Endocrine Abstracts

The aim of this study was to analyze IGF1R gene expression in patients with idiopathic short stature (ISS) and correlate it with their GH and IGF1 status. In a previous study, we reported lower final height in subjects with ISS and GH peak ≥40 mU/l (Group1, n=16) compared to those with ISS and GH peak between 20 and 40 mU/l (Group2, n=15), after stimulation test (ITT) performed before or during puberty. Patients were 16–24 (Group1) and 15–26 (Grou...

Background: HIV-infected paediatric patients usually show impaired growth. Data reporting abnormalities in GH–IGF–IGFBPs system are scarce and inconclusive.Aim: To analyse blood concentration of the major components of IGF–IGFBPs system in these children and compare them to growth parameters and to cytokines levels.Methods: prepubertal HIV-infected children, aged 8.2±1.7 years, were evaluated every 6 months duri...

There is a clinical spectrum of non-classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NC-CAH). In addition, CYP21A2 gene mutations analysis present in homozygosis or as compound heterozygosis.Objectives: To evaluate the relationship between the genotype and biochemical profiles and also compare with clinical severity in NC-CAH.Patients and methods: Clinical, hormonal and molecular data of 57 patien...

Cretinism and neurological impairment are related to primary hypothyroidism (PHT) while children with central hypothyroidism (CHT) are usually diagnosed during the investigation process for short stature.Objective: To describe two children with unusual presentation of CHT.Case 1: Baby girl, born after 38 weeks of gestation, weighing 3000 g, and measuring 49.5 cm long was admitted when 3 months old. The parents reported stunted neur...