Normal minipuberty in a patient with DAX-1 mutation: additional evidence of a differential role for DAX-1 during development?

Classically, mutations in the DAX-1 gene cause an adrenal hypoplasia congenita associated with adrenal insufficiency and hypogonadotrophic hypogonadism. However, mini-puberty onset seems to be normal in those patients suggesting a normal function of the pituitary-gonadal axis during the perinatal period.