Q:

What is the probable diagnosis in her case?

waelhammad
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2022-11-19
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A girl is brought at the age of 17 years with complaints of primary amenorrhea. She is born at full term with no perinatal complications and her motor and sensory milestones are normal. She is 165 cm in height and her predicted height is 155 cm. On examination she has B3 staging of breast with absence of axillary and pubic hairs. Her serum E2 level is low and her FSH and LH are high. Her serum testosterone is 1000 ng/mL and her USG pelvis does not show any uterus or ovaries. She has a blind vaginal pouch on vaginal examination by the gynecologist.

What is the probable diagnosis in her case?

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waelhammad
2022-11-19
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In view of the high serum testosterone with a female phenotype with poorly developed secondary sexual characteristics a diagnosis of complete androgen sensitivity syndrome is made and a karyotyping is done.

The karyotype shows XY and so the diagnosis of complete androgen insensitivity is confirmed

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