HAYDAR BAĞIŞ, M. Özgür ÇEVİK, ALİ ÇİFT, İlker GÜNEY, Ömer Faruk KARAÇORLU

46,XX Erkek Fenotipli Olguya Genetik Yaklaşım

Bu çalışmada 46,XX testiküler bozukluk tanısı almış ve fenotipi yetişkin erkek olan hastanın moleküler analizler ile hastalığının karakterize edilmesi amaçlanmıştır. 46,XX erkek sendromu, 46,XX karyotipine sahip erkeklerde görülen normal genital yapıdan ambiguus genitalyaya kadar uzanabilen bir hastalıktır. Vakamız, 5 yıllık evli 29 yaşında erkek hasta ve azoospermiliydi. Erkek infertil hastada, karyotip ve Y mikrodelesyon analizleri aynı anda yapıldı. Hastada 46,XX erkek karyotipi saptandı ve mültipleks PCR ile Y kromozomu AZF-A, AZF-B ve AZF-C gen bölgelerinde Y mikrodelesyonu saptandı. Hastada SRY gen bölgesinin varlığı FISH analizi ile ortaya kondu. Azospermi ve infertilite nedeniyle tıbbi genetik polikliniğine başvuran hastalarda, hastaya daha iyi bir genetik danışmanlık verilebilmesi için vakanın moleküler düzeydeki genetik analizler ile tanımlanması gerekir.

46,XX Male Testicular Disorder Genetic Approach: A Case Report

The aim of this study was to characterize the 46, XX testicular disorder, by an adult male phenotype patient who was diagnosed with the molecular analysis. 46, XX male syndrome is a disease seen in men with 46, XX karyotype whose genital structure can be traced back from normal ambiguous genitalia. Our case was a 5-year married 29-year-old male patient with azoospermia. In a male patient, karyotype and Y microdeletion analyzes were performed at the same time. 46, XX male karyotype revealed by the patient. Y microdeletions were found on the AZFA, AZF-B AZF-C gene by using multiplex PCR. The presence of SRY gene in the patient was determined with FISH analysis. Azoospermic patients admitted to the medical genetics clinic due to infertility must be identified by genetic analysis on molecular level in order to give a better genetic counseling to patients.

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