Active hypothalamic-pituitary-gonadal axis in an infant with X-linked adrenal hypoplasia congenita.
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Takahashi T, Shoji Y, Shoji Y, Haraguchi N, Takahashi I, Takada G
Active hypothalamic-pituitary-gonadal axis in an infant with X-linked adrenal hypoplasia congenita.
J Pediatr. 1997 Mar;130(3):485-8.
- PubMed ID
- 9063431 [ View in PubMed]
- 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.