Citation Information :
Alwani M, Nimbalkar P, Halvadia H, Kadikar B, Kaku YD. A Rare Case Report of Congenital Adrenal Hyperplasia: 46XX at Tertiary Care Centre, Visnagar, North Gujarat.. 2024; 1 (1):41-46.
This report presents a rare case of pure classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency in a 22-year-old woman with a 46 XX genotype. The patient exhibited virilism, excessive hair growth, and primary amenorrhea with absent secondary sexual characteristics. The diagnosis was confirmed by 17-hydroxyprogesterone testing and the Synacthen test. Treatment with hydrocortisone and spironolactone was followed by feminization surgery, leading to the development of secondary sexual characteristics, including breast development, a reduction in hirsutism, and the onset of regular menstruation.
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