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Quoted phrase not found in phrase index: "Deficiency of steroid 17-alpha-monooxygenase"
Page 1
Adrenal changes associated with adrenarche.
Nakamura Y, Gang HX, Suzuki T, Sasano H, Rainey WE. Nakamura Y, et al. Rev Endocr Metab Disord. 2009 Mar;10(1):19-26. doi: 10.1007/s11154-008-9092-2. Rev Endocr Metab Disord. 2009. PMID: 18821019 Free PMC article. Review.
The mechanisms causing the rise in adrenal androgen production during the course of adrenarche remain to be defined. However, the increase in steroid release is clearly associated with a series of intra-adrenal changes in the expression of steroidogenic enzymes need …
The mechanisms causing the rise in adrenal androgen production during the course of adrenarche remain to be defined. However, the inc …
Molecular basis of 17alpha-hydroxylase/17,20-lyase deficiency.
Yanase T, Imai T, Simpson ER, Waterman MR. Yanase T, et al. J Steroid Biochem Mol Biol. 1992 Dec;43(8):973-9. doi: 10.1016/0960-0760(92)90325-D. J Steroid Biochem Mol Biol. 1992. PMID: 22217842 Review.
The molecular bases of cases clinically reported as 17alpha-hydroxylase deficiency have turned out to be complete or partial combined deficiencies of 17alpha-hydroxylase/17,20-lyase. ...Based on the results obtained so far we can predict that those 17alpha-hy …
The molecular bases of cases clinically reported as 17alpha-hydroxylase deficiency have turned out to be complete or partial combined …
Genetic and clinical features of p450 oxidoreductase deficiency.
Scott RR, Miller WL. Scott RR, et al. Horm Res. 2008;69(5):266-75. doi: 10.1159/000114857. Epub 2008 Feb 6. Horm Res. 2008. PMID: 18259105 Free article. Review.
Since the first description of POR mutations in 2004, about 50 patients have been reported. Serum steroid profiles indicate partial deficiencies in 21-hydroxylase, 17alpha-hydroxylase and 17,20-lyase. ...The prognosis for patients with POR deficiency a …
Since the first description of POR mutations in 2004, about 50 patients have been reported. Serum steroid profiles indicate partial …
The broad phenotypic spectrum of 17alpha-hydroxylase/17,20-lyase (CYP17A1) deficiency: a case series.
Sun M, Mueller JW, Gilligan LC, Taylor AE, Shaheen F, Noczyńska A, T'Sjoen G, Denvir L, Shenoy S, Fulton P, Cheetham TD, Gleeson H, Rahman M, Krone NP, Taylor NF, Shackleton CHL, Arlt W, Idkowiak J. Sun M, et al. Eur J Endocrinol. 2021 Oct 11;185(5):729-741. doi: 10.1530/EJE-21-0152. Eur J Endocrinol. 2021. PMID: 34524979 Free PMC article.
CONTEXT: 17alpha-Hydroxylase/17,20-lyase deficiency (17OHD) caused by mutations in the CYP17A1 gene is a rare form of congenital adrenal hyperplasia typically characterised by cortisol deficiency, mineralocorticoid excess and sex steroid deficiency. .. …
CONTEXT: 17alpha-Hydroxylase/17,20-lyase deficiency (17OHD) caused by mutations in the CYP17A1 gene is a rare form of congenital adre …
Clinical and Genetic Characteristics of 17 alpha-Hydroxylase/17, 20-Lyase Deficiency: c.985_987delTACinsAA Mutation of CYP17A1 Prevalent in the Chinese Han Population.
Xia J, Liu F, Wu J, Xia Y, Zhao Z, Zhao Y, Ren H, Kong X. Xia J, et al. Endocr Pract. 2021 Feb;27(2):137-145. doi: 10.4158/EP-2020-0478. Epub 2020 Dec 8. Endocr Pract. 2021. PMID: 33547012
OBJECTIVE: 17 alpha-hydroxylase/17, 20-lyase deficiency (17-OHD) is a rare recessive hereditary disease that can be attributed to cytochrome P450 17 alpha-hydroxylase deficiency caused by CYP17A1 gene mutations. ...Karyotype …
OBJECTIVE: 17 alpha-hydroxylase/17, 20-lyase deficiency (17-OHD) is a rare recessive hereditary disease that can …
My engagement with steroids: a review.
