ESPE Abstracts

Background: A combination of GH and a GnRH agonist is sometimes used to improve adult height in children with a poor height prediction, only few studies support this.Study design: In this multicenter study, 24 short girls in early puberty, with a bone age below 12.0 years, an adult height prediction below 151.0 cm and normal body proportions were treated with GH (Zomacton) transjections 50 μg/kg per day and triptorelin (Decapeptyl) i.m. (3.75 mg/mon...

Background: In patients with HC due to N540K FGFR3 mutations, adult height ranges 138–155 cm (men) and 128–145 cm in women. We have previously reported that a mean 0.075 μg/k.d rGH dose could allow a gain of 1.9 S.D. of height over 6.1 year and could reduce body disproportion in 6 young patients (Journal of Pediatrics 2012).Objectives: To confirm these results and extend observation of rGH effects.<p class="abst...

Recent data pertaining to the bio-psychosocial development of the adolescent, particularly from a neurobiological perspective, indicate that both at the level of individual care and of preventive strategies, the concepts, languages and strategies used should be adapted to the maturity of the adolescents. Moreover, since around thirty years under the era of AIDS, the medical scientific literature tackling the issue of adolescent sexuality and sexual behavior has sadly focused e...

Global Pediatric Endocrinology and Diabetes (GPED) aims at addressing needs that are common to all societies and is not intended to duplicate the specific societies’ activities. GPED’s website (www.globalpedendo.org) allows for registration of members as well as for a search function.Specific existing and potential projects include:i) Preventing redundancy of resources: developme...

WHO defines children born with intrauterine growth restriction (IUGR) as those with a birth weight below the 10th percentile of recommended birth weight by sex for gestational age. When gestational age is not available, a birth weight < 2500 g should be considered. The adult height in IUGR children treated with GH depends mainly on the duration of treatment and the age of initiation. Early diagnosis and early management before puberty are therefore imperative.<p class="...

Background: GLI2 is a zinc-finger transcription factor of the SHH signaling pathway, expressed during ventral forebrain and pituitary development. GLI2 mutations account for microforms of dominant holoprosencephaly. So far, only 15 unambiguous mutations were found in hypopituitarism –essentially combined pituitary hormone deficiency (CPHD)– frequently associated with holoprosencephaly-like malformations and/or polydactyly.Objective and...

Background: Twenty-three national healthcare networks for rare diseases were identified in 2014 as part of the French scheme on rare diseases. The rare endocrine disease national healthcare network FIRENDO (www.firendo.fr) includes six centers of reference with complementary fields of expertise certified between 2005 and 2006, 30 centers of competence covering all French regions, 18 research and 37 diagnostic laboratories, 5 national learned...

Classical growth hormone insensitivity (GHI) is caused by a defect of the growth hormone receptor and is characterized by severe postnatal growth failure, craniofacial disproportion, IGF-I deficiency and normal or elevated levels of growth hormone. This is a rare condition. With the development of new genetic techniques during the last two decades other monogenetic defects resulting in milder forms of GHI have been identified. These include genes involved in the GH-IGF-I axis:...

45,X/46,XY mosaicism is a rare karyotype and patients present with varying phenotypes from Turner females to males. Genital phenotype, gonadal function and histology, and growth are all affected to varying degrees by the karyotype. Information on these long-term outcomes is scarce and larger multicenter studies are needed. Therefore, in collaboration with 17 centers, we performed a study including 59 post-pubertal males that had reached adult height. Centers were identified an...

Background: Early life stress (ELS) are known to have a deleterious impact on health, but their potential long-term consequences on mortality remain to be assessed. World War 1 (WW1) has caused major stress and bereavement to millions of European mothers.Objectives and hypotheses: To compare the effects of a maternal stress occurring during intra uterine or in postnatal life upon long-term mortality.Patients: Thanks to recently dig...