title: Congenital Adrenal Hyperplasia and Schmid Metaphyseal Chondrodysplasia in a Child.
abstract: 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.
authors.affiliation: Department of Pediatric Endocrinology, Imam Reza Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.
authors.forename: Efat
authors.initials: E
authors.lastname: Khorasani
authors.affiliation: Department of Pediatric Endocrinology, Imam Reza Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.
authors.forename: Rahim
authors.initials: R
authors.lastname: Vakili
keywords: Adrenal hyperplasia; Congenital; Humans; Male; Osteochondrodysplasias