: Age at pubertal onset is a markedly inherited trait. The most common cause of pubertal delay, self-limited pubertal delay, is defined by the absence of secondary sexual characteristics after 13 years in girls and 14 years in boys, with progression before age 18. This study aimed to detect novel candidate genes for self-limited pubertal delay.Methods: Eighty-one patients with confirmed self-limited delayed p...

Background: Once-daily growth hormone (GH) therapy is an effective treatment for children with growth hormone deficiency (GHD), but compliance wanes with ongoing treatment. A once -weekly GH, somatrogon (hGH-CTP), is being developed to reduce the treatment burden of daily dosing for children and caregivers and potentially improve compliance and long-term efficacy. The impact of once-weekly somatrogon on long-term safety, local tolerability and immunogenicity w...