Diagnosis of female 17α-hydroxylase deficiency after gonadectomy: a case report
نویسندگان
چکیده
منابع مشابه
17α-hydroxylase/17,20-lyase deficiency in congenital adrenal hyperplasia: A case report
Congenital adrenal hyperplasia (CAH) is a rare autosomal recessive disorder caused by mutations in the cytochrome P450 family 17 subfamily A member 1 (CYP17A1) gene located on chromosome 10q24.3, which leads to a deficiency in 17α‑hydroxylase/17,20‑lyase. The disorder is characterized by low blood levels of estrogens, androgens and cortisol, which leads to a compensatory increase in adrenocorti...
متن کاملA Case of 17α-Hydroxylase Deficiency in Genetic Female with Normal Plasma Aldosterone Level and Rudimentary Uterus
Background: 17α-hydroxylase deficiency is a rare cause of congenital adrenal hyperplasia and endocrine hypertension. Only around 124 cases were reported in literature. Case: A 35-year-old Taiwanese female presented with severe hypertension (220/130 mmHg), absence of secondary sexual characteristics and primary amenorrhea. Chromosome study revealed 46XX karyotye. The laboratory data revealed hyp...
متن کاملCYP17A1 Intron Mutation Causing Cryptic Splicing in 17α-Hydroxylase Deficiency
17α-Hydroxylase/17, 20-lyase deficiency (17OHD) is an autosomal recessive disease causing congenital adrenal hyperplasia and a rare cause of hypertension with hypokalemia. The CYP17A1 gene mutation leads to 17OHD and its clinical features. We described an 18 y/o female with clinical features of 17α-hydroxylase/17, 20-lyase deficiency and characterized the functional consequences of an intronic ...
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...
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ژورنال
عنوان ژورنال: Journal of Medical Case Reports
سال: 2019
ISSN: 1752-1947
DOI: 10.1186/s13256-019-2166-9