ESPE Abstracts

Background: A basal 17-hydroxyprogesterone (17-OHP) plasma level of 6.0 nmol/l was suggested as a threshold for the diagnosis of non-classical congenital adrenal hyperplasia (NCCAH), particularly in children presenting with precocious pubarche (PP).Objective: The present study aimed to determine if this threshold could lead to underdiagnosis of NCCAH.Method: In a retrospective study the cohort of pediatric patients (n=145,...

Background: Mutations in BRAF are a rare cause of cardiofaciocutaneous syndrome (CFC). Recently, BRAF mutations have been reported in papillary craniopharyngiomas, but have not been described in patients with other hypothalamo-pituitary abnormalities. We describe three patients with CFC and septo-optic dysplasia (SOD) associated with heterozygous BRAF mutations.Cases: Patients presented in childhood with clinical features of ge...

Background: Poland syndrome (PS) is characterized by unilateral absence or hypoplasia of the pectoralis muscle, most frequently involving the sternocostal portion of the pectoralis major muscle, and a variable degree of ipsilateral hand and digit anomalies, including symbrachydactyly. Congenital Hyperinsulinism (CHI) is the result of unregulated insulin secretion from the pancreatic β-cells leading to severe hypoglycaemia. We report a baby with Poland’s syndrome and ...

Background: It is debated whether oral glucose tolerance test (OGTT) should be routine in child obesity units to identify high risk individuals for impaired fasting glucose (IFG) or impaired glucose tolerance (IGT).Aims: To investigate the prevalence of some signs of metabolic syndrome in child obesity.Methods: All consecutive newly referred obese children (BMI>30) at a Swedish university unit were evaluated with fasting glucos...

Gynecomastia is a well-known effect of treatment with op’-DDD in male adults. Metrorragia in young girls is a less known effect because only a few children receive this drug, mostly for bad prognosis adrenocortical carcinoma. Moreover, it has been reported that op’DDD causes precocious puberty, but cases are not well documented. We report 2 cases of young girls receiving high-dose op’-DDD who presented recurrent metrorragia. Case 1: An 18 month old girl was diag...

Our patient was a 19-year-old female who was referred for evaluation of secondary amenorrhea and underdeveloped secondary sexual characteristics, having undergone her first and only menstrual cycle at age 16. She had experienced four episodes of hypoglycemia during her childhood; two were associated with seizure activity. She was evaluated by endocrinology after her second episode of hypoglycemia at 3 years of age and no cause could be identified. She also had learning difficu...

Background: The diagnosis, treatment, and management of growth disorders can have a substantial burden on patients and caregivers. Research was conducted with patient experts to understand challenges experienced by patients with growth disorders and their caregivers, and identify opportunities to improve care.Methods: A mixed-methods approach was used to obtain insights from patient experts between October 2022-January 2...

Background: Hyperinsulinism is characterised by inappropriate insulin secretion during hypoglycaemia. Mutations in the KATP channel genes, ABCC8 and KCNJ11, are the most common cause of persistent congenital hyperinsulinism. The diagnosis of KATP hyperinsulinism is key for the clinical management of the condition.Aim: We aimed to determine the clinical features that help to identify KATP hyperinsulinism...

Background: Congenital hyperinsulinism (HI) is characterised by inappropriate insulin secretion despite low blood glucose which is commonly diagnosed in infancy (before the age of 12 months). Screening of the >20 known genes identifies a mutation in over 45% of cases. The likelihood of identifying a mutation in a known gene in individuals diagnosed after 12 months is not currently known.Aim: We aimed to identify the ...

Introduction: Urinary gonadotrophins measurement is a noninvasive method for evaluation of pubertal development and may have utility in population studies.Objectives: To investigate the utility of urinary gonadotrophins as a noninvasive biomarker of puberty in boys and girls.Methods: School-based adolescent cohort study with two time points for collecting school time urine samples ...