Familiar inheritance of X-linked Congenital Adrenal Hypoplasia: even genetic counseling may sometimes fail!
| Autor: | Laura Cannavò, Simona Santucci, Malgorzata Wasniewska, Filippo De Luca |
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| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: | |
| Zdroj: | Atti della Accademia Peloritana dei Pericolanti - Classe di Scienze Medico-Biologiche, Vol 105, Iss 1 (2017) |
| Druh dokumentu: | article |
| ISSN: | 0365-0294 1828-6550 |
| DOI: | 10.6092/1828-6550/APMB.105.1.2017.A5 |
| Popis: | 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 |
| Databáze: | Directory of Open Access Journals |
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