TY - JOUR ID - 40226 TI - Congenital Adrenal Hyperplasia and Schmid Metaphyseal Chondrodysplasia in a Child JO - Iranian Journal of Medical Sciences JA - IJMS LA - en SN - 0253-0716 AU - Khorasani, Efat AU - Vakili, Rahim AD - Department of Pediatric Endocrinology, Imam Reza Hospital, Mashhad University of Medical Sciences, Mashhad, Iran Y1 - 2016 PY - 2016 VL - 41 IS - 1 SP - 64 EP - 66 KW - Adrenal hyperplasia KW - Congenital KW - Osteochondrodysplasias KW - Humans KW - Male DO - N2 - 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. UR - https://ijms.sums.ac.ir/article_40226.html L1 - https://ijms.sums.ac.ir/article_40226_c314296ae5641b3fc20eee8032b5be2f.pdf ER -