The analysis of clinical manifestations and genetic mutations in Chinese boys with primary adrenal insufficiency
ABSTRACT To analyze the clinical manifestations of primary adrenal insufficiency in Chinese boys, to investigate the prevalence of DAX1 and SF1 gene mutations, and to explore the association between gene mutations and clinical manifestations.
A total of 25 boys with primary adrenal insufficiency were enrolled. Mutational analysis of the DAX1 and SF1 genes was done by direct sequencing.
DAX1 gene mutations were found in 40% (10 of 25) of 46,XY phenotypic boys referred with adrenal insufficiency, and six of these were novel. One SF1 gene mutation was identified. These patients demonstrated diverse clinical presentations. There was no definite association between clinical manifestations and genetic mutations.
DAX1 gene mutations are a relatively frequent cause of primary adrenal insufficiency. In contrast, mutation in the SF1 gene is seldom found. There is no definite relationship between gene mutations and clinical manifestations.
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ABSTRACT: Adrenal hypoplasia congenita (AHC) is a rare disorder. The X-linked form is related to mutations in the DAX1 (NROB1) gene. Here, we report a newborn who had a novel hemizygous frameshift mutation in DAX1 (c.543delA) and presented with primary adrenal failure that was initially misdiagnosed as congenital adrenal hyperplasia. This report highlights the value of genetic testing for definite diagnosis in children with primary adrenal failure due to abnormal adrenal gland development, providing the possibility both for presymptomatic, and in cases with a sibling with this condition, for prenatal diagnosis.Journal of Clinical Research in Pediatric Endocrinology 07/2013; 5(1). DOI:10.4274/Jcrpe.895This article is viewable in ResearchGate's enriched formatRG Format enables you to read in context with side-by-side figures, citations, and feedback from experts in your field.