Biglieri EG. Biglieri EG. Steroids. 1995 Jan;60(1):52-8. doi: 10.1016/0039-128x(94)00008-z. Steroids. 1995. PMID: 7792816 Review.
In the course of my studies of patients with mineralocorticoid hypertensive disorders, unusual presentations led to unexpected findings, both clinically and in steroid etiologies and regulation. Unique circumstances permitted early studies in defining the autonomy o …
In the course of my studies of patients with mineralocorticoid hypertensive disorders, unusual presentations led to unexpected findin …
High incidence of hypertension-mediated organ damage in a series of Chinese patients with 17alpha-hydroxylase deficiency.
Zhao Z, Lu L, Wang O, Wu X, Sun B, Zhang W, Wang X, Mao J, Chen S, Tong A, Nie M. Zhao Z, et al. Endocrine. 2022 Apr;76(1):151-161. doi: 10.1007/s12020-021-02966-w. Epub 2022 Jan 14. Endocrine. 2022. PMID: 35032013
OBJECTIVE: To analyze the prevalence of hypertension-mediated organ damage (HMOD) and its relationship with enzyme activity of mutant CYP17A1 and other risk factors in patients with 17alpha-hydroxylase/17,20-lyase deficiency (17-OHD). METHODS: A total of 68 patients with 1 …
OBJECTIVE: To analyze the prevalence of hypertension-mediated organ damage (HMOD) and its relationship with enzyme activity of mutant CYP17A …
A rare case of 17alpha-hydroxylase/17, 20-lyase deficiency: Clinical and genetic findings and follow-up outcomes.
Dai LZ, Ma H, Ke JF, Lin CS, Huang Y, Tian Y, Chen D. Dai LZ, et al. Womens Health (Lond). 2022 Jan-Dec;18:17455057221122597. doi: 10.1177/17455057221122597. Womens Health (Lond). 2022. PMID: 36129002 Free PMC article.
Here, we reported a case of a 16-year-old Chinese female patient (46, XX) diagnosed as 17alpha-hydroxylase/17, 20-lyase deficiency (17-OHD) in June 2018 and over 3 years follow-up outcomes; 17-OHD is a rare form of congenital adrenal hyperplasia. ...
Here, we reported a case of a 16-year-old Chinese female patient (46, XX) diagnosed as 17alpha-hydroxylase/17, 20-lyase deficiency (1 …
Endocrine profiles and cycle characteristics of infertile 17alpha-hydroxylase/17,20-lyase Deficiency Patients undergoing assisted Reproduction Treatment: a retrospective cohort study.
Pan P, Zheng L, Huang J, Chen X, Ni R, Zhang Q, Yang D, Li Y. Pan P, et al. J Ovarian Res. 2023 Jun 14;16(1):111. doi: 10.1186/s13048-023-01190-6. J Ovarian Res. 2023. PMID: 37316894 Free PMC article.
BACKGROUND: 17alpha-hydroxylase/17,20-lyase deficiency (17-OHD) is a rare form of congenital adrenal hyperplasia caused by CYP17A1 gene variants. ...Therefore, female infertility caused by 17-OHD is suggested as an indication for freeze-all strategy, with promising reprodu …
BACKGROUND: 17alpha-hydroxylase/17,20-lyase deficiency (17-OHD) is a rare form of congenital adrenal hyperplasia caused by CYP17A1 ge …
Presentation, Diagnosis, and Follow-Up Characteristics of 17alpha-Hydroxylase Deficiency Cases with Exon 1-6 Deletion (Founder Mutation) in the CYP17A1Gene: 20-Year Single-Center Experience.
Dundar I, Akinci A, Camtosun E, Ciftci N, Kayas L. Dundar I, et al. Sex Dev. 2023;17(1):43-50. doi: 10.1159/000529158. Epub 2023 Jan 18. Sex Dev. 2023. PMID: 36652930
CONTEXT: 17alpha-Hydroxylase/17,20-lyase deficiency (17OHD) is characterized by decreased sex steroids and cortisol synthesis, as well as an increased mineralocorticoid effect. ...
CONTEXT: 17alpha-Hydroxylase/17,20-lyase deficiency (17OHD) is characterized by decreased sex steroids and cortisol synthesis, as wel …
34 results