Erkan ERDEM, Akın USTA, Eren ALTUN, Meriç KARACAN

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.

Keywords:

azoospermia, mozaisim, turner,

PDF

___

1. Lippe B. Turner syndrome. Endocrinol Metab Clin North Am 1991;20:121-52.
2. Cunniff C. Turner syndrome. Adolesc Med 2002;13:359-66.
3. Elsheikh M, Dunger DB, Conway GS, Wass JA. Turner’s syndrome in adulthood. Endocr Rev 2002;23:120-40.
4. Ogata T, Matsuo N. Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features. Hum Genet 1995;95:607-29.
5. Stratakis CA, Rennert OM. Turner syndrome: molecular and cytogenetics, dismorphology, endocrine and clinical manifestations and their manegement. Endokrinologist 1994;4: 442-53.
6. Sybert VP, McCauley E. Turner’s syndrome. N Engl J Med 2004;351:1227-38.
7. Siegel DH, Sybert VP. Understanding aneuploidy. Pediatr Dermatol 2005;22:270-5.
8. Kim ED, Bischoff FZ, Lipshultz LkI, Lamb DJ. Genetic concerns for the subfertile male in the era of ICSI. Prenat Diagn 1998;18:1349–65.
9. Niederberger C. Genetic abnormalities among severely oligospermic men who are candidates for intracytoplasmic sperm injection. J Urol 2005;174:1046–7.
10. Telvi L, Lebbar A, Del Pino O, Barbet JP, Chaussain JL. 45,X/46,XY mosaicism: report of 27 cases. Pediatrics 1999; 104:304–8.
11. Aranoff GS, Morishima A. XO/XY mosaicism in delayed puberty. J Adolesc Health Care 1988;9:501–4.