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...

Introduction: HbA1C goals are rarely achieved in children with Type 1 diabetes (T1D) except at the cost of increased hypoglycaemia episodes. The Diabeloop Hybrid Closed-Loop system improves time in range and glycemic control in adults. However, the efficacy and safety of the system had not yet been evaluated in children. Our objective was to evaluate the safety and efficiency of the Diabeloop hybrid closed-loop system in prepubescent children (DBL4K).<p cl...

Background and Aim: A substantial proportion of SGA patients have a syndrome underlying their growth restriction. Most SGA cohorts comprise both syndromic (S-SGA) and non-syndromic patients (nonS-SGA) impeding delineation of the recombinant human growth hormone (rhGH) response. We present a detailed characterization of the Belgian SGA cohort and analyze rhGH response based on adult height (AH).Patients & Methods: Cli...

Background: Bilateral testicular regression (BTR) is characterized by the absence of both testicles in a newborn male or shortly thereafter, and presenting as bilateral cryptorchidism with undetectable AMH levels and the absence of Müllerian structures on pelvic ultrasound. Depending on when the regression occurs during fetal development, the condition can be associated with a micropenis. Few studies have explored the etiology and long-term outcome of BTR...

Introduction: Congenital hyperinsulinism (CHI) is a group of rare endocrine disorders characterized by repeated episodes of hypoglycemia caused by an excessive insulin secretion from the pancreas beta cells. The etiopathogenesis, phenotype, treatment, and prognosis of individual CHI cases are variable and not completely described.Aims: To gather and describe clinical and genetic data about CHI cases diagnosed within the large EuRRECa net...

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...

Background: Long-term outcome studies on bilateral testicular regression (BTR) are currently lacking, hampering counseling of patients and parents. Although a vascular origin was initially reported, recent studies revealed a genetic origin in a subset of patients (i.e. DHX37 gene variants). How this relates to patient outcomes remains unclear.Methods: Thirty-five patients with BTR were recruited in eight Belgian centers ...

Background: Since the initial clinical description of Turner Syndrome (TS), there have been notable changes in the genotypic and phenotypic presentation of the disease. Our aimis to provide an overview of the current genetic and clinical characteristics of a large Belgian cohort of girls with TS, and the evolution over the last 3 decades.Methods: We therefore analyzed the genetic and clinical data of growth hormone(GH)-t...