İnfertil bir erkekte 46 XX testiküler bozukluk
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Tarih
2017
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Kırıkkale Üniversitesi
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
46 XX erkek cinsel gelişim bozukluğu çok nadir görülen bir hastalıktır. Y kromozomuna yerleşmiş olan SRY (sexdetermining region Y) geni cinsiyet belirleyen gendir. Bu gen bölgesini içeren Y kromozomunun bir parçasının X kromozomuna transloke olmasıyla hastalığın geliştiği düşünülmektedir. Otuz beş yaşında erkek hasta infertilite, cinsel istekte azalma şikayetleriyle polikliniğimize başvurdu. Fizik muayenesinde yüzde kırışıklıklar, kıllanma azlığı, kısa boy, küçük testisler mevcuttu. Hastada hipergonadotropik hipogonadizm ve azospermi saptandı. Hastanın karyotip analizi 46 XX olarak rapor edildi. SRY gen analizi pozitif bulundu. Bu hastalarda spermatogenez olmadığından testis biyopsisi ile sperm elde edilemez. Hastalığın başlıca tedavisi testosteron yerine koyma tedavisidir. İnfertilite ile başvuran primer hipogonadizmli hastaların ayırıcı tanısında bu nadir hastalık dikkate alınmalıdır.
46 XX male sexual disorder is a very rare disease. SRY (sexdetermining region Y) located in the Y chromosome is a main sex-specific gen location. It is thought that the translocation of Y chromosome part containing this gene region to the X chromosome is responsible for the disorder. A 35 year-old male patient was admitted to the outpatient clinic with complaints of infertility and decreased sexual desire. Physical examination revealed wrinkles on the face, lack of hair, short stature as well as small testicles. Hypergonadotropic hypogonadism and azoospermia were detected in the patient. The patient's karyotype analysis was reported as 46 XX. SRY gene analysis was positive. These patients do not have spermatogenesis, thus sperm can not be obtained with testis biopsy. The main treatment of the disease is testosterone replacement therapy. In the differential diagnosis of patients with primary hypogonadism presenting with infertility, this rare disease should be considered.
46 XX male sexual disorder is a very rare disease. SRY (sexdetermining region Y) located in the Y chromosome is a main sex-specific gen location. It is thought that the translocation of Y chromosome part containing this gene region to the X chromosome is responsible for the disorder. A 35 year-old male patient was admitted to the outpatient clinic with complaints of infertility and decreased sexual desire. Physical examination revealed wrinkles on the face, lack of hair, short stature as well as small testicles. Hypergonadotropic hypogonadism and azoospermia were detected in the patient. The patient's karyotype analysis was reported as 46 XX. SRY gene analysis was positive. These patients do not have spermatogenesis, thus sperm can not be obtained with testis biopsy. The main treatment of the disease is testosterone replacement therapy. In the differential diagnosis of patients with primary hypogonadism presenting with infertility, this rare disease should be considered.
Açıklama
Anahtar Kelimeler
46 XX testiküler bozukluk, SRY, Erkek infertilitesi, 46 XX testicular disorder, Male infertility
Kaynak
Kırıkkale Üniversitesi Tıp Fakültesi Dergisi
WoS Q Değeri
Scopus Q Değeri
Cilt
19
Sayı
3
Künye
Pekkolay, Z., Kılınç, F., Tuna, M. M., Soylu, H. ve Tuzcu, A. K. (2017). İnfertil bir erkekte 46 XX testiküler bozukluk. Kırıkkale Üniversitesi Tıp Fakültesi Dergisi, 19(3), 220-223.
