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Gynaecology & Obstetrics Intersex 5892093f

Lethargic, hypoglycemic female neonate with scrotum-like labia majora is suggestive of-

A
Congenital adrenal hyperplasia
B
Turner's syndrome
C
Klinefelter's syndrome
D
Ovo-testicular disorder of sexual development
High-Yield Explanation
Above history point towards diagnosis of Congenital adrenal hyperplasia: - Due to deficiency of enzyme 21-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

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