Congenital Adrenal Hyperplasia and Schmid Metaphyseal Chondrodysplasia in a Child.
Year: 2016
Type: article
Study design: Case Report
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.
Source: PubMed
Authors: Efat Khorasani, Rahim Vakili
Institutions: Mashhad University of Medical Sciences, Emam Reza Hospital
Language: English
Subfield: Endocrinology, Diabetes and Metabolism
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W2277369849