ESPE Abstracts

Introduction: Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) is a rare life-limiting paediatric condition, with about 200 reported cases worldwide. The disease typically presents in early childhood (1.5-5y) with rapid-onset obesity. Other clinical symptoms may include central hypoventilation, hypothalamo-pituitary (H-P) dysfunction (hyperprolactinaemia, salt-water imbalances, anterior pituitary deficits...

Introduction: Familial glucocorticoid deficiency (FGD), also known as hereditary resistance to ACTH, is a rare autosomal recessive disease characterized by an isolated deficiency of glucocorticoids. We report the case of a child who presented with type 1 FGD due to mutation of the ACTH receptor, melanocortin-2 receptor (MC2R), associated with monosomy 9p.Case presentation: A 1-day-old female patient was born to consangui...

Background: Familial Hypercholesterolemia (FH) increases the risk of atherosclerosis, leading to early cardiovascular disease (CVD) and death at a younger age. Therefore, this study aims to describe the clinical characteristics of FH patients, assess the outcome of adopting reverse cascade screening, and describe the complications and rate of mortality in FH cases followed at our center.Methods & Materials: This is a...

Introduction: Prematurity, post-maturity, and significant deviations in birth weight are associated with significant morbidities and mortalities.Aim: The aim of this study was to identify the cumulative incidence (CI) of premature, postmature, and term birth rates additionally to find out the prevalence of SGA, AGA, and LGA using INTERGROWTH-21 st fetal growth standards.Methods: Th...

Introduction: Many potential factors can affect or be influenced by placental size. These include gestational age, maternal age, race, socioeconomic status, and gender of the baby.Aim: We investigated the possible association/s between placental weight on the one hand and birth weight, gestational age, maternal age, and gender of the baby in a large cohort of newborns (n = 80722)Me...

Introduction: 21-Hydroxylase deficiency is the most frequent inborn error of steroidogenesis causing congenital adrenal hyperplasia (CAH). Bone status is affected by chronic glucocorticoid therapy and excess androgen exposure in patients with CAH. Our objective is to evaluate the bone mineral metabolism and density in adulthood in a Tunisian cohort.Subjects and Methods: We underwent a prospective study of 26 patients ove...

Introduction: 21-Hydroxylase deficiency is the most frequent form of congenital adrenal hyperplasia (CAH) which is a common autosomal recessive disorder characterized by impaired adrenocortical and adrenomedullary function, and adrenal hyperandrogenism. Chronic glucocorticoid therapy and excess androgen exposure in patients with CAH may predispose them to developing a metabolic syndrome in adulthood.Our objective is to evaluate the metabolic syndrome in adulth...

Introduction: Rapid-onset Obesity with Hypoventilation, Hypothalamic dysfunction and Autonomic Dysregulation (ROHHAD) recently named ROHHAD-NeuroEndocrine Tumors (ROHHAD-NET) syndrome is a rare cause of obesity in children. The diagnosis is challenging and can easily be confused with other causes of obesity.Case Report: We report a case of a six-year-old boy, referred to our clinic for hypernatremia. Six months ago, he s...

Introduction: The association of juvenile hypothyroidism, precocious puberty and ovarian enlargement is known as Van Wyk and Grumbach syndrome (VWGS). This diagnosis is considered on the basis of imaging findings and thyroid function analysis.Case report: Herein we report a case of 9 years old girl was referred to the endocrinology department with a suspicion of precocious puberty after having progressive breast enlargem...

Background: Hyperinsulinaemic hypoglycaemia (HH) can be transient or permanent. Transient HH (spontaneous resolution of HH within few weeks) is associated with intrauterine growth restriction, maternal diabetes, erythroblastosis fetalis etc. Transient HH has not been reported with ABCC8/KCNJ11 mutations, which are the commonest cause of HH.Aim: Molecular characterisation of a novel ABCC8 mutation associated with a transient HH phenotype seen in a family ...