ESPE Abstracts

Objective: to evaluate clinical and laboratory characteristics of various types of gonadal dysgenesis in girls with hypergonadotropic hypogonadism.Methods: 17 girls with hypergonadotropic hypogonadism (13.9±3.72) were examined. Inclusion criteria: characteristics of delayed puberty, no disorders of sex development, presence of müllerian duct derivatives, high levels of gonadotrophins. Tanner stage, antropometri...

Objective: To study clinical and laboratory characteristics of patients with disorders of sex development (DSD) 45,X/46,XY and 46,XY, partial gonadal dysgenesis.Subjects and Methods: It was included 27 patients with disorders of gonadal dysgenesis at birth to 9 years, which were divided into groups based on cytogenetic survey – DSD 46,XY, partial gonadal dysgenesis (n=10) and DSD 45,X/46,XY (n&...

Background: Osteoporosis is a complex disorder, influenced by both environmental and genetic factors. Primary osteoporosis is a rare early onset disorder with high morbidity and mortality. Wnt signaling pathway has been shown to be involved in the regulation of bone remodeling.Case: Native Argentinean boy born from a consanguineous family with history of retinal detachment in the maternal line. Delivered at term, birth weight 2900 g (−0.95 SDS), bi...

Background: GH treatment for ISS received first approval in the USA in 2003 based on data from two controlled clinical trials. Eligibility is restricted to those with baseline (BL) height standard deviation score (HtSDS) ≤−2.25; other approvals followed, but not in Europe.Objective and hypotheses: To assess outcomes of GH therapy in a large cohort of patients (pts) treated in routine clinical practice.Methods: Short-ter...

Objective: It is known that vitamin D has differential roles in cell proliferation, differentiation, neurotransmission and neuroplasticity in nervous system and exerts neurotrophic and neuroprotective effects, even different functions of vitamin D has been studied by advocating that vitamin D should be classified as a neurosteroid. It has been long known that vitamin D deficiency, VDR dysfunction, hyperparathyroidism and hypervitaminosis are potential causes for sensorineural ...

Background/objective and hypotheses: Chest circumference (CC) is related to intrauterine growth rate as well as to development-function of respiratory system. We evaluated the relevance of birth body weight (BW) and blood serum IGF1 (IG1) in birth CC (BC) relations to blood serum IGF-binding-protein-3 (IB3) after control for preterm birth (PTB), oxigen (O2) supplementation as %O2 in respiratory gases (O2R) and assisted ventilation of any kind (...

Aim: This study aimed to compare the levels of appetite-regulating hormones (ghrelin, leptin, peptide-YY (PYY), neuropeptide-Y (NPY)) in girls with idiopathic central precocious puberty (ICPP) before treatment with prepubertal girls, and to evaluate changes in these hormone levels and body composition during leuprolide acetate (LA) treatment.Methods: This prospective, cross-sectional study included girls with ICPP, isola...

Background: Congenital hyperinsulinism (CHI) is a heterogeneous group of disorders, characterized by hypoglycemia due to inappropriate insulin secretion. Despite huge progress in understanding the pathophysiology of CHI, its etiology remains unknown in about 30% of cases.Aim: To perform whole-exome sequencing in patients with CHI.Results: A total of 314 patients with congenital hyp...

Deficiency of pregnancy-associated plasma protein-A2 (PAPP-A2), a protease that regulates IGF-1 availability, causes postnatal growth failure and changes in bone size and density in humans and mice. The present study aimed to determine the effects of daily administration (from PND5 to PND35) of recombinant murine (rm) PAPP-A2, in comparison to rmGH and rmIGF1, on mouse auxology and bone microarchitecture in homozygous Pappa2 knock-out (ko/ko) mice of both sexes. Hormone treatm...

Background: Achondroplasia (ACH), caused by a pathogenic variant in the fibroblast growth factor receptor 3 gene (FGFR3), is characterized by severe growth failure and may be associated with multisystemic complications. The clinical phenotype is variable and relates to deformity of rhizomelic shortened legs, and myelon compression at cranial base and spine. Recent guidelines are published for diagnostic workflow, neurosurgical, orthopaedic and otorhinolaryngol...