13 yr old child visit OPD with complains of not attaining menarche with karyotype 46 XX. O/E there is clitromegaly, which enzyme is likely deficient?
Above history point towards diagnosis of Congenital adrenal hyperplasia: - Due to deficiency of enzyme21-alpha Hydroxylase There is lack of coisol production resulting in excess of Adrenocoicotropic hormone (ACTH) production from pituitary. Features: - Enlarged clitoris Presence of penile urethra or hypospadias Associated metabolic abnormality -Salt wasting (hyponatremia, hyperkalemia) Fusion of Labia majora Lethargic hypoglycemic females. Investigations: - Karyotype is 46 XX Serum estimation Sex chromatin study reveals positive Barr body Sonographic evaluation
17 alpha hydroxylase
21 alpha hydroxylase
11 alpha hydroxylase
3 beta hydroxyteroid dehydrogenase
NEET Jan 2020