A 16-year old girl was brought with primary amenorrhea. Her mother mentioned that she staed developing breast at the age of 12. She was prescribed OCPs 2 years back by a doctor with no effect. She was having normal stature and was a football player. On examination, breasts were well developed (Tanner's stage 5) and pubic hair was minimal (Tanner's stage 1). What is the most probable diagnosis?

Explanation

Ans: D. Androgen insensitivity(Ref: Shawl 16/e p141, 15/e p111-112; Novaks 14/1037-1038; Dutta Gvnae 6/e p424)Most likely diagnosis here is androgen insensitivity syndrome.Androgen Insensitivity Syndrome:Also referred as "Testicular feminization".An X-linked recessive condition.Results in failure of normal masculinization of external genitalia in chromosomally male individuals.Testes produce normal amounts of mullerian-inhibiting factor (MIF), also known as mullerian-inhibiting substance (MIS) or anti-mullerian hormone/factor (AMH/AMF),Features:Absence of fallopian tubes, a uterus, or proximal (upper) vagina.Identified in newborn period - By presence of inguinal masses & later identified as testes during surgery.Sometimes diagnosed in teenage years during primary amenorrhea evaluation.Absence of pubic & axillary hair in adolescent patients.Scanty body hair & lack of acne.Yet normal breast - Due to testosterone to estradiol conversion.