AI Summary & Key Takeaways
AI InsightThe Karyotype was 46 XY after genetic investigation.
📌 3 Key Takeaways
Abstract
We report a 20 year old case of partial androgen insensitivity syndrome, referred to our clinic with complaints concerning external genital organs and left undescended testicle. The phenotypically male case was first evaluated for secondary sex development. Axillary hair was scanty and no pubic hair was found. There was no breast development. In the gynecological examination, the clitoris was hypertrophic (4.6 cm) and a blind vagina with intact hymen was seen. Abdominopelvic ultrasonography revealed the absence of an uterus and adnexes which was supported by magnetic resonance imaging (MRI). There was a palpable mass in the left inguinal canal (cryptorchism), seen as atrophic tissue under the skin in MRI. Although the other testis was in the labioscrotal fold, it was atrophic. The Karyotype was 46 XY after genetic investigation.
Özet
Yirmi yaşında erkek fenotipli hasta, polikliniğimize dış genital organlardaki farklılık ve sol inguinal bölgede ele gelen kitle şikayetiyle başvurdu. Olgu ilk olarak sekonder sex karekterleri açısından değerlendirildi. Pubik kıllanma olmamasına karşın seyrek aksiller kıllanma mevcuttu. Meme gelişimi yoktu. Jinekolojik muayenede hipertrofik klitoris (4.6 cm), intakt hymen ve kör vajen saptandı. Abdominopelvik ultrasonda uterus ve adneksler izlenmedi. Bunun üzerine hastaya MR çekildi ve sol inguinal bölgede kriptorşizm ile uyumlu testiküler doku cilt altında atrofik olarak izlendi. Diğer testis ise labioskrotal foldun içinde olup, atrofikti. Genetik inceleme yapıldı, karyotip 46 XY olarak saptandı.