A 26 year old married woman presents with infertility and amenorrhoea. She has a normal satisfying sexual life. On work up she was found to be normal 46XX, no oestrogen or progesterone nor evidence of androgens. She has poorly developed breasts. HSG is normal. The following are possible causes: a) Testicular feminization syndrome b) Mullerian dysgenesis c) Gonadal dysgenesis d) B and C above e) All the above
Question
A 26 year old married woman presents with infertility and amenorrhoea. She has a normal satisfying sexual life. On work up she was found to be normal 46XX, no oestrogen or progesterone nor evidence of androgens. She has poorly developed breasts. HSG is normal. The following are possible causes: a) Testicular feminization syndrome b) Mullerian dysgenesis c) Gonadal dysgenesis d) B and C above e) All the above
Solution
The correct answer is d) B and C above.
Here's why:
a) Testicular feminization syndrome: This is a condition where a person is genetically male (46XY) but has resistance to male hormones, leading to the development of physical traits that are typical of a female. However, in the question, the woman is genetically female (46XX), so this condition can be ruled out.
b) Mullerian dysgenesis: This is a condition where the mullerian ducts fail to develop properly, leading to abnormalities in the structure of the female reproductive system. This could potentially explain the woman's infertility and amenorrhoea.
c) Gonadal dysgenesis: This is a condition where the ovaries fail to develop properly. This could also potentially explain the woman's infertility and amenorrhoea, as well as her lack of oestrogen and progesterone and underdeveloped breasts.
Therefore, both Mullerian dysgenesis and Gonadal dysgenesis could potentially explain the woman's symptoms, making option d) the correct answer.
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