A 21 year old woman presents with complaints of primary amenorrhoea. Her height is 153 cms, weight is 51 kg. She has well developed breasts. She has no pubic or axillary hair and no hirsuitism. Which of the following is the most probable diagnosis?
Answer is D (Complete androgen insensitivity syndrome) The patient in question presents as a 21 year old women (truly feminine appearance) with well-developed breasts, no hiruitism, no pubic or axillary hair with primary amenorrhea. All features thus mentioned lead to a diagnosis of complete androgen insensitivity. Complete androgen insensitivity syndrome : syn: complete testicular feminization: (Common form of male pseudohermaphroditism) A 46 XY karyotypic male presents with a truly feminine appearance with complaints of primary amenorrhea (third most common cause of primary amenorrhea after gonadal dysgenesis and congenital absence of vagina) Mature breast development Habitus and distribution of body fat are female in character Scalp hair is that of normal women and facial hair is absent (no hiruitism) External genitalia is unambiguously female and clitoris is normal Internal genitalia : All internal genitalia are absent except testes that contain normal leydig cells and seminiferous tubules but without spermatogenesis. Also remember: The testes may be located in the abdomen, along the course of inguinal canal or in the labia majora (undescended testes)Q The major complication of undescended testes in this disorder is the development of tumors. Syndrome :Gonadal dysgenesis A phenotypic female presents with primary amenorrhea. Pubic and axillary hair remain sparse and breasts are infantile (patient in question has mature breasts) Stein Leventhal syndrome: Polycystic ovarian disease: Harrison 15th / 2163 This is characterized by Hirsuitism (patient in question has no hiruitism) along with amenorrhea / oligomenorrhea, obesity and infeility. Premature ovarian failure: Presents with secondary amenorrhea and not primary amenorrhea.
Turner's syndrome
Stein-Leventhal syndrome
Premature ovarian failure
Complete androgen insensitivity syndrome