A 15-year-old female presents with primary amenorrhea. Her breasts are Tanner 4 but she has no axillary or pubic hair. The most likely diagnosis is:
Ans. is c, i.e. Testicular feminization syndromeRef: Novak 14th/ed, p1037-1038When a female comes with complain of primary amenorrhea the first thing to do is see her secondary sexual characteristics:* In Turner's Syndrome all secondary sexual characteristics are absent where as in the question the female has proper breast development with absent axillary and pubic hair (therefore option 'a' ruled out).* In Mullerian agenesis - Patient presents with primary amenorrhea with well developed secondary sexual characteristics (both breast and pubic hair), i.e. option b ruled out.* In option d, i.e. premature ovarian failure - patient will have no secondary sexual characteristic be it breast or pubic hair, i.e. this option is also incorrect.* In testcular feminization syndrome - Genotype is 46 XY, i.e. they are males but with testosterone resistance. Male secondary sexual characteristics do not develop. This testosterone is converted to estrogen and thus these males have well developed breasts (Tanner stage 4 or 5) and since development of pubic and axillary hair is dependent on testosterone, these are not developed or under developed (Tanner stage 1 or 2)
Turner's syndrome
Mullerian agenesis
Testicular feminization syndrome
Premature ovarian failure
Sex Intersexuality