ESPE Abstracts

Background: Recent guidelines suggest that NCCAH subjects stop their glucocorticoid therapy after achieving adult height. However, these guidelines do not differentiate between genotype groups within the NCCAH population.Aim: Compare ACTH stimulated cortisol and 17-hydroxyprogesterone (17OHP) levels, and the rate of partial cortisol insufficiency in NCCAH subjects carrying one mild and one severe (mild/severe) mutation v...

Introduction: Wolman Disease [WD] is a rare, autosomal recessive disease caused by lysosomal acid lipase deficiency and characterized by accumulation of cholesterol-esters and triglycerides primarily in the liver and spleen. Patients present within the first year of life with a rapidly progressive disease.Case: A girl born to consanguineous parents was diagnosed with WD due to characteristic manifestations and family history (genetically confirmed). At t...

Context: Spinal muscular atrophy (SMA) is an autosomal recessive inherited disease characterized by degeneration of anterior horn cells of the spinal cord and brainstem resulting in variable degrees of muscular atrophy and proximal muscle weakness. In December 2016, nusinersen was FDA-approved for the treatment of SMA in pediatric and adult patients. The introduction of this therapeutic modality has provided a platform for professional medical-care providers i...

Background and Objective: Obesity is known to affect pubertal timing. However, existing data are still controversial, observing either delayed or accelerated pubertal onset, especially among boys. Herein, we evaluated pubertal milestones and underlying hormonal changes between lean and obese children.Material and Methods: We examined 13,484 events from 4,855 lean (BMI SDS <1.28) and 1,983 obese (BMI SDS > 1.88) c...

Background: The leptin signaling cascade is a crucial regulator of satiety and energy homeostasis in the hypothalamus, comprising extracellular leptin binding to its receptor, phosphorylation and nuclear translocation of STAT3 (signal transducer and activator of transcription 3) and consecutively the generation of a central satiety signal via neuropeptide secretion. We identified three variants in the extracellular domains of the LEPR gene in two children with severe ...

Background: SGA is defined as birth weight under 2 standard deviations (SD) from the mean. Previous studies indicate that 10% of SGA babies do not have “catch-up growth” (CUG). They are eligible for growth hormone (GH) therapy to increase final height. The unexpected low demand for GH therapy in SGA babies, triggered us to survey the actual incidence of SGA and failure in CUG.Objective and hypotheses: To find the actual incidence of SGA and fai...

Background: The course of type 2 diabetes is more severe among children with obesity than among adults. Therefore, children at high risk for glycemic deterioration should be detected early enough to guide preventive (and interventional) clinical management.Methods: We established age- and puberty-specific reference values for 7 different indexes addressing the insulin response during oral glucose tolerance testing upon 4...

Context: Higher frequency of atypical gender identity, non-heterosexual fantasies and sexual relationships, and cross-gender role behavior has been reported in females with the more severe salt wasting form of congenital adrenal hyperplasia (CAH). Data on these aspects and quality of life (QOL) among the milder, more prevalent form, the non-classic CAH (NCCAH) is scarce.Objective: To assess gender identity, gender role, ...

Background: Adolescent obesity has been steadily increasing all over the developed world for the past several decades. Bariatric surgery in morbid obese adolescents is gaining popularity. The main surgical technique that is used on adolescents in Israel is a gastric sleeve.Aims: To study clinical and laboratory outcomes of adolescent patients 1 year after they underwent bariatric surgery.Methods: Anthropometric, clinical and labora...

Here we identified and characterized a heterozygous tandem duplication at the ASIP (agouti-signaling protein) gene locus causing ubiquitous, ectopic ASIP expression in a female index patient with extreme childhood obesity. In patient-derived adipose tissue samples, we observed pronounced differentiation of stroma-vascular fraction (SVF) cells into adipocytes in the patient compared to normal control cells. We further found reduced mitochondrial maximum respir...