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Prevalence of Nonclassic Congenital Adrenal Hyperplasia in Turkish Children Presenting with Premature Pubarche, Hirsutism, or Oligomenorrhoea
المؤلفون المشاركون
Artan, Sevilhan
Binay, Cigdem
Cilingir, Oguz
Yuksel, Zafer
Kutlay, Ozden
Simsek, Enver
المصدر
International Journal of Endocrinology
العدد
المجلد 2014، العدد 2014 (31 ديسمبر/كانون الأول 2014)، ص ص. 1-7، 7ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2014-03-23
دولة النشر
مصر
عدد الصفحات
7
التخصصات الرئيسية
الملخص EN
Background.
Nonclassic congenital adrenal hyperplasia (NCAH), caused by mutations in the gene encoding 21-hydroxylase, is a common autosomal recessive disorder.
In the present work, our aim was to determine the prevalence of NCAH presenting as premature pubarche (PP), hirsutism, or polycystic ovarian syndrome (PCOS) and to evaluate the molecular spectrum of CYP21A2 mutations in NCAH patients.
Methods.
A total of 126 patients (122 females, 4 males) with PP, hirsutism, or PCOS were included in the present study.
All patients underwent an ACTH stimulation test.
NCAH was considered to be present when the stimulated 17-hydroxyprogesterone plasma level was >10 ng/mL.
Results.
Seventy-one of the 126 patients (56%) presented with PP, 29 (23%) with PCOS, and 26 (21%) with hirsutism.
Six patients (4,7%) were diagnosed with NCAH based on mutational analysis.
Four different mutations (Q318X, P30L, V281L, and P453S) were found in six NCAH patients.
One patient with NCAH was a compound heterozygote for this mutation, and five were heterozygous.
Conclusion.
NCAH should be considered as a differential diagnosis in patients presenting with PP, hirsutism, and PCOS, especially in countries in which consanguineous marriages are prevalent.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Binay, Cigdem& Simsek, Enver& Cilingir, Oguz& Yuksel, Zafer& Kutlay, Ozden& Artan, Sevilhan. 2014. Prevalence of Nonclassic Congenital Adrenal Hyperplasia in Turkish Children Presenting with Premature Pubarche, Hirsutism, or Oligomenorrhoea. International Journal of Endocrinology،Vol. 2014, no. 2014, pp.1-7.
https://search.emarefa.net/detail/BIM-1036583
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Binay, Cigdem…[et al.]. Prevalence of Nonclassic Congenital Adrenal Hyperplasia in Turkish Children Presenting with Premature Pubarche, Hirsutism, or Oligomenorrhoea. International Journal of Endocrinology No. 2014 (2014), pp.1-7.
https://search.emarefa.net/detail/BIM-1036583
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Binay, Cigdem& Simsek, Enver& Cilingir, Oguz& Yuksel, Zafer& Kutlay, Ozden& Artan, Sevilhan. Prevalence of Nonclassic Congenital Adrenal Hyperplasia in Turkish Children Presenting with Premature Pubarche, Hirsutism, or Oligomenorrhoea. International Journal of Endocrinology. 2014. Vol. 2014, no. 2014, pp.1-7.
https://search.emarefa.net/detail/BIM-1036583
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1036583
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
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