LinkedIn

 آمار

تعداد نشریات20
تعداد شماره‌ها1,149
تعداد مقالات10,518
تعداد مشاهده مقاله45,416,358
تعداد دریافت فایل اصل مقاله11,292,318
Khorasani, Efat, Vakili, Rahim. (1394). Congenital Adrenal Hyperplasia and Schmid Metaphyseal Chondrodysplasia in a Child. سامانه مدیریت نشریات علمی, 41(1), 64-66.
Efat Khorasani; Rahim Vakili. "Congenital Adrenal Hyperplasia and Schmid Metaphyseal Chondrodysplasia in a Child". سامانه مدیریت نشریات علمی, 41, 1, 1394, 64-66.
Khorasani, Efat, Vakili, Rahim. (1394). 'Congenital Adrenal Hyperplasia and Schmid Metaphyseal Chondrodysplasia in a Child', سامانه مدیریت نشریات علمی, 41(1), pp. 64-66.
Khorasani, Efat, Vakili, Rahim. Congenital Adrenal Hyperplasia and Schmid Metaphyseal Chondrodysplasia in a Child. سامانه مدیریت نشریات علمی, 1394; 41(1): 64-66.

Congenital Adrenal Hyperplasia and Schmid Metaphyseal Chondrodysplasia in a Child

Iranian Journal of Medical Sciences
مقاله 11، دوره 41، شماره 1، فروردین 2016، صفحه 64-66    اصل مقاله (269.9 K)
نوع مقاله: Case Report(s)
نویسندگان
Efat Khorasani* ؛ Rahim Vakili
Department of Pediatric Endocrinology, Imam Reza Hospital, Mashhad University of Medical Sciences, Mashhad, Iran
چکیده
Congenital adrenal hyperplasia (CAH) is a group of hereditary diseases, which are autosomal recessive. CAH occurs due to defect in one of the cortisol coding genes and often clinically presents itself with signs of androgen overproduction. In this article, we report a case of CAH and Schmid metaphyseal dysplasia. Our literature review indicated that this report is the first attempt on CYP11B1 and Schmid dysplasia in a child. The specific diagnosis of 11-β-hydroxylase deficiency can be determined using high basal levels of deoxycorticosterone and/or 11-deoxycortisol serums.
کلیدواژه‌ها
Adrenal hyperplasia؛ Congenital؛ Osteochondrodysplasias؛ Humans؛ Male
آمار
تعداد مشاهده مقاله: 2,967
تعداد دریافت فایل اصل مقاله: 1,387


سامانه مدیریت نشریات علمی. قدرت گرفته از سیناوب