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Cinsel farklılaşma bozukluğu olan olgularda genetik yaklaşım

Genetic appoproch in cases with disorders of sexual development

Journal Name:

  • Gülhane Tıp Dergisi

Publication Year:

  • 2009

Key Words:

Keywords (Original Language):

Author Name
Abstract (2. Language): 
Disorder of sexual development is characterized with phenotypic-genotypic incompatibility and most of the cases result from the failure of steroid biosynthesis pathway. In this article genetic analysis results of 66 cases who were admitted to our department with disorders of sexual development diagnosed with clinical, laboratory and radiological findings since 2000 are presented. Of all the cases, 10 (15.15%), 15 (22.72%) and 41 (62.12%) presented in the newborn, childhood and adult periods, respectively. Educational and economical status of the families of the cases presenting in the neonatal period were better than those of the cases presenting in adult period. Approximately one third of families with disorders of sexual development had consanguineous marriages. In this selected series of 66 cases, 16 cases (24.24%), 5 cases (13.20%), 2 cases (3.03%) and 43 cases (65.15%) had female pseudohermaphroditism, male pseudohermaphroditism, true hermaphroditism and gonadal dysgenesis, respectively. SRY gene region on Y chromosome was positive in all of the cases with male phenotype consistent ultrasonographically whereas it was negative in all of the cases with female phenotype consistent ultrasonographically. Disorders of sexual development are a medical and social problem, and early diagnosis depends on the education of the whole population. The diagnosis of disorders of sexual development is only possible through the establishment of phenotypic and genotypic association.
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Abstract (Original Language): 
Cinsel farklılaşma bozukluğu, fenotip-genotip uyumsuzluğu ile karakterize bir tablo olup, olguların çoğunda steroid biyosentez yolağında problem vardır. Bu yazıda cinsel farklılaşma bozukluğu şikayeti ile 2000 yılından itibaren bölümü- müze gönderilen, klinik, laboratuvar ve radyolojik olarak bu tanıyı destekleyen 66 olguda genetik analiz sonuçları sunulmaktadır. Olguların 10’u (%15.15) yenido- ğan dönemi, 15’i (%22.72) çocukluk dönemi, 41’i (%62.12) erişkin döneminde bölümümüze başvurmuştur. Ailelerinin sosyoekonomik durumu incelendiğinde, eğitim ve gelir seviyesinin yenidoğan dönemi başvurularında, erişkin döneme göre daha iyi olduğu gözlendi. Cinsel farklılaşma bozukluğu bulunan olguların ailelerinde yaklaşık üçte bir oranında akraba evliliği saptandı. Seçilen 66 olguluk seride 16 olguda (%24.24) dişi psödohermafroditizmi, 5 olguda (%13.20) erkek psödohermafroditizmi, 2 olguda (%3.03) gerçek hermafroditizm ve 43 olguda (%65.15) gonadal disgenez tanısı konmuştur. Ultrasonografi bulguları erkek fenotipi ile uyumlu olan olguların tümünde Y kromozomu SRY gen bölgesi pozitif bulunurken, ultrasonografi bulguları dişi fenotiple uyumlu olan tüm olgularda SRY bölgesi negatif olarak saptandı. Cinsel farklılaşma bozukluğu medikal ve sosyal bir problem olup, erken tanı tüm toplumun bu konuda bilinçlendirilmesine bağlıdır. Cinsel farklılaşma bozukluğu bulunan olgularda tanı ancak genotip-fenotip ilişkisine göre mümkündü
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  • 4
223-228
  • Turkish

REFERENCES

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