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A report of congenital adrenal hyperplasia due to 17α-hydroxylase deficiency in two 46, XX sisters

Abstract:

Congenital adrenal hyperplasia (CAH) is a group of rare orphan disorders caused by mutations in seven different enzymes that impair cortisol biosynthesis. The 17α-hydroxylase deficiency (17OHD) is one of the less common forms of CAH, corresponding to approximately 1% of the cases, with an estimated annual incidence of 1 in 50,000 newborns. Cases description – two phenotypically female Ecuadorian sisters, both with primary amenorrhea, absence of secondary sexual characteristics, and osteoporosis. High blood pressure was present in the older sister. Hypergonadotropic hypogonadism profile was observed: decreased cortisol and dehydroepiandrosterone sulfate (DHEAS), increased adrenocorticotropic hormone (ACTH) and normal levels of 17-hydroxyprogesterone, extremely high deoxycorticosterone (DOC) levels, and a tomography showed bilateral adrenal hyperplasia in both sisters. Consanguinity …

Año de publicación:

2020

Keywords:

    Fuente:

    googlegoogle

    Tipo de documento:

    Other

    Estado:

    Acceso abierto

    Áreas de conocimiento:

    • Medicina interna

    Áreas temáticas:

    • Enfermedades
    • Fisiología humana
    • Ginecología, obstetricia, pediatría, geriatría

    Contribuidores:

    Diego GomezDiego Gomez