ESPE Abstracts

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...

Anthropometrics is an important part of pediatrics and public health. Its non-invasiveness, simplicity and low cost makes anthropometry attractive for several purposes. It is a valuable method for the screening or assessment of growth disorders, as well as under- and over-nutrition. Furthermore, specific anthropometric measures can be used as indicators of general fitness or cardiovascular risk factors (insulin resistance and dyslipidemia) in (obese) children, as well as marke...

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...

Background: Graves’ disease (GD) involves autoimmunity against TSH receptor (TSHR) bearing cells, leading to hyperthyroidism and often orbitopathy. When hyperthyroidism is treated with radioactive iodine (RAI), exacerbation of the orbital disease can occur.Objective and hypotheses: We hypothesized that RAI has immune effects affecting the balance between auto-reactive T cells and T cells with regulatory properties.Method: We m...

Background: Preserving spermatogonial stem cell (SSCs) in Klinefelter syndrome (KS) adolescents by testicular tissue banking to safeguard their fertility potential is under debate. While diagnosis of KS is frequently made in late adolescence or young adulthood, when testicular fibrosis is already present, this strategy may be an option when associated with in vitro culture and maturation of SSC.Objective and hypotheses: To evaluate the attitude ...

Background: Final results from MEGHA study required by Health French Authorities (HAS).Objective and hypotheses: Objectives are to carry out longitudinal follow-up during maximum 5 years of AGHD patients treated with Saizen, with a description of prescription modalities, demographic and clinical characteristics, patient compliance, product safety, and quality of life.Method: MEGHA is a multicentric study, with prospective follow-up...

Introduction: Monogenic diabetes (MD) accounts for at least 3% of all pediatric diabetes cases. MD is often misdiagnosed as type 1 or type 2 diabetes, because of its wide phenotypic spectrum. While clinical and biochemical parameters can suggest MD, a definitive diagnosis requires genetic analysis. We conducted a broad study to diagnose MD cases. Then, with the gained knowledge, we designed a new diagnostic to...

Background: Access to essential medicines remains suboptimal in Africa. The World Health Organisation (WHO) maintains two non-binding essential medicine lists (EML) (for children and for adults). Individual countries refer to these lists to prepare national EMLs.Objective and hypotheses: To determine which medicines commonly used in pediatric endocrinology and diabetes are included in the WHO and national EMLs in the WHO African region. We hypothesize th...

Introduction: There are few published large-cohort studies examining the long-term impact of GNRH analogue treatment for precocious puberty (PP) on fertility in women. The PREFER study analysed fertility in a large cohort of women treated during childhood for PP with triptorelin.Methods: PREFER was a longitudinal, descriptive, non-comparative, epidemiological study conducted in 23 centres in France between February 2007 and November 2009. Women aged &#88...

Background: Patients with mutations of the short-stature-homeobox-containing (SHOX) gene likely have impaired growth, with or without a spectrum of skeletal anomalies consistent with mesomelic skeletal dysplasia. In a multinational clinical trial, GH has been shown to increase growth rate and final height (FH).Objective and hypotheses: The aim of this analysis was to describe FH outcome after GH treatment in an observational setting (Genetics and Neuroen...