Familiar inheritance of X-linked Congenital Adrenal Hypoplasia: even genetic counseling may sometimes fail!

Abstract

Congenital Adrenal hypoplasia (CAH) is a rare genetic disorder which can present two distinct modalities of transmission: recessive X-linked or recessive autosomal modality. That linked to the X chromosome is generally associated with hypogonadotropic hypogonadism (HH). In this case, the gene responsible is DAX-1. We report the history of an infant 36-days old who was admitted to our clinic complaining of acute adrenal insufficiency (AAI), salt wasting and metabolic acidosis. He was the nephew of one of our patients with X-linked CAH. The main causes of early onset AAI were excluded and on the basis of family history we suspected diagnosis of X-linked CAH. Therefore, replacement therapy with gluco- and mineral-corticoids was started immediately. Molecular analyses confirmed the occurrence of DAX-1 gene mutation F449fsX461. His maternal uncle was already recognized to suffer from this disorder, while his mother, grandmother and maternal aunt carried the DAX-1 mutation in heterozygosis. This case report stress the role of genetic counseling in families with DAX-1 gene mutation

Keywords

• congenital adrenal hypoplasia
• acute adrenal insufficiency
• salt-wasting dehydration
• genetic counseling
• DAX-1 gene