ESPE Abstracts

Introduction: Hydrometrocolpos (HMC) develops in a female child as a result of a vaginal outflow tract obstruction and accumulation of secretions. HMC can have associated with other malformations or associated syndromes. Imperforated hymen, vaginal atresia, persistent urogenital sinus, and cloacal malformation, are the common causes for HMC. Congenital adrenal hyperplasia causing androgen exposure during the fetal life leads to varying degree of ambiguous geni...

Background: Early gain in fat mass (FM) might be influenced by type of feeding. Excessive gain in FM during the first three months of life is associated with an increased risk for adiposity and cardiovascular diseases. This three-month period is also known as the critical window for adiposity programming.Aims: To investigate differences in body composition between exclusively breastfed (BF) and formula fed (FF) infants from birth to 24 months.<p clas...

The majority of treated obese children fail the goals set in the medium-long term or do not show themselves up at the short term follow up. These results, which do not improve even with the proliferation of facilities aimed to the treatment of obesity and of its complications, pose serious questions on how to make the best use of scarce resources available by the National health system. We have visited, between 2013 and 2015, 378 seriously obese children (>2 DS from nation...

Background: A thirty-four months old boy was referred for precocious puberty. He was the first child of healthy non-consanguineous parents. His family history was unremarkable. He had no exposure to oestrogenic endocrine-disrupting chemicals. He had presented secondary sexual characteristics for five months: pubic hair, enlarged testicular volume to 6 ml (Tanner stage P2A1G2) and enlarged penile size. He had a deepening voice and aggressive behavior. He had a significant growt...

Background: Loss of function mutations in KISS1R, which encodes kisspeptin receptor have been reported in very few patients with normosmic isolated hypogonadotropic hypogonadism (nIHH).Objective and hypotheses: To describe the phenotype of the nIHH female patient with a novel homozygous KISS1R mutation and to characterize functionally this mutation. The patient was a 28 year-old Senegalese woman with primary amenorrhea. She was the seco...

Background: Bone X-rays provide the main diagnostic parameters for chondrodysplasia, including common dyschondrosteosis (DC). Skeleton is usually studied piece by piece by visual analysis in search of characteristic signs. The phenotypic spectrum of DC is large. Indeed, children who have seemingly idiopathic short stature (ISS) may have subtle forms of DC that can be unrecognized.Objectives: Provide a user-friendly computer-assisted program that facilita...

Background: Telomere length at birth is a major determinant of telomere length in late adulthood. However, the prenatal setting of telomere length is poorly understood. Individuals born large from non-diabetic mothers are at lower risk for later-life disorders than those born small, a feature of their longer health span being a higher lean mass that provides more muscle strength and that is already present in infancy.Objective, hypotheses & methods: ...

Introduction: Growth promoting effects of GH occur in parallel with its impact on insulin sensitivity and lipid metabolism; underlying biological networks that link these actions are not defined. Our objective was to identify gene expression (GE) networks linking growth with metabolic responses in GH-treated children with GHD.Methods/design: Pre-pubertal children with GH Deficiency GHD (n=125) were enrolled from the PREDICT short-term (NCT002561...

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: McCune–Albright syndrome (MAS) is a sporadic and rare disorder, clinically defined by the classic triad of cafè-au-lait skin lesions, polyostotic fibrous dysplasia, and peripheral precocious puberty. Precocious puberty is common in girls, but has been reported in only 15% of affected boys. Clinical trials on therapeutic management of precocious puberty in MAS boys are limited to case reports or small patient cohorts and no data are reported about final he...