A new CYP21A1P/CYP21A2chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form
نویسندگان
چکیده
منابع مشابه
Congenital Adrenal Hyperplasia and Schmid Metaphyseal Chondrodysplasia in a Child
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 a...
متن کاملNon-Classical Congenital Adrenal Hyperplasia in Childhood
Congenital adrenal hyperplasia (CAH) is classified as classical CAH and non-classical CAH (NCCAH). In the classical type, the most severe form comprises both salt-wasting and simple virilizing forms. In the non-classical form, diagnosis can be more confusing because the patient may remain asymptomatic or the condition may be associated with signs of androgen excess in the postnatal period or in...
متن کاملEthnic disparity in 21-hydroxylase gene mutations identified in Pakistani congenital adrenal hyperplasia patients
BACKGROUND Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders caused by defects in the steroid 21 hydroxylase gene (CYP21A2). We studied the spectrum of mutations in CYP21A2 gene in a multi-ethnic population in Pakistan to explore the genetics of CAH. METHODS A cross sectional study was conducted for the identification of mutations CYP21A2 and their phenotypic as...
متن کاملa case of congenital lipoid adrenal hyperplasia
lipoid congenital adrenal hyperplasia (lipoid cah), a rare disorder of steroid biosynthesis, is the most severe form of cah. in this disorder the synthesis of glucocorticoids, mineralocorticoids and sex steroids is impaired which result in adrenal failure, severe salt wasting crisis and hyperpigmentation in phenotypical female infants irrespective of genetic sex. in this report, we presented a ...
متن کاملA CYP21A2 gene mutation in patients with congenital adrenal hyperplasia
Objectives: The aim of this study is to determine congenital adrenal hyperplasia (CAH) with the pattern of CYP21A2 gene-mutations in Saudi children. Methods: Between January 2011 and March 2014 at King Fahad Military Complex, Dhahran, Saudi Arabia, we thoroughly examined 11 patients with CAH and 2 asymptomatic individuals with a history of affected siblings. Additionally, we sequenced the full ...
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ژورنال
عنوان ژورنال: BMC Medical Genetics
سال: 2009
ISSN: 1471-2350
DOI: 10.1186/1471-2350-10-72