17 alpha-hydroxylase/17,20-lyase deficiency: from clinical investigation to molecular definition
- PMID: 2026124
- DOI: 10.1210/edrv-12-1-91
17 alpha-hydroxylase/17,20-lyase deficiency: from clinical investigation to molecular definition
Similar articles
-
Combined 17 alpha-hydroxylase/17,20-lyase deficiency due to a 7-basepair duplication in the N-terminal region of the cytochrome P45017 alpha (CYP17) gene.J Clin Endocrinol Metab. 1990 May;70(5):1325-9. doi: 10.1210/jcem-70-5-1325. J Clin Endocrinol Metab. 1990. PMID: 2335573
-
Compound heterozygous mutations (Arg 239----stop, Pro 342----Thr) in the CYP17 (P45017 alpha) gene lead to ambiguous external genitalia in a male patient with partial combined 17 alpha-hydroxylase/17,20-lyase deficiency.J Clin Endocrinol Metab. 1992 Mar;74(3):667-72. doi: 10.1210/jcem.74.3.1740503. J Clin Endocrinol Metab. 1992. PMID: 1740503
-
Identification of a common molecular basis for combined 17 alpha-hydroxylase/17,20-lyase deficiency in two Mennonite families.Hum Genet. 1989 Jun;82(3):285-6. doi: 10.1007/BF00291172. Hum Genet. 1989. PMID: 2786493
-
17 alpha-Hydroxylase/17,20-lyase defects.J Steroid Biochem Mol Biol. 1995 Jun;53(1-6):153-7. doi: 10.1016/0960-0760(95)00029-y. J Steroid Biochem Mol Biol. 1995. PMID: 7626447 Review.
-
Disorders of steroid 17 alpha-hydroxylase deficiency.Endocrinol Metab Clin North Am. 1994 Jun;23(2):341-57. Endocrinol Metab Clin North Am. 1994. PMID: 8070426 Review.
Cited by
-
Clinical and molecular manifestation of fifteen 17OHD patients: a novel mutation and a founder effect.Endocrine. 2016 Sep;53(3):784-90. doi: 10.1007/s12020-016-0957-y. Epub 2016 May 5. Endocrine. 2016. PMID: 27150612
-
Multidisciplinary team management of 46,XY 17α-hydroxylase deficiency: a case report and literature review.J Int Med Res. 2021 Mar;49(3):300060521993965. doi: 10.1177/0300060521993965. J Int Med Res. 2021. PMID: 33761789 Free PMC article. Review.
-
The role of aromatase inhibitors in ameliorating deleterious effects of ovarian stimulation on outcome of infertility treatment.Reprod Biol Endocrinol. 2005 Oct 4;3:54. doi: 10.1186/1477-7827-3-54. Reprod Biol Endocrinol. 2005. PMID: 16202169 Free PMC article. Review.
-
Augmentation of progestin signaling rescues testis organization and spermatogenesis in zebrafish with the depletion of androgen signaling.Elife. 2022 Feb 28;11:e66118. doi: 10.7554/eLife.66118. Elife. 2022. PMID: 35225789 Free PMC article.
-
Partial deficiency of 17α-hydroxylase: a rare cause of congenital adrenal hyperplasia.BMJ Case Rep. 2019 Dec 3;12(12):e230778. doi: 10.1136/bcr-2019-230778. BMJ Case Rep. 2019. PMID: 31801776 Free PMC article.
Publication types
MeSH terms
Substances
Grants and funding
LinkOut - more resources
Full Text Sources
Other Literature Sources