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OBG · Gynaecological endocrinology: androgen insensitivity
Sample itemA phenotypic girl presents with primary amenorrhoea, well-developed breasts, scanty pubic and axillary hair, a short blind vagina and inguinal swellings. Which karyotype and plan are expected?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
B. 46,XY; gonadectomy after puberty
Complete androgen insensitivity syndrome is an X-linked defect of the androgen receptor. Testes produce anti-Mullerian hormone, so there is no uterus. The testes are removed after puberty because of malignancy risk (gonadoblastoma), followed by oestrogen replacement.
Option by option
A. 45,X; oestrogen therapy
45,X is Turner syndrome.
B. 46,XY; gonadectomy after puberty (correct)
Correct. 46,XY with testes needs gonadectomy after pubertal development.
C. 47,XXX; observation
47,XXX does not cause this phenotype.
D. 46,XX; hysterectomy
A 46,XX karyotype would have a uterus.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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