Congenital adrenal hyperplasia and Schmid metaphyseal chondrodysplasia in a child
IJMS-Iranian Journal of Medical Sciences. 2016; 41 (1): 64-66
em Inglês
| IMEMR
| ID: emr-175769
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-beta-hydroxylase deficiency can be determined using high basal levels of deoxycorticosterone and/or 11-deoxycortisol serums
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Índice:
IMEMR (Mediterrâneo Oriental)
Assunto principal:
Osteocondrodisplasias
/
Criança
/
Desoxicorticosterona
/
Literatura
Tipo de estudo:
Relato de Casos
Limite:
Criança, pré-escolar
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Iran. J. Med. Sci.
Ano de publicação:
2016
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