Androgen insensitivity syndrome – case report
S. Khollová 1; E. Hrdonková 1; R. Pomahačová 2
Authors‘ workplace: Gynekologicko-porodnická klinika LF UK a FN, Plzeň, přednosta doc. MUDr. Z. Novotný, CSc. 1; Dětská klinika LF UK a FN, Plzeň, přednosta prof. MUDr. J. Kobr, Ph. D. 2
Published in: Ceska Gynekol 2014; 79(1): 38-42
Presentation of a familiar incidence of complete androgen insensitivity syndrome.
Case report with literature review.
Department of Gynecology and Obstetrics, Department of Pediatrics, Medical Faculty and University Hospital in Pilsen, Charles University in Prague.
Androgen insensitivity syndrome is the most common male-hermaphroditism. Affected individuals have a male karyotype, but owing to the unresponsiveness of the cells to androgens a disruption in sexual development occurs. Clinical picture of the syndrome is very variable.
Our case-report deals with a familiar incidence of complete androgen insensitivity syndrome, formerly incorrectly called “testicular feminization syndrome“. The karyotype of these individuals is 46, XY. They have female external genitalia, male gonads, the uterus and fallopian tubes are missing and vagina is shorter.
In this case, the complete androgen insensitivity syndrome was diagnosed in two sisters in childhood as a part of reduced growth investigation. The same syndrome was also detected in their mother’s sister. Both girls already underwent laparoscopic gonadectomy. The older one started at the age of 11 with estrogen replacement therapy.
androgen insensitivity syndrome – testicular feminization syndrome – androgen receptors – masculinization – Müllerian inhibiting factor – gonadectomy
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LabelsPaediatric gynaecology Gynaecology and obstetrics Reproduction medicine
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