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Active hypothalamic-pituitary-gonadal axis in an infant with X-linked adrenal hypoplasia congenita
T Takahashi1, Y Shoji, Y Shoji
1Department of Pediatrics, Akita University School of Medicine, Japan.
Insights
A mutation in the DAX-1 gene allows a normal reproductive axis at birth in infants with adrenal hypoplasia congenita. However, this mutation may prevent puberty development later in life.
Area of Science:
- Endocrinology
- Genetics
- Pediatrics
Background:
- Adrenal hypoplasia congenita (AHC) is a rare genetic disorder.
- The DAX-1 gene plays a crucial role in adrenal and gonadal development.
Observation:
- An infant with AHC and a DAX-1 mutation (A300V) was studied.
- Serum testosterone levels and a gonadotropin-releasing hormone stimulation test were performed.
Findings:
- The infant exhibited an active hypothalamic-pituitary-gonadal axis at birth.
- Adult-level testosterone was maintained, and pituitary response was normal.
Implications:
- The DAX-1 mutation allows a functional reproductive axis in infancy.
- This mutation may impair reproductive axis activation at puberty, leading to hypogonadism.
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.