title: Active hypothalamic-pituitary-gonadal axis in an infant with X-linked adrenal hypoplasia congenita.
abstract: To evaluate the hypothalamic-pituitary-gonadal axis in an infant with adrenal hypoplasia congenita, we measured the serum levels of testosterone and performed a luteinizing hormone-releasing hormone stimulation test. The diagnosis was made because of the presence of a mutation, A300V, in the DAX-1 gene. The results demonstrated an active hypothalamic-pituitary-gonadal axis, with adult-level testosterone of 266 ng/dl on day 0, and maintenance of testosterone concentration in the 100 to 250 ng/dl range for 140 days as expected. The luteinizing hormone-releasing hormone lest was compatible with an active pituitary gland with a luteinizing hormone peak of 13.1 IU/L and a follicle-stimulating hormone of 5.0 IU/L We conclude that the DAX-1 mutation does allow a normal reproductive axis at birth. We speculate that sometime between infancy and puberty this mutation in the DAX-1 gene leads to an inability to activate the reproductive axis from its childhood suppression; thus puberty will not develop in this infant.
authors.affiliation: Department of Pediatrics, Akita University School of Medicine, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Takahashi
authors.forename: Y
authors.initials: Y
authors.lastname: Shoji
authors.forename: Y
authors.initials: Y
authors.lastname: Shoji
authors.forename: N
authors.initials: N
authors.lastname: Haraguchi
authors.forename: I
authors.initials: I
authors.lastname: Takahashi
authors.forename: G
authors.initials: G
authors.lastname: Takada
mesh_terms: D000309:Adrenal Insufficiency / Q000151:congenital* / Q000235:genetics* / Q000503:physiopathology; D005640:Follicle Stimulating Hormone / Q000097:blood; D008040:Genetic Linkage; D007987:Gonadotropin-Releasing Hormone; D006801:Humans; D007006:Hypogonadism / Q000235:genetics* / Q000503:physiopathology*; D007030:Hypothalamo-Hypophyseal System / Q000503:physiopathology*; D007231:Infant, Newborn; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D009154:Mutation; D013739:Testosterone / Q000097:blood; D014960:X Chromosome
chemical_list: D007987:Gonadotropin-Releasing Hormone; D013739:Testosterone; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone