منابع مشابه
CYP17A1 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 کامل17α-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 کاملCombined 17α-hydroxylase/17,20-lyase deficiency due to p.R96W mutation in the CYP17 gene in a Brazilian patient.
Congenital adrenal hyperplasia (CAH) resulting from 17α-hydroxylase/17,20-lyase deficiency is a rare autosomal recessive disease and the second most common form of CAH in Brazil. We describe the case of a Brazilian patient with CYP17 deficiency (17α-hydroxylase/17,20-lyase deficiency) caused by a homozygous p.R96W mutation on exon 1 of the CYP17 gene, an unusual genotype in Brazilian patients w...
متن کاملSix new cases confirm the clinical molecular profile of complete combined 17α-hydroxylase/ 17,20-lyase deficiency in Brazil.
In 2004, Costa-Santos and cols. reported 24 patients from 19 Brazilian families with 17α-hydroxylase deficiency and showed that p.W406R and p.R362C corresponded to 50% and 32% of CYP17A1 mutant alleles, respectively. The present report describes clinical and molecular data of six patients from three inbred Brazilian families with 17α-hydroxlyse deficiency. All patients had hypogonadism, amenorr...
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ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 1997
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jcem.82.1.3653