17-Alpha-Hydroxylase Deficiency

Common Name(s)

17-Alpha-Hydroxylase Deficiency, Deficiency of steroid 17-alpha-monooxygenase

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "17-Alpha-Hydroxylase Deficiency" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Arts and Literature

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "17-Alpha-Hydroxylase Deficiency" returned 17 free, full-text research articles on human participants. First 3 results:

Combined 17 alpha-hydroxylase/17,20-lyase deficiency due to a homozygous 25 BP duplication (NT 4157-4181) at exon 5 in the CYP17 resulting in a premature stop codon predicted by molecular modeling.
 

Author(s): Regina M Martin, Paulo S L Oliveira, Elaine M F Costa, Ivo J P Arnhold, Berenice B Mendonca

Journal: Arq Bras Endocrinol Metabol. 2008 Nov;52(8):1317-20.

 

Combined 17alpha-hydroxylase/17,20-lyase deficiency is a rare, autosomal recessive form of congenital adrenal hyperplasia characterized by the coexistence of hypertension, caused by the hyperproduction of mineralocorticoid precursors and DSD in males and sexual infantilism in females, ...

Last Updated: 31 Dec 1969

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[Diagnosis and treatment of 17 alpha-hydroxylase deficiency: a case report and literature review].
 

Author(s): Lin Zhang, Hai ning Wang, Tian pei Hong

Journal: Beijing Da Xue Xue Bao. 2008 Apr;40(2):221-2.

 

A 16-year-old "female" patient presented as hypertension, hypokalemia, male pseudohermaphroditism, lowered gonadal steroids and cortisol, elevated adrenocorticotropic hormone and pituitary gonadotropin, and 46 XY karyotype. The patient was diagnosed as 17 alpha-hydroxylase deficiency, ...

Last Updated: 31 Dec 1969

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A new variant of the cytochrome P450c17 (CYP17) gene mutation in three patients with 17 alpha-hydroxylase deficiency.
 

Author(s): S Monno, Y Mizushima, N Toyoda, T Kashii, M Kobayashi

Journal: Ann. Hum. Genet.. 1997 May;61(Pt 3):275-9.

 

A new CYP17 gene abnormality was found in three Japanese patients with 17 alpha-hydroxylase deficiency (170HD). These patients were children from consanguineous marriages, but from two apparently unrelated families: one patient with 46, XY karyotype, and two siblings with 46, XX and ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

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The terms "17-Alpha-Hydroxylase Deficiency" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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