Minipuberty of infancy and adolescent pubertal function in adrenal hypoplasia congenita.
case_report · Level V
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- Record sourced from PubMed, PMID 9709728.
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Abstract
An infant and his uncle, both with adrenal hypoplasia congenita, shared the same DAX1 mutation. The adolescent uncle had hypogonadotropic hypogonadism, but the infant had a normal minipuberty of infancy. These observations suggest differences in the physiologic mechanisms regulating the hypothalamic-pituitary-gonadal axis in infancy and adolescence.
Medical subject headings
- Adrenal Insufficiency
- Hypogonadism
- Puberty
- Repressor Proteins