A Rare Case Report of Congenital Adrenal Hyperplasia: 46XX at Tertiary Care Centre, Visnagar, North Gujarat
June 2024
TLDR A 22-year-old woman with a rare genetic condition was successfully treated to develop normal female characteristics and regular menstruation.
This case report details a rare instance of classical congenital adrenal hyperplasia (CAH) in a 22-year-old woman with a 46 XX genotype, caused by 21-hydroxylase deficiency. The patient presented with virilism, excessive hair growth, and primary amenorrhea, lacking secondary sexual characteristics. Diagnosis was confirmed through 17-hydroxyprogesterone and Synacthen tests. Treatment involved hydrocortisone and spironolactone, followed by feminization surgery, resulting in the development of secondary sexual characteristics, reduced hirsutism, and the onset of regular menstruation.
