ESPE Abstracts

Introduction: Prader-Willi Syndrome (PWS) is a complex hypothalamic disorder, causing hypotonia, intellectual disability (ID), pituitary hormone deficiencies and hyperphagia. Up to 4% of young patients with PWS die unexpectedly, every year. The mean age of reported deaths in PWS is 29.5 years; 20% of deaths even occur below age 18 years. Mortality data show that more than 50% of deaths are of cardio-pulmonary origin. Morbid obesity, diabetes and hypertension are strong risk fa...

Purpose: Transgender adolescents are treated with gonadotropin-releasing hormone analogues (GnRHa), followed by the addition of gender-affirming hormones. Since during puberty the body reaches maturation, concerns have been risen that the treatment may have negative outcome later in life. The aim of this study is to determine whether treatment with GnRHa and subsequent addition of hormones results in a more atherogenic profile than peers at the age of 22.<p class="abstext"...

Background: Gonadotropin-releasing hormone (GNRH) and its receptor (GNRHR) are central regulators of puberty. Loss-of-function mutations of the GNRH-GNRHR signaling pathway are associated with congenital hypogonadotropic hypogonadism, but no mutations were reported so far in patients with central precocious puberty (CPP). Animal data demonstrate the importance of microRNAs in pubertal timing regulation. Among others, miR200b regulates Gnrh1 gene expression in GnRH neu...

Background: Increased risk of obesity and cardio-metabolic risk factors were reported in patients with classical congenital adrenal hyperplasia but little is known about adiposity among patients with non-classical congenital adrenal hyperplasia (NCCAH).Aim: To assess the prevalence of overweight, obesity and cardio-metabolic risk factors among NCCAH patients. Methods: A cross-sectional retrospective study of 114 NCCAH patients (93 ...

Introduction: Differentiation of the external genitalia depends on serum androgen concentrations in the foetal life. The classic form of Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency (21OHD) is the most frequent cause of female genital ambiguity. It is an autosomal recessive disorder due to CYP21A2 mutations that are classified in groups based on their in vitro residual enzymatic activity. The phenotype usually is predicted by the less severe mutatio...

Objectives: Thiamine responsive megaloblastic anemia syndrome (TRMA) is characterized by the clinical triad of megaloblastic anemia, non-immune diabetes mellitus and sensorineural deafness. It is a very rare autosomal recessive disease with an increased frequency in consanguineous marriages and isolated communities. The syndrome is due to intracellular thiamine deficiency which is the result of a defective high affinity low performance thiamine transporter pro...

Background: Type 1 diabetes (T1D) in teenagers is challenging: the constraints of diabetes add up to the specificities of a delicate age; moreover, this period of life is often associated with impaired metabolic control (i.e. higher hemoglobin A1c - HbA1c). Therapeutic Patient Education (TPE) enables people with chronic diseases to manage their illness and yields benefits in both health and financial terms. The first step of TPE approach is to make an “educational diagnos...

Background: Educating patients and families on the management of Type 1 Diabetes Mellitus (DM) has always been a challenge. Some endocrinologists educate patients and families with new onset Type 1 DM in the inpatient setting, while others have tried to do this process as an outpatient given the changes in the limits of inpatient coverage. Given the challenges in the education process, we must find new and innovative ways to educate patients and families efficiently in order t...

Changes in abdominal fat distribution in the first months of life might be critical for adult metabolic health. Type of feeding might influence the abdominal fat distribution in early life. This study aims to determine whether type of feeding is related to abdominal fat distribution and whether changes in early life are associated with abdominal fat distribution at the age of 2 years.Methods: In the Sophia Pluto Cohort, infants are examined at age 1 and ...

Obese children are at risk for increased DHEAS production, which is assumed to arise from hyperinsulinemia, hyperleptinemia, increased IGF-1 production or chronic low grade inflammation. Exaggerated adrenarche is suspected to be a forerunner of polycystic ovary syndrome in girls, but its consequences in obese boys are less well studied. In this study we evaluated the presence of exaggerated adrenarche in a cohort of obese boys and girls and investigated whether obese children ...