Deficiency of 17 alpha-hydroxylase associated with absent gonads.
نویسندگان
چکیده
منابع مشابه
Seventeen Alpha-Hydroxylase Deficiency Associated with Absent Gonads and Myelolipoma: A Case Report and Review of Literature
Congenital adrenal hyperplasia comprises a group of disorders resulting from defects in enzymes required for the synthesis of cortisol. The clinical presentation depends on the specific enzyme defect. We report a rare case of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency. A 26-year-old female patient referred with hypertension and hypokalemia. She also had primary amenor...
متن کاملseventeen alpha-hydroxylase deficiency associated with absent gonads and myelolipoma: a case report and review of literature
congenital adrenal hyperplasia comprises a group of disorders resulting from defects in enzymes required for the synthesis of cortisol. the clinical presentation depends on the specific enzyme defect. we report a rare case of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency. a 26-year-old female patient referred with hypertension and hypokalemia. she also had primary amenor...
متن کاملSeventeen Alpha-Hydroxylase Deficiency Associated with Absent Gonads and Myelolipoma: A Case Report and Review of Literature
Congenital adrenal hyperplasia comprises a group of disorders resulting from defects in enzymes required for the synthesis of cortisol. The clinical presentation depends on the specific enzyme defect. We report a rare case of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency. A 26-year-old female patient referred with hypertension and hypokalemia. She also had primary amenor...
متن کاملA case of 17 alpha-hydroxylase deficiency
17α-hydroxylase and 17,20-lyase are enzymes encoded by the CYP17A1 gene and are required for the synthesis of sex steroids and cortisol. In 17α-hydroxylase deficiency, there are low blood levels of estrogens, androgens, and cortisol, and resultant compensatory increases in adrenocorticotrophic hormone that stimulate the production of 11-deoxycorticosterone and corticosterone. In turn, the exces...
متن کاملAn easily missed diagnosis: 17-alpha-hydroxylase/17,20-lyase deficiency.
The CYP17A1 gene encodes the enzyme P450c17, which mediates both 17α-hydroxylase and 17,20-lyase activities and is essential for production of cortisol and sex steroids. Loss-of-function mutations of this gene cause 17α-hydroxylase/17,20-lyase deficiency, characterized by hypertension, hypokalemia and sexual infantilism. A 6-year-old phenotypically female patient presented with hypertension and...
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ژورنال
عنوان ژورنال: Postgraduate Medical Journal
سال: 1992
ISSN: 0032-5473
DOI: 10.1136/pgmj.68.795.59