A 19-year-old woman presents to the clinic for evaluation of primary amenorrhea. Her physical examination is normal, and she has female sex characteristics and breast development. The only abnormality is the absence of body hair. Among other investigations she also has genetic testing that reveals an XY chromosome pattern. Which of the following mechanisms is most likely to explain her phenotypic pattern and amenorrhea?
Androgen receptor defect such as androgen insensitivity will result in the phenotypic characteristics seen in this patient. Other disease states due to abnormal intracellular receptors include cortisol resistance; vitamin D-dependent rickets, type II; thyroid hormone resistance; and pseudo-hypoaldosteronism. Androgen insensitivity syndrome is caused by a mutation in the androgen receptor, and it affects 1 in 100,000 chromosomal males. Because the androgen receptor is X-linked, it only affects males. The phenotypic presentation can vary from complete androgen insensitivity (female external features) to partial insensitivity causing ambiguous or normal male features and infertility. There are several different types of cell membrane receptors.
estrogen receptor defect
excess hormone production
androgen receptor defect
decreased hormone production
Endocrinology