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?
Correct Answer: 21 alpha hydroxylase
Description: 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
Category:
Gynaecology & Obstetrics
Get More
Subject Mock Tests
Practice with over 200,000 questions from various medical subjects and improve your knowledge.
Attempt a mock test nowMock Exam
Take an exam with 100 random questions selected from all subjects to test your knowledge.
Coming SoonGet More
Subject Mock Tests
Try practicing mock tests with over 200,000 questions from various medical subjects.
Attempt a mock test now