X-linked congenital adrenal hypoplasia associated with hypospadias in an Egyptian baby: a case report.

ABSTRACT:

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Introduction

X-linked congenital adrenal hypoplasia is a rare developmental disorder of the human adrenal cortex and is caused by deletion or mutation of the dosage-sensitive sex reversal adrenal hypoplasia congenita critical region of the X chromosome, gene 1 (DAX-1) gene. Most affected children present with failure to thrive, salt wasting and hypoglycemic convulsions in the first months of life. Hypospadias affects approximately one in 250 live male births. Mutations in the mastermind-like domain-containing 1 (MAMLD1) gene have been implicated as one of the causes of hypospadias in children. To the best of our knowledge, an association between congenital adrenal hypoplasia due to a DAX-1 mutation and hypospadias due to mutation of the MAMLD1 gene has not previo

SUBMITTER: Metwalley KA 

PROVIDER: S-EPMC3537693 | biostudies-literature | 2012 Dec

REPOSITORIES: biostudies-literature