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Quoted phrase not found in phrase index: "Deficiency of steroid 17-alpha-monooxygenase"
Page 1
New insights on hyperglycemia in 17-hydroxylase/17,20-lyase deficiency.
Xu L, Lu L, Tong A, Chen S, Li W, Zhang H, Ping F, Li Y. Xu L, et al. Front Endocrinol (Lausanne). 2022 Jul 22;13:917420. doi: 10.3389/fendo.2022.917420. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 35937831 Free PMC article.
OBJECTIVE: The adrenal glands of patients with 17-hydroxylase/17,20-lyase deficiency (17OHD) synthesize excessive 11-deoxycorticosterone(DOC) and progesterone, and produce less amount of sex steroid production. ...
OBJECTIVE: The adrenal glands of patients with 17-hydroxylase/17,20-lyase deficiency (17OHD) synthesize excessive 11-deoxycorticoster …
Clinical characteristics and molecular etiology of partial 17alpha-hydroxylase deficiency diagnosed in 46,XX patients.
Zhang D, Yao F, Luo M, Wang Y, Tian T, Deng S, Tian Q. Zhang D, et al. Front Endocrinol (Lausanne). 2022 Dec 15;13:978026. doi: 10.3389/fendo.2022.978026. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 36589849 Free PMC article.
INTRODUCTION: Complete 17alpha-hydroxylase deficiency (17OHD) is relatively common, with typical juvenile female genitalia, severe hypertension, hypokalemia, and the absence of sexual development, but partial (or non-classical) 17OHD (p17OHD) is extremely rare. ...
INTRODUCTION: Complete 17alpha-hydroxylase deficiency (17OHD) is relatively common, with typical juvenile female genitalia, severe hy …
MECHANISMS IN ENDOCRINOLOGY: Rare defects in adrenal steroidogenesis.
Miller WL. Miller WL. Eur J Endocrinol. 2018 Sep;179(3):R125-R141. doi: 10.1530/EJE-18-0279. Epub 2018 Jun 7. Eur J Endocrinol. 2018. PMID: 29880708 Review.
Congenital adrenal hyperplasia (CAH) is a group of genetic disorders of adrenal steroidogenesis that impair cortisol synthesis, with compensatory increases in ACTH leading to hyperplastic adrenals. The term 'CAH' is generally used to mean 'steroid 21-hydroxylase deficie …
Congenital adrenal hyperplasia (CAH) is a group of genetic disorders of adrenal steroidogenesis that impair cortisol synthesis, with compens …
Genetics of congenital adrenal hyperplasia.
Krone N, Arlt W. Krone N, et al. Best Pract Res Clin Endocrinol Metab. 2009 Apr;23(2):181-92. doi: 10.1016/j.beem.2008.10.014. Best Pract Res Clin Endocrinol Metab. 2009. PMID: 19500762 Free PMC article. Review.
The biochemical and clinical phenotype depends on the specific enzymatic defect and the impairment of specific enzyme activity. Defects of steroid 21-hydroxylase (CYP21A2) and 11beta-hydroxylase (CYP11B1) only affect adrenal steroidogenesis, whereas 17alpha-hydroxylase (CY …
The biochemical and clinical phenotype depends on the specific enzymatic defect and the impairment of specific enzyme activity. Defects of …
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.
P450 oxidoreductase (POR) deficiency is an autosomal recessive disorder of steroidogenesis with multiple clinical manifestations. ...Since the first description of POR mutations in 2004, about 50 patients have been reported. Serum steroid profiles indicate partial …
P450 oxidoreductase (POR) deficiency is an autosomal recessive disorder of steroidogenesis with multiple clinical manifestations. ... …
Classic congenital adrenal hyperplasia and its impact on reproduction.
Gomes LG, Bachega TASS, Mendonca BB. Gomes LG, et al. Fertil Steril. 2019 Jan;111(1):7-12. doi: 10.1016/j.fertnstert.2018.11.037. Fertil Steril. 2019. PMID: 30611420 Free article. Review.
Women with classic congenital adrenal hyperplasia (CAH) can suffer from impaired fertility rates as a result of increased androgen secretion or impaired sex steroid production. In virilizing CAH forms, such as 21-hydroxylase and 11beta-hydroxylase deficiency, the lo …
Women with classic congenital adrenal hyperplasia (CAH) can suffer from impaired fertility rates as a result of increased androgen secretion …
Steroids and hypertension.
Mantero F, Armanini D, Boscaro M, Carpenè G, Fallo F, Opocher G, Rocco S, Scaroni C, Sonino N. Mantero F, et al. J Steroid Biochem Mol Biol. 1991;40(1-3):35-44. doi: 10.1016/0960-0760(91)90165-2. J Steroid Biochem Mol Biol. 1991. PMID: 1958539 Review.
The hypertensive diseases of this zone are rare DOC-secreting tumors and two forms of congenital adrenal hyperplasia (CAH), the 11 beta-hydroxylase (11-OHDS) and the 17 alpha-hydroxylase deficiency syndromes (17-OHDS), which are identified by the prese …
The hypertensive diseases of this zone are rare DOC-secreting tumors and two forms of congenital adrenal hyperplasia (CAH), the 11 beta-hydr …
Getting pregnant with congenital adrenal hyperplasia: Assisted reproduction and pregnancy complications. A systematic review and meta-analysis.
Guo X, Zhang Y, Yu Y, Zhang L, Ullah K, Ji M, Jin B, Shu J. Guo X, et al. Front Endocrinol (Lausanne). 2022 Aug 31;13:982953. doi: 10.3389/fendo.2022.982953. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 36120452 Free PMC article.
We did a systematic literature search of Pubmed, Medline and Scopus for articles reporting successful pregnancies in CAH other than 21-hydroxylase deficiency, and found 25 studies reporting 39 pregnancies covering deficiency in steroidogenic acute regulatory protein …
We did a systematic literature search of Pubmed, Medline and Scopus for articles reporting successful pregnancies in CAH other than 21-hydro …
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. ...
BACKGROUND: 17alpha-hydroxylase/17,20-lyase deficiency (17-OHD) is a rare form of congenital adrenal hyperplasia caused by CYP17A1 ge …
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. ...
OBJECTIVE: 17 alpha-hydroxylase/17, 20-lyase deficiency (17-OHD) is a rare recessive hereditary disease that can …
57 results