title: A novel DAX1 gene mutation in a Turkish infant with X-linked adrenal hypoplasia congenita.
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.
authors.affiliation: Department of Neonatology, Izmir Tepecik Training and Research Hospital, Izmir, Turkey. eozer@deu.edu.tr
authors.forename: Esra Arun
authors.initials: EA
authors.lastname: Ozer
authors.forename: Aysun
authors.initials: A
authors.lastname: Kaya
authors.forename: Munevver
authors.initials: M
authors.lastname: Yildirimer
authors.forename: Ozlem
authors.initials: O
authors.lastname: Guler
authors.forename: Sule
authors.initials: S
authors.lastname: Can
authors.forename: Halil
authors.initials: H
authors.lastname: Aydinlioglu
mesh_terms: D000309:Adrenal Insufficiency / Q000151:congenital* / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D001483:Base Sequence; D018388:Codon, Terminator; D057137:DAX-1 Orphan Nuclear Receptor; D004268:DNA-Binding Proteins / Q000235:genetics*; D005438:Fludrocortisone / Q000627:therapeutic use; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006728:Hormones / Q000627:therapeutic use; D006801:Humans; D006854:Hydrocortisone / Q000627:therapeutic use; D007006:Hypogonadism / Q000235:genetics; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D010375:Pedigree; D018168:Receptors, Retinoic Acid / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: D018388:Codon, Terminator; D057137:DAX-1 Orphan Nuclear Receptor; D004268:DNA-Binding Proteins; D006728:Hormones; C539965:NR0B1 protein, human; D018168:Receptors, Retinoic Acid; D012097:Repressor Proteins; D005438:Fludrocortisone; D006854:Hydrocortisone