Active hypothalamic-pituitary-gonadal axis in an infant with X-linked adrenal hypoplasia congenita.
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.
Takahashi
T
T
Department of Pediatrics, Akita University School of Medicine, Japan.
Shoji
Y
Y
Shoji
Y
Y
Haraguchi
N
N
Takahashi
I
I
Takada
G
G
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
D007987:Gonadotropin-Releasing Hormone; D013739:Testosterone; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone