Iranian Journal of Medical Sciences
Iranian Journal of Medical Sciences

Congenital Adrenal Hyperplasia and Schmid Metaphyseal Chondrodysplasia in a Child

Document Type : Case Report(s)

Authors

Efat Khorasani
Rahim Vakili

Department of Pediatric Endocrinology, Imam Reza Hospital, Mashhad University of Medical Sciences, Mashhad, Iran

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.

Keywords

Adrenal hyperplasia
Congenital
Osteochondrodysplasias
Humans
Male
Iranian Journal of Medical Sciences
Volume 41, Issue 1 - Serial Number 1
65
January 2016
Pages 64-66

  • Received 23 November 2013
  • Revised 22 August 2020
  • Accepted 24 December 2018

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