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European Journal of Pediatrics

Erschienen in:

01.03.2009 | Short Report

A novel DAX1 gene mutation in a Turkish infant with X-linked adrenal hypoplasia congenita

verfasst von: Esra Arun Ozer, Aysun Kaya, Munevver Yildirimer, Ozlem Guler, Sule Can, Halil Aydinlioglu

Erschienen in: European Journal of Pediatrics | Ausgabe 3/2009

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Abstract

Adrenal hypoplasia congenita (AHC) is a rare inherited disorder of the adrenal cortex commonly manifested as an early onset adrenal insufficiency syndrome. A novel DAX1 (NR0B1) gene mutation was detected in a Turkish newborn boy presenting with primary adrenal insufficiency. He was from a family with a history of unexplained death of three male siblings in the neonatal period. This report highlights the value of mutational analysis of the DAX1 gene for definitive diagnosis of AHC as well as for genetic counselling because this disorder shows an X-linked genetic pattern of transmission, providing the possibility of finding new cases even in presymptomatic individuals.

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Titel: A novel DAX1 gene mutation in a Turkish infant with X-linked adrenal hypoplasia congenita
verfasst von: Esra Arun Ozer
Aysun Kaya
Munevver Yildirimer
Ozlem Guler
Sule Can
Halil Aydinlioglu
Publikationsdatum: 01.03.2009
Verlag: Springer-Verlag
Erschienen in: European Journal of Pediatrics / Ausgabe 3/2009
Print ISSN: 0340-6199
Elektronische ISSN: 1432-1076
DOI: https://doi.org/10.1007/s00431-008-0778-y

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