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Old 03-10-2011
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Question Female Pseudohermaphroditism, discussing the answer

This is an end chapter practice question in Kaplan pathology book. their answer is E. as you know, this book's end chapter tests have no explanations:

A 16 yo girl is brought to the physician by her mother because she has not yet begun the menstruate. She is concerned because all of her other friends "got their period years ago". She is not sexually active and denies excessive dieting or exercise. Physical exam reveals normal adult type breasts, a sparse amount of axillary and pubic hair, and a blind-ending vagina. A sonogram reveals that the uterus and ovaries are absent. She has male levels of testosterone.
Which of the following is the most likely cause of her condition?

1. androgen-producing tumor
2. congenital adrenal hyperplasia of the androgen receptor
3. maternal intake of androgen
4. meiotoc nondisjunction
5. mutation of the androgen receptor

Discussion,
considering choice E (complete male pseudohermaphroditism), would not the normal female appearance be a problem?
I mean, complete ones (total absence of the receptor) will have a female appearance?
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Old 03-10-2011
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Yes if the androgen receptor does not work then the "default" female secondary sexual characteristics will appear.
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Old 03-10-2011
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This is an XY individual. Since, Androgen did not work, the male sexual features did not develop and therefore they thought it's a female.
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Old 03-10-2011
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yes female apperance will be present .. this is due to that when there is a complete loss in receptor function testicular feminizing syndrome results.
the external structure are female that is because testosterone is needed to from dihydrotestosterone that is responsible in the fetus for external genitalia formation .. in this case as the receptors are lost so testosterone level will be elevated and yet not functioning so it ended up that the patient have external female structure but end with blind vagina
while there is no ovaries or uterus as there is the MIH (mullerian inhibiting factor) that causes disapperance of female internal structure as the fetus is gentically male XY
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Old 03-10-2011
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yes this is testicular feminization..due to testosterone receptor insensitivity..
note that child is raised as a female until puberty when amenorrhea leads to its diagnosis..
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Old 03-11-2011
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NOTE: Here are some other potential questions that you may see related to this presentation

1. What is the most likely pathologic complication of this disorder?
Recall that whenever the testes do not fully descend, there is a increased risk of germ cell tumors, especially seminomas

2. Where would the malignancy associated with this disorder most likely metastasize?
Para-aortic Lymph nodes (Gonadal arteries are derived from the aorta)

3. What will be the histological finding in the malignancy associated with this disorder?
Large cells with Lymphocytic Infiltrate

Reference: See page 104 of Goljan audio transcript
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Endocrine-, Pathology-, Reproductive-, Step-1-Questions

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