ESPE Abstracts

Context: Premature breast enlargement before the age of 8 in girls is caused by a broad spectrum from premature thelarche to central precocious puberty. Treatment with GnRH analogues aim to delay either early onset of menstruation with its psychological consequences and/or early epiphyseal fusion. The Indication of treatment is a challenge classically based on the result of the luteinizing hormone (LH)-releasing hormone (LHRH) stimulation test.<p class="ab...

Background: Noonan syndrome (NS) is a frequent autosomal dominant disorder characterized by facial dysmorphisms, heart defects, short stature and learning disabilities. It is caused by mutations in genes within the RAS/MAPK signaling pathway, thus called RASopathies. The RAS/MAPK pathway can also impact the signal transduction of hormones involved in body weight, carbohydrate, and lipid metabolism features scarcely studied only in animal models. This study aimed to describe me...

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: 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...

Background: We recently demonstrated the presence of mast cells in human fetal adrenal gland from 18–20 weeks of gestation (WG) within the subcapsular layer. In the adult adrenal, mast cells have been implicated in mineralocorticoid synthesis and secretion especially in aldosterone-producing adenomas. Because similarities exist between tumors and normal fetal development and as cell-to-cell interactions involving immune cells are implicated in organogenesis, we hypothesiz...

Objective: This feasibility study aimed to investigate the anabolic effect of insulin on metabolites captured in exhaled breath during acute diabetic ketoacidosis (DKA) for a better pathophysiological understanding.Research Design and Methods: Children and adolescents with type 1 diabetes (T1D) with DKA (n=5) and without DKA (n=7) and children with epilepsy without ketogenic diet (n=18) were re...

Case Report: A 13-year old male presented to a dental office for evaluation of prognathism. After evaluation, his dentist referred him to pediatric endocrinology. He had no significant past medical history. He denied any signs or symptoms associated with any hormonal deficit or excess, as well as headaches or visual disturbances. Denied excessive growth of hands or feet. Parents reported that he had been having pubic and axillary hair, mild acne, and significant growth for the...

Background: Congenital isolated ACTH deficiency (IAD) is a rare inherited disorder that is clinically and genetically heterogeneous. Patients are characterized by low or absent cortisol production secondary to low plasma ACTH despite normal secretion of other pituitary hormones and the absence of structural pituitary defects. Mutations in the TBX19 gene, a T-box factor selectively expressed in developing corticotroph cells, have been identified so far only in cases of neonatal...

Background: Severe insulin resistant (IR) type A is a rare inherited disorder characterized by glucose metabolism disturbances without obesity, acanthosis nigricans and hyperandrogenia due to INSR defects.Case report: A 10-year-old girl was admitted because of skin papillomatosis and hyperpigmentations since her 7 years. She had early puberty with pubarche at 8 years and telarche at 9 years. Examination revealed normal height and weight (SDS BMI...

Background: The relationship of obesity and emotional disorders is confirmed in many studies. It is known that one of the substances responsible for the emotional status is dopamine.Objective: To study the features of neuroendocrine status in obese children.Methods: We examined 285 children (206 obese, age 14.56±2 years, BMI 32.86±5.1 kg/m2; 79 normal weight (control), 14.51±2.2 years (P=0.95), 19...