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Updated: May 17, 2026

A Hyperandrogenic Mouse Model to Study Polycystic Ovary Syndrome
Published on: October 2, 2018
[Complete androgen insensitivity syndrome in 16-year-old girl with female phenotype]
Jerzy Starzyk1, Aleksandra Górska, Dominika Januś
1Klinika Endokrynologii Dzieci i Młodziezy Katedry Pediatrii Collegium Medicum UJ w Krakowie, Kraków. mistarzy@cyf-kr.edu.pl
Abstract:
We present a case of a 16-year-old girl who attended Endocrinology Clinic in Kraków. Her main complains were amenorrhea and lack of pubic and axillary hair development. Breast development was normal. Based on those features, male karyotype (46, XY) as well as high levels of blood testosterone and lack of uterus on ultrasound examination allowed for establishing the diagnosis of complete androgen insensitivity syndrome. The authors emphasize the possibility of diagnosing severe disorders of sex differentiation, such as sex reversal, not earlier than in teenage patients with delayed puberty. In such cases the diagnosis can be established based on physical examination with evaluation of sexual development, basic blood hormonal tests and karyotype results. Reliable knowledge of male sex differentiation physiology is needed for their correct interpretation.
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