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 18 free, full-text research articles on human participants. First 3 results:

A unique exonic splicing mutation in the CYP17A1 gene as the cause for steroid 17{alpha}-hydroxylase deficiency.
 

Author(s): Jie Qiao, Bing Han, Bing-Li Liu, Wei Liu, Jia-Jun Wu, Chun-Ming Pan, He Jiang, Ting Gu, Bo-Ren Jiang, Hui Zhu, Ying-Li Lu, Wan-Ling Wu, Ming-Dao Chen, Huai-Dong Song

Journal: Eur. J. Endocrinol.. 2011 Apr;164(4):627-33.

 

17α-Hydroxylase/17,20-lyase deficiency (17OHD) caused by a mutation in the CYP17A1 gene is characterized by hypertension, hypokalemia, and abnormal development of the genitalia. The majority of CYP17A1 mutations are located in the coding sequence, and several intronic splicing site ...

Last Updated: 23 Mar 2011

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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: 26 Jan 2009

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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: 6 May 2008

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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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