ESPE Abstracts

Background: CHARGE syndrome is a variable entity. Clinical diagnosis is based on the Blake-Verloes criteria and can be confirmed by identifying a mutation in CHD7. Hypoplasia of the genitalia is a common feature and is most often attributable to hypogonadotropic hypogonadism which is described in 81% of the males and 93% of the female patients. Other genital anomalies are rare. Combined agenesis of the uterus and ovaries is so far only reported in one patient with sus...

Background: The potential benefit of growth hormone (GH) therapy on health-related QOL (HQoL) of children with short stature related to GH deficiency (GHD) or smallness for gestational age (SGA) has not been well documented.Objective and hypotheses: Our objective was to assess potential disease and treatment related predictors for a poor HQoL in GH treated children. Children with male gender, SGA disorder, greater height deficit at start of GH and poor h...

Background and Aim: Recombinant growth hormone (GH) is reimbursed for the treatment of short stature (<-2.5 Z-score) in children born small for gestational age (SGA) without postnatal growth, aged ≥ 4 years with a height Z-score >1 below mid-parental height (MPH). We wanted to determine the current GH prescribing practices by pediatric endocrinologists (PE) for SGA related short stature and document the percentages of treated children at risk for...