ESPE Abstracts

Background: Fractures are common in children, but a significant fracture history, defined as low-trauma vertebral fractures or multiple long bone fractures, is rare. Children with such history and no osteogenesis imperfecta (OI) are often presumed to have another Mendelian disease. However, in adults, multiple common risk alleles of small effect influence risk of fracture. We tested if subjects with a significant childhood fracture history have an increased bu...

Purpose: To evaluate the efficacy of GH in improving FAH in ISS children in a multicenter study.Methods: A real-world observation was carried out. Children with ISS in seven hospitals in China were enrolled. The height gain standard deviation score and the height gain over the target height were evaluated.Results: There were 344 ISS patients (217 boys and 127 girls). The baseline a...

Introduction: Premature adrenarche (PA) is usually define as the appearance of clinical signs of androgen action before the age of 8 years in girls and 9 years in boys, associated the serum DHEAS above 40µg/dl.Aims: 1) To characterize a population of prepubertal children with PA regarding birth weight, anthropometry, growth velocity, height difference, bone age, IGF1 and DHEAS. 2) To compare IgF1, bone age, growth v...

Introduction: There seems to be an undoubting, but still puzzling, relationship between obesity and premature adrenarche (PA).Aim: To characterize a population of prepubertal girls with PA and to compare girls with a normal body mass index (BMI) with girls who are overweight or obese, in what regards gestational age and birth weight, age at the referral, clinical signs, anthropometry, bone age and hormone profile.<p ...

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...

Neonatal diabetes (ND), classified as either permanent (PND) or transient (TND), occurs in 1/200,000 live births. In 50% cases of TND, remission presents within the first year of life, only to relapse later before puberty in 50% of cases. The most frequent cause is mutation of the 6q24 gene accompanied by mutations in heterozygosis of ABCC8 gene. 80% of mutations in this gene are in novo, due to autosomal recessive inheritance. Such cases respond to treatment with sulfonylurea...

Introduction: Mutations of the GKN gene are the most common cause of Mody diabetes. MODY II typically results in mildly elevated fasting blood sugar, without noticeable diabetes, maintaining good metabolic control without treatment.Clinical case: A 4.5 years old female infant, was referred due to presenting polyuria, polydipsia and fasting hyperglycemia of 126–130 mg/dl and 2 hours post-intake blood glucose level of 150–220 mg/dl. She was born ...

Introduction: Hyperglycemia is a common event in neonates, frequently associated with specific clinical conditions (sepsis, drugs or intravenous fluids) other than neonatal diabetes. Unusual endocrino-metabolic syndromes must be considered whenever initial studies are inconclusive.Case report: Newborn term female was admitted at the NICU for intrauterine growth restriction with fluxometric changes and low birth weight (1710 g). Gestational history includ...

Background: Despite current treatment, girls and women with severe forms of 21OHD are exposed lifelong to a chronic excess of androgens and the secondary effects of suppressive corticoids, which make gene therapy (GT) an option to be explored.Objective: To evaluate the effect of human CYP21 gene transfer mediated by adeno-associated virus (AAV) in a Cyp21−/− mouse model.Methods: 17 adult <em...

Background: Permanent neonatal diabetes (PND)with heterozygous mutations of KCNJ11, respond to treatment with sulphonylureas. We report a case of PND in a baby, and mother previously mis-diagnosed with Type 1 DM. Both were switched from insulin to oral sulphonylureas. We evaluate the response and evolution.Case report: A male newborn at 37 weeks’ gestation, with a birthweight 2750 g (40thC) and length 48 cm (40thC), was admitte...