ESPE Abstracts

Background: Hypothalamic hamartomas (HH) are congenital morphogenetic defects frequently associated with central precocious puberty (CPP).Objective and hypotheses: Data on the outcome of girls with CPP due to HH are limited.Method: We report two patients with CPP caused by HH, one with normal fertility.Results: Patient 1, now aged 33 years, was examined at age 15 months (vaginal bleeding, breast and pubic hai...

Introduction: Standard dose for GH deficient children is 0.025 mg/kg per day given subcutaneously once daily. Inborn panhypopituitarism is a special subset of GH deficiency. Its management is difficult because several hormones need to be replaced. We present three patients with perinatal onset panhypopituitarism.Case reports: Case 1 is a 7-year-old boy who had hypoglycaemic seizure with reanimation due to circulatory arrest shortly after birth. Panhypopi...

Background: Specific measurement of low serum/plasma concentrations of 17β-oestradiol (E2) is important in pre-pubertal and pubertal children in routine paediatric endocrinology. The role of oestrone (E1) and oestriol (E3) is not as comprehensively well understood in different pediatric endocrine disease states. We describe a method for high sensitivity analysis of estradiol (E2), oestrone (E1) and oestriol (E3) using LC-MS/MS.Objective and hypothes...

Background: Growth charts constitute an important tool to monitor a child’s growth and development, and thus detect growth anomalies. Growth assessment allows early referral and management of treatable disorders. In France, the currently used growth reference charts were derived at the end of 1970s, based on children born on 1950s in Paris area. Questions are raised about their use for growth monitoring of more recently born children.Objectives: To ...

Background: Type 1 diabetes may have an influence on concentration, attention and behaviour. These effects are relevant, as they may affect school performance and later career options for paediatric diabetes patients.Objective and hypotheses: This study examined attention, concentration and behavioural difficulties in diabetic children aged 5–13 years and their association with hypoglycaemic episodes and HbA1c.Method: 48 child...

Background: Diabetic ketoacidosis (DKA) is a medical emergency. The most physiologic fluid/electrolytes replacement rates and insulin dosis are still controversial.Objective and hypotheses: To evaluate the effectiveness and security of DKA treatment. Our protocol consists of 2 h’ rehydration with 0.9% sodium chloride (NaCl), followed by insulin infusion (0.1 U/kg per h) associated to 0.45% NaCl with 5% glucose. Potassium is replaced with monophospha...

Background: Patients with 21-Hydroxylase deficiency (21OHD) present increased levels of cytochrome P450 21-hydroxylase substrates, like progesterone and 17α-hydroxyprogesterone. Previous studies could show that these hormones are involved in the production of androgens via the backdoor pathway. As a second source of androgens, 11-oxyandrogens derived from the human adrenal glands are recognized as being major androgens. Specifically, 11-oxyandrogens ...

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: In children, estradiol (E2) concentrations are 1000-times lower in comparison to their precursors, the androgens. Depending on sex, age, and pathology, plasma concentrations vary in a broad range. The sensitive and specific determination of E2 is a particular challenge in pediatric endocrinology. Here we report a female patient aged 12 6/12 years and Tanner stage B1 with a presumed diagnosis of ovarian insufficiency. She showed a very high E2 con...

Background/aim: Hyperparathyroidism (HPHT) is a common feature in patients with X-linked hypophosphatemia (XLH) especially when treated with vitamin D analogues and phosphate supplements. Although the exact mechanism is not clear, it is assumed that phosphate supplements taken chronically stimulate parathyroid hormone (PTH) secretion. We prospectively assessed the effect of a novel pathogenetic treatment anti-FGF23 (burosumab) on PTH levels in children with XL...