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Case Reports
. 2016 Jan;41(1):64-6.

Congenital Adrenal Hyperplasia and Schmid Metaphyseal Chondrodysplasia in a Child

Efat Khorasani  1 , Rahim Vakili  1
Affiliations
Case Reports

Congenital Adrenal Hyperplasia and Schmid Metaphyseal Chondrodysplasia in a Child

Efat Khorasani et al. Iran J Med Sci. 2016 Jan.

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; Humans; Male; Osteochondrodysplasias.

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Figures

Figure 1
Figure 1
Bowed knee in the patient with congenital adrenal hyperplasia.
Figure 2
Figure 2
Radiographic evaluation indicated metaphyseal irregularity and bowed knee.
See this image and copyright information in PMC

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