Abstract
XY disorder of sex development (46,XY DSD) is characterized by a 46,XY karyotype, ambiguous genitalia with mild to severe penoscrotal hypospadias ,dysgenetic testes, reduced to no sperm production, and mullerian structures that range from absent to presence of a fully developed uterus and fallopian tubes. 46,XY complete gonadal dysgenesis is characterized by a 46,XY karyo- type, normal female external genitalia, completely undeveloped streak gonads, no sperm production, and presence of normal mullerian structures and often not diagnosed until puberty when secondary sexual characteristics fail to develop. The diagnosis of 46,XY DSD and 46,XY gonodal dysgenesis relies on clinical findings, gonadal histology, chromosome analysis testing to detect changes in genes.Because of increased risk for gonadal tumors(most commonly dysgerminoma) abdominal streak gonads should be surgically removed . Typically, hormone replacement therapy (HRT) is required from puberty onward. Here we describe the clini- cal, endocrinological and molecular data of a patient with complete 46, XY gonadal dysgenesis.
Highlights
46,XY disorder of sex development (46,XY DSD) is characterized by a 46,XY karyotype, ambiguous genitalia with mild to severe penoscrotal hypospadias,dysgenetic testes, reduced to no sperm production, and müllerian structures that range from absent to presence of a fully developed uterus and fallopian tubes. 46,XY complete gonadal dysgenesis is characterized by a 46,XY karyotype, normal female external genitalia, completely undeveloped streak gonads, no sperm production, and presence of normal müllerian structures and often not diagnosed until puberty when secondary sexual characteristics fail to develop
46,XY gonadal dysgenesis is characterized by abnormal testicular determination
This clinical condition can be divided into three histologic forms; 46,XY complete or pure gonadal dysgenesis, 46,XY mixed gonadal dysgenesis, partial gonadal dysgenesis (1). 46 XY pure gonadal dysgenesis is a rare condition of intersexuality described by Swyer in 1955
Summary
46,XY cinsiyet gelişim bozukluğu(46,XY CGB) 46,XY karyotip ile karakterize hafif yada ağır penoskrotal hipospadias, azalmış sperm üretimi ,disgenetik testisin olduğu ambigus genitalyadan matür uterus ve fallop tüplerinin olduğu geniş bir kliniğe sahiptir. 46, XY komplet gonadal disgenezi 46, XY karyotip ,normal kadın dış genitaldan sperm üretiminin olmadığı testis, streak gonad, yada normal müllerian yapıların varlığı ile karakterizedir.Sıklıkla seconder sex karakterilerinin gelişiminin geçiktiği puberte dönemine kadar tanısı gözden kaçabilir. 46,XY cinsiyet gelişim bozukluğu ve 46,XY gonodal disgenezi tanısı klinik bulgular,gonodal histoloji ve kromozom analizine dayanır.streak gonadlar artmış tümör riski(sıklıkla disgerminoma) nedeniyle cerrahi olarak çıkarılmalıdır. Hormon replasman tedavisi puberteden itibaren gerekmektedir.bu yazıda 46, XY gonadal dysgenesizi olan bir vakanın klinik ,endokrinolojik ve genetik bulguları sunulmuştur
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