Normal erkek fenotipe sahip 45, X/46, XY kromozomal mosaizm ve azoospermisi olan infertil hasta

Öz

Erkek faktör infertilite, tüm infertil çiftlerin yaklaşık olarak %30’unu oluşturmaktadır.

 Bu çalışmada erkek faktör infertilitenin nadir bir sebebi olan 45,X0/46,XY  mozaik karyotip yapısına sahip azospermisi olan olguyu sunmayı amaçladık.

Hastanın, fenotipik olarak, skrotum, testis volümü, penisi ve sekonder seks karakterleri normal bir erkek görünümündeydi. Hastaya mikrodiseksiyon yöntemiyle testiküler sperm ekstraksiyonu yapıldı, fakat her iki testistede spermatozoa tespit edilemedi.

İnfertilitenin etiyolojisi değerlendirilirken, azospermisi olan erkeklerde fenotip normal olsa dahi karyotip anormallikleri göz önünde bulundurulmalıdır. 

Anahtar Kelimeler

• azoospermia
• mozaisim
• Turner

An infertile patient who had normal male phenotype with 45,X/46,XY chromosomal mosaicism and azoospermia

Öz

The male factor infertility account for approximately 30% of all infertile couples. In this study we aimed to present a rare cause of male factor infertility, a case with 45, X0/46, XY mosaic karyotype and azoospermia. The patient phenotypically appeared as a normal male with normal scrotum, testis volume, penis and secondary sex characteristics. Testicular sperm extraction with microdissection was applied to the patient but no spermatozoa was detected in both of testicles.

Karyotype anomalies should always be considered  during the evaluation of the infertility associated with azoospermia even when the patient is phenotypically normal.

Anahtar Kelimeler

• azoospermia
• mozaisim
• turner

Kaynakça

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