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

• Published in: European journal of pediatrics Vol. 168; no. 3; pp. 367 - 369
• Main Authors: Ozer, Esra Arun, Kaya, Aysun, Yildirimer, Munevver, Guler, Ozlem, Can, Sule, Aydinlioglu, Halil
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer-Verlag 01.03.2009; Springer; Springer Nature B.V
• Subjects: Adrenal Insufficiency - congenital; Adrenal Insufficiency - diagnosis; Adrenal Insufficiency - drug therapy; Adrenal Insufficiency - genetics; Base Sequence; Biological and medical sciences; Codon, Terminator; DAX-1 Orphan Nuclear Receptor; DNA-Binding Proteins - genetics; Fludrocortisone - therapeutic use; General aspects; Genetic Diseases, X-Linked - diagnosis; Genetic Diseases, X-Linked - drug therapy; Genetic Diseases, X-Linked - genetics; Genetic Predisposition to Disease; Heterozygote; Hormones - therapeutic use; Humans; Hydrocortisone - therapeutic use; Hypogonadism - genetics; Infant, Newborn; Male; Medical sciences; Medicine; Medicine & Public Health; Mutation; Pediatrics; Pedigree; Receptors, Retinoic Acid - genetics; Repressor Proteins - genetics; Sequence Deletion; Short Report; Asia; Turkey; Adrenal hypoplasia congenita; DAX1; Children; Human; Hypoplasia; Sex linked character; Pediatrics; Adrenal glands; Infant; DAX1·NR0B1; Congenital disease; Gene; Malformation; Genetics; X-Chromosome; Mutation; Child
• ISSN: 0340-6199; 1432-1076
• DOI: 10.1007/s00431-008-0778-y

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.