Rare Coexistence of Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency and Turner Syndrome: A Case Report and Brief Literature Review

• Main Authors: Isabel Inácio (Author), Joana Serra-Caetano (Author), Rita Cardoso (Author), Isabel Dinis (Author), Alice Mirante (Author)
• Format: Book
• Published: Galenos Yayincilik, 2023-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

The coexistence of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency and Turner syndrome (TS) is rare. We report on a 6-year-old Portuguese girl with mosaic TS [45,XO(39)/47,XXX(21)] presenting with premature pubarche at the age of 5 years. Laboratory findings showed elevated 17-...