Cortisone Reductase Deficiency
Last Posted: Jan 20, 2012
- Association study of CYP17 and HSD11B1 in polycystic ovary syndrome utilizing comprehensive gene coverage.
Chua Angela K, et al. Molecular human reproduction 2012 6 (6) 320-4
- Cortisone reductase deficiency
From NCATS Genetic and Rare Diseases Information Center
- Mutations of the hexose-6-phosphate dehydrogenase gene rarely cause hyperandrogenemic polycystic ovary syndrome.
Qin Kenan, et al. Steroids 2011 1 (1-2) 135-9
- Hexose-6-phosphate dehydrogenase: a new risk gene for multiple sclerosis.
Alcina Antonio, et al. European journal of human genetics : EJHG 2010 5 (5) 618-20
- Genetic variation in 11beta-hydroxysteroid dehydrogenase type 1 predicts adrenal hyperandrogenism among lean women with polycystic ovary syndrome.
Gambineri Alessandra, et al. The Journal of clinical endocrinology and metabolism 2006 6 (6) 2295-302
- Lack of Association of the 11beta-hydroxysteroid dehydrogenase type 1 gene 83,557insA and hexose-6-phosphate dehydrogenase gene R453Q polymorphisms with body composition, adrenal androgen production, blood pressure, glucose metabolism, and dementia.
Smit Pauline, et al. The Journal of clinical endocrinology and metabolism 2007 1 (1) 359-62
- A study of the hexose-6-phosphate dehydrogenase gene R453Q and 11beta-hydroxysteroid dehydrogenase type 1 gene 83557insA polymorphisms in the polycystic ovary syndrome.
San Millán José L, et al. The Journal of clinical endocrinology and metabolism 2005 7 (7) 4157-62
- Genotypes at 11beta-hydroxysteroid dehydrogenase type 11B1 and hexose-6-phosphate dehydrogenase loci are not risk factors for apparent cortisone reductase deficiency in a large population-based sample.
White Perrin C, et al. The Journal of clinical endocrinology and metabolism 2005 10 (10) 5880-3
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.