Congenital Lipoid Adrenal Hyperplasia, as a Poorly Understood Cause of 46 XY Sexual Differentiation Disorder.
Raúl Villanueva RodríguezAlberto Vielma ValdezMaricruz Cassou MartinezLaura Leticia Pérez CorralesRamón G de Los Santos AguilarLuis David Sol OlivaPublished in: Case reports in endocrinology (2024)
Mutations in StAR result in a nonfunctional protein, which clinically translates into congenital adrenal hyperplasia and, in the case of patients with 46 XY karyotype, is accompanied by gonadal dysgenesis characterized by androgen deficiency, without alterations in anti-Müllerian hormone.