ESPE Abstracts

Sex chromosome disorders, including sex chromosome mosaicism, result in a large clinical spectrum. There is scarce information about the histological pattern of these gonads.Aim: to characterize the histology and cell markers pattern in gonads of patients with chromosomal mosaicism.Gonadal biopsies from thirteen patients with chromosomal mosaicism, including chromosome Y were studied. Six were rearing as male and s...

The contiguous gene deletion syndrome, CAH-X, was reported in an 8.5% of Congenital Adrenal Hyperplasia (CAH) patients with a TNXA/TNXB chimera. This results in deletions of CYP21A2 gene, encoding 21-hydroxylase necessary for cortisol biosynthesis, and TNXB, encoding the extracellular matrix glycoprotein tenascin-X (TNX). There are three TNXA/TNXB chimeras (CH1, CH2, CH3) that differ in the junction site, resulting in TNXB haploinsu...

Aggrecan (ACAN) is the major proteoglycan in the articular cartilage, critical for the structure and function of growth plate cartilage.Case Report: 11-year-old (y) boy admitted at 1.8 y of chronological age (CA), due to poor growth rate Height (H): 76 cm (−2.75 SDS). Initial physical examination: mild dysmorphic features and prepubertal external genitalia (two scrotal testes, 1 cc volume each). Neurologic maturation was normal. Initial bo...

Background: Aromatase deficiency is a rare autosomal recessive disorder produced by CYP19 gene mutations. 46XX affected patients presented with ambiguous genitalia leading to early identification. Most 46XY affected patients presented normal external genitalia and the condition often remains undiagnosed until late puberty. Information on pubertal development in affected boys is scarce since to the present date only two patients, younger than 4 years of age, without lo...

Background: During the 1st months of postnatal life serum luteinizing hormone (LH) levels in girls are lower than in boys. The mechanism of this sex difference is not known. It has been proposed that foetal or perinatal androgenic steroids have an effect on the control of LH secretion.Objective and hypotheses: To study the possible influence of high levels of androgens on serum gonadotropins during the 1st months of life in a cohort of nine 46,XX testicu...

Background: Congenital growth hormone deficiency may be isolated (IGHD) or multiple pituitary hormone deficiency (MPHD). The Sonic Hedgehog signalling (SHH) pathway has an important role in the pituitary development and growth, acting early in ventral forebrain. The SHH signalling mediates its effects through three zinc fingers proteins (Gli1, Gli2 and Gli3), which lead to activation or repression of target genes. Several heterozygous GLI2 mutations have been reported in patie...

Background: In children, papillary thyroid cancer (PTC) is generally sporadic and may, less frequently, be part of an undiagnosed hereditary tumor predisposition syndrome (HTPS). Somatic molecular testing is useful to understand tumor etiology and behavior, predict prognosis, and possibly guide development of novel treatment strategies. RET/PTC fusions were found to be associated with an increased risk of invasive disease. The aims of our study were to analyze...

Objectives: The homozygous GHR pseudoexon (6ψ) mutation leads to aberrant splicing of the GHR gene with clinical and biochemical heterogeneity. We investigated whether the phenotypic variability could be explained by transcript heterogeneity i.e. ratio of abnormal (6ψ GHR) to normal (WT GHR) transcripts and/or the presence of concurrent defects in other short stature (SS) genes.Methods: 6&#968...

Background: Although growth hormone (GH) and the GH releasing hormone receptor (GHRHR) are known as etiologic factors in non-syndromic isolated growth hormone deficiency (IGHD), very few mutations have been identified in this rare condition (accounting for only 6–12.5% and 0–6.7% of IGHD cases depending on studies). The functional consequences of the identified variants have rarely been assessed.Objective and hypotheses: To assess the contribut...

Background and Aim: Vertebral fractures (VF) in children with acute lymphoblastic leukemia (ALL) are often symptomatic and impairing life quality. Prevalence of children with VF at ALL diagnosis has been reported as 16% with peak incidence occurring during the first year after diagnosis and a 6-year cumulative incidence of 32.5%. Moreover, only 15.8% of these patients will have vertebral reshaping 24 months after ALL diagnosis. Additionally, 23% of ALL survivo...