title: [Gene as a cause of adrenal hypoplasia, hypogonadism and short height novel mutation of DAX-1 gene (pGly168fsX17)].
abstract: Various genes play a role in the morphogenesis of the adrenal cortex, among them the DAX-1 gene. We report an 18-year-old man who showed complete adrenal failure in the neonatal period, hypogonadotropic hypogonadism and pathological short stature associated with a mutation of the DAX-1 gene that has not previously been described. The patient was admitted to hospital at the age of 16 days due to salt-losing syndrome with hyperpotassemia. After this episode, he received no treatment for 2 years, when he began to show progressive anorexia, salt avidity, asthenia, cutaneous hyperpigmentation and finally shock, with hypoglycemia, hyponatremia, metabolic acidosis and hyperpotassemia. Puberal development was spontaneous but incomplete. The patient received treatment with testosterone-depot. He reached a definitive testicular volume of 6 ml and pubarche V. His final height is 150 cm (target height 164 cm). Amplification of the DAX-1 gene showed mutation g 2080-2081 insertion in the first position of codon 168, which produces a premature shutdown of protein DAX-1 at position 184.
authors.affiliation: Departamento de Pediatría, Hospital Clinico San Carlos, Prof. Martín Lagos s/n, 28040 Madrid, Spain. olgaperezrodriguez@yahoo.es
authors.forename: O
authors.initials: O
authors.lastname: Pérez Rodríguez
authors.forename: J L
authors.initials: JL
authors.lastname: Ruibal Francisco
authors.forename: L
authors.initials: L
authors.lastname: Loidi Fernández de Trocóniz
authors.forename: S
authors.initials: S
authors.lastname: Parajes Castro
authors.forename: P
authors.initials: P
authors.lastname: Martín Rojas-Marcos
mesh_terms: D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics*; D001827:Body Height / Q000235:genetics; D057137:DAX-1 Orphan Nuclear Receptor; D004268:DNA-Binding Proteins / Q000235:genetics*; D006801:Humans; D007006:Hypogonadism / Q000235:genetics*; D008297:Male; D009154:Mutation; D018168:Receptors, Retinoic Acid / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*
chemical_list: D057137:DAX-1 Orphan Nuclear Receptor; D004268:DNA-Binding Proteins; C539965:NR0B1 protein, human; D018168:Receptors, Retinoic Acid; D012097:Repressor Proteins