IMPE Abstracts

Introduction: Congenital Adrenal Hyperplasia (CAH) is a group of autosomal recessive disorders. Defects in the 21-hydroxylase (21OH) enzyme make up 90% of CAH. These defects result in androgen excess in salt-wasting or simple virilizing forms. As androgens play a role in human psychosexual development, this study was designed to evaluate the impact of androgens on the psychosexuality of individuals with CAH due to 21OH deficiency.<strong...

Introduction: The genetic factors are frequently implicated in the growth impairment of short stature (SS) children, whether they are syndromic or apparently healthy. However, the investigation recommended by the consensus fails to establish the etiology in most cases. The difficulty to search for candidate genes increases the importance of using a hypothesis-free approach as whole exome sequencing (WES) for these children. Objective: To determine the diagnost...

Introduction: This study aimed to evaluate and compare the trabecular bone scores (TBSs) of 35 patients (11 children and 24 adults) with X-linked hypophosphatemic rickets (XLH) confirmed by PHEX mutations and non-XLH subjects from a tertiary center.Materials and Methods: The areal bone mineral density at the lumbar spine (LS-aBMD) and LS-aBMD Z score were analyzed by dual-energy X-ray absorptiometry (DXA). The bone miner...

Background: Translocations involving the X and Y chromosome are rare in humans. Here we describe two cases diagnosed during the investigation of short stature. Case 1: She was born at 38 gestational weeks (GW), with birth weight (BW) SDS -1.5 and birth length (BL) SDS -2.7. At the first assessment, she had a chronological age (CA) of 11.3ys, a height SDS of -2.2, a sitting height-to-height SDS of 4.6, and Madelung´s deformity. The height SDS of her mothe...

Introduction: Children classified as idiopathic short stature (ISS) may have a monogenic cause that can explain their growth disorder. In this context, genetic tests emerge as a new diagnostic tool. Objectives: To determine the usefulness of WES for the genetic investigation of children with ISS.Patients and Methods: We sequentially enrolled 95 children with ISS without previous genetic testing, except for karyotyping fo...