Lethargic, hypoglycemic female neonate with scrotum-like labia majora is suggestive of-
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
Congenital adrenal hyperplasia
Turner's syndrome
Klinefelter's syndrome
Ovo-testicular disorder of sexual development
Intersex