دوره 7، شماره 1 - ( 1-1398 )                   جلد 7 شماره 1 صفحات 21-14 | برگشت به فهرست نسخه ها


XML English Abstract Print


Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:

Agha Gholizadeh M, Bazgir A, Sarvar F, Pakzad Z. A female with 46,XY Disorder of Sexual Development with normal SRY gene sequence: A case report. Jorjani Biomed J 2019; 7 (1) :14-21
URL: http://goums.ac.ir/jorjanijournal/article-1-634-fa.html
A female with 46,XY Disorder of Sexual Development with normal SRY gene sequence: A case report. فصلنامه علمی پژوهشی زیست پزشکی جرجانی. 1398; 7 (1) :14-21

URL: http://goums.ac.ir/jorjanijournal/article-1-634-fa.html


چکیده:   (4353 مشاهده)
Background: Disorders of sex development (DSD) are a medical condition that affects the normal process of sexual  Various of the genes needed for gonad development have been identified by investigation of patients with disorders sex development (DSD).Phenotypes of patients with 46,XY DSD range from atonalism in female phenotype with complete external  genitalia to male phenotype with testicular regression. Individuals with 46,XYagonadiam show a wide range of clinical features and in some cases, there is not a clear diagnosis for this patients. We presented the clinical and molecular study a patient with 46,XY female without gonadal tissue.
Case presentation: A 27-year-old female was attended to our center because of primary amenorrhea. Ultrasonography did not show gonadal tissue including Mullerian structures, uterus, and Wolffian structures. Also, the patient had not streak gonad. We performed cytogenetic study and molecular analysis, including automated sequencing of the entire coding region of SRY gene, in the patient with agonadism. Our result showed 46,XY karyotype. Also, we noticed that molecular mutations in SRY are not identified as a cause of DSD female without a gonadal tissue. Laboratory examination showed that this case is a unique patient with 46,XYfemale agonadism that has no association with previously described.
Conclusions: The present case was a patient with 46, XYagonadism without hormonal or kidney defect and we did not detect mutation in SRY gene. To our knowledge, this case is a unique patient with 46,XYagonadism that has no association with previously described. So this case would be helpful for clinicians to assess 46,XY female patients without gonadal tissue.
 
متن کامل [PDF 1841 kb]   (1912 دریافت)    
نوع مقاله: گزارش مورد | موضوع مقاله: علوم مولکولی
دریافت: 1396/11/10 | پذیرش: 1397/11/13 | انتشار: 1398/1/10

ارسال نظر درباره این مقاله : نام کاربری یا پست الکترونیک شما:
CAPTCHA

بازنشر اطلاعات
Creative Commons License این مقاله تحت شرایط Creative Commons Attribution-NonCommercial 4.0 International License قابل بازنشر است.

کلیه حقوق این وب سایت متعلق به مجله زیست پزشکی جرجانی می باشد.

طراحی و برنامه نویسی : یکتاوب افزار شرق

© 2024 CC BY-NC 4.0 | Jorjani Biomedicine Journal

Designed & Developed by : Yektaweb