A patient with genotype 46 XY diagnosed of having androgen insensitivity syndrome. TRUE about androgen insensitivity syndrome is:
Correct Answer: Phenotype may be completely female
Description: These patients have a male karyotype with a mutation of the androgen receptor on the X chromosome. They have normal testicular development and endocrine function. However, because the internal and external male sexual structures need testosterone for development, they are absent. This results in a female phenotype. Secondary sexual characteristics (female) develop as a result of peripheral conversion of testosterone to estradiol, effectively resulting in unopposed estrogen stimulation. Ref: Rosen M.P., Cedars M.I. (2011). Chapter 13. Female Reproductive Endocrinology and Infeility. In D.G. Gardner, D. Shoback (Eds), Greenspan's Basic & Clinical Endocrinology, 9e.
Category:
Gynaecology & Obstetrics
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