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

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. 

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

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.

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Kaynak Göster

Bibtex @olgu sunumu { bmedj362469, journal = {Balıkesir Medical Journal}, issn = {}, eissn = {2564-6664}, address = {}, publisher = {Balıkesir Üniversitesi}, year = {2017}, volume = {1}, pages = {116 - 119}, doi = {}, title = {Normal erkek fenotipe sahip 45, X/46, XY kromozomal mosaizm ve azoospermisi olan infertil hasta}, key = {cite}, author = {Erdem, Erkan and Usta, Akın and Altun, Eren and Karacan, Meriç} }
APA Erdem, E , Usta, A , Altun, E , Karacan, M . (2017). Normal erkek fenotipe sahip 45, X/46, XY kromozomal mosaizm ve azoospermisi olan infertil hasta . Balıkesir Medical Journal , 1 (3) , 116-119 . Retrieved from https://dergipark.org.tr/tr/pub/bmedj/issue/33102/362469
MLA Erdem, E , Usta, A , Altun, E , Karacan, M . "Normal erkek fenotipe sahip 45, X/46, XY kromozomal mosaizm ve azoospermisi olan infertil hasta" . Balıkesir Medical Journal 1 (2017 ): 116-119 <https://dergipark.org.tr/tr/pub/bmedj/issue/33102/362469>
Chicago Erdem, E , Usta, A , Altun, E , Karacan, M . "Normal erkek fenotipe sahip 45, X/46, XY kromozomal mosaizm ve azoospermisi olan infertil hasta". Balıkesir Medical Journal 1 (2017 ): 116-119
RIS TY - JOUR T1 - Normal erkek fenotipe sahip 45, X/46, XY kromozomal mosaizm ve azoospermisi olan infertil hasta AU - Erkan Erdem , Akın Usta , Eren Altun , Meriç Karacan Y1 - 2017 PY - 2017 N1 - DO - T2 - Balıkesir Medical Journal JF - Journal JO - JOR SP - 116 EP - 119 VL - 1 IS - 3 SN - -2564-6664 M3 - UR - Y2 - 2017 ER -
EndNote %0 Balıkesir Medical Journal Normal erkek fenotipe sahip 45, X/46, XY kromozomal mosaizm ve azoospermisi olan infertil hasta %A Erkan Erdem , Akın Usta , Eren Altun , Meriç Karacan %T Normal erkek fenotipe sahip 45, X/46, XY kromozomal mosaizm ve azoospermisi olan infertil hasta %D 2017 %J Balıkesir Medical Journal %P -2564-6664 %V 1 %N 3 %R %U
ISNAD Erdem, Erkan , Usta, Akın , Altun, Eren , Karacan, Meriç . "Normal erkek fenotipe sahip 45, X/46, XY kromozomal mosaizm ve azoospermisi olan infertil hasta". Balıkesir Medical Journal 1 / 3 (Aralık 2017): 116-119 .
AMA Erdem E , Usta A , Altun E , Karacan M . Normal erkek fenotipe sahip 45, X/46, XY kromozomal mosaizm ve azoospermisi olan infertil hasta. Balıkesir Medical Journal. 2017; 1(3): 116-119.
Vancouver Erdem E , Usta A , Altun E , Karacan M . Normal erkek fenotipe sahip 45, X/46, XY kromozomal mosaizm ve azoospermisi olan infertil hasta. Balıkesir Medical Journal. 2017; 1(3): 116-119.
IEEE E. Erdem , A. Usta , E. Altun ve M. Karacan , "Normal erkek fenotipe sahip 45, X/46, XY kromozomal mosaizm ve azoospermisi olan infertil hasta", Balıkesir Medical Journal, c. 1, sayı. 3, ss. 116-119, Ara. 2017