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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1970 1
1976 2
1977 2
1978 2
1980 1
1992 1
1993 1
1994 1
1997 4
1998 7
1999 5
2000 4
2001 7
2002 6
2003 10
2004 8
2005 10
2006 12
2007 7
2008 12
2009 11
2010 12
2011 14
2012 14
2013 11
2014 8
2015 20
2016 8
2017 11
2018 13
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2020 15
2021 9
2022 21
2023 17
2024 3

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267 results

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Page 1
Congenital adrenal hyperplasia: clinical symptoms and diagnostic methods.
Podgórski R, Aebisher D, Stompor M, Podgórska D, Mazur A. Podgórski R, et al. Acta Biochim Pol. 2018;65(1):25-33. doi: 10.18388/abp.2017_2343. Epub 2018 Mar 15. Acta Biochim Pol. 2018. PMID: 29543924 Free article. Review.
The most common and prototypical example of the CAH disorders group (90-95%) is caused by 21-hydroxylase deficiency. Less frequent types of CAH are 11beta-hydroxylase deficiency (up to 8% of cases), 17alpha-hydroxylase deficiency, 3beta-hydroxys …
The most common and prototypical example of the CAH disorders group (90-95%) is caused by 21-hydroxylase deficiency. Less frequent ty …
Rare forms of congenital adrenal hyperplasia.
Gurpinar Tosun B, Guran T. Gurpinar Tosun B, et al. Clin Endocrinol (Oxf). 2023 Dec 21. doi: 10.1111/cen.15009. Online ahead of print. Clin Endocrinol (Oxf). 2023. PMID: 38126084 Review.
Although 21-hydroxylase, 11beta-hydroxylase, 3beta-hydroxysteroid dehydrogenase type 2, 17alpha-hydroxylase/17,20-lyase, P450 oxidoreductase, steroidogenic acute regulatory protein, cholesterol side-chain cleavage enzyme deficiencies are considered within the …
Although 21-hydroxylase, 11beta-hydroxylase, 3beta-hydroxysteroid dehydrogenase type 2, 17alpha-hydroxylase/17,20-lyase, P450 …
Investigating mineralocorticoid hypertension.
Nussberger J. Nussberger J. J Hypertens Suppl. 2003 May;21(2):S25-30. doi: 10.1097/00004872-200305002-00005. J Hypertens Suppl. 2003. PMID: 12929904 Review.
In rare cases (<1%), excessive stimulation of the mineralocorticoid receptor is due to cortisol (apparent mineralocorticoid excess, Cushing's disease, liquorice, or hereditary deficiency of 11beta-hydroxysteroid dehydrogenase) or to a chimeric gene coding for 11beta-hyd …
In rare cases (<1%), excessive stimulation of the mineralocorticoid receptor is due to cortisol (apparent mineralocorticoid excess, Cushi …
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.
17alpha-Hydroxylase deficiency is characterized by a defect in either or both of 17alpha-hydroxylase and 17,20-lyase activities, based on the fact that a single polypeptide P450c17 can catalyze both reactions. ...We have sequenced all eight exon …
17alpha-Hydroxylase deficiency is characterized by a defect in either or both of 17alpha-hydroxylase and …
Congenital Adrenal Hyperplasias Presenting in the Newborn and Young Infant.
Balsamo A, Baronio F, Ortolano R, Menabo S, Baldazzi L, Di Natale V, Vissani S, Cassio A. Balsamo A, et al. Front Pediatr. 2020 Dec 22;8:593315. doi: 10.3389/fped.2020.593315. eCollection 2020. Front Pediatr. 2020. PMID: 33415088 Free PMC article. Review.
Congenital adrenal hyperplasia includes autosomal recessive conditions that affect the adrenal cortex steroidogenic enzymes (cholesterol side-chain cleavage enzyme; 3beta-hydroxysteroid dehydrogenase; 17alpha-hydroxylase/17,20 lyase; P450 oxidoreductase; 21-hydroxyl …
Congenital adrenal hyperplasia includes autosomal recessive conditions that affect the adrenal cortex steroidogenic enzymes (cholesterol sid …
Cytochrome P450 Oxidoreductase Deficiency.
Idkowiak J, Cragun D, Hopkin RJ, Arlt W. Idkowiak J, et al. 2005 Sep 8 [updated 2017 Aug 3]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2005 Sep 8 [updated 2017 Aug 3]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301592 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Cytochrome P450 oxidoreductase deficiency (PORD) is a disorder of steroidogenesis with a broad phenotypic spectrum including cortisol deficiency, altered sex steroid synthesis, disorders of sex development (DSD), and skeletal malformations …
CLINICAL CHARACTERISTICS: Cytochrome P450 oxidoreductase deficiency (PORD) is a disorder of steroidogenesis with a broad phenotypic s …
Syndromes that Mimic an Excess of Mineralocorticoids.
Sabbadin C, Armanini D. Sabbadin C, et al. High Blood Press Cardiovasc Prev. 2016 Sep;23(3):231-5. doi: 10.1007/s40292-016-0160-5. Epub 2016 Jun 1. High Blood Press Cardiovasc Prev. 2016. PMID: 27251484 Review.
It can be due to endogenous or exogenous substances that mimic the effector mechanisms of aldosterone, leading not only to alterations of electrolytes and hypertension, but also to an increased inflammatory reaction in several tissues. Enzymatic defects of adrenal steroidogenesis …
It can be due to endogenous or exogenous substances that mimic the effector mechanisms of aldosterone, leading not only to alterations of el …
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.
In virilizing CAH forms, such as 21-hydroxylase and 11beta-hydroxylase deficiency, the low reported pregnancy rate is mainly secondary to a diminished desire to conceive. ...The remaining CAH forms exemplified by StAR, P450scc, P450-oxidoreductase, and 17alpha-hy …
In virilizing CAH forms, such as 21-hydroxylase and 11beta-hydroxylase deficiency, the low reported pregnancy rate is mainly secondar …
Inborn errors of adrenal steroidogenesis.
New MI. New MI. Mol Cell Endocrinol. 2003 Dec 15;211(1-2):75-83. doi: 10.1016/j.mce.2003.09.013. Mol Cell Endocrinol. 2003. PMID: 14656479 Review.
In 3beta-hydroxysteroid deficiency adrenal and gonadal androgen production is deficient resulting in incomplete genital development in genetic males and limited androgen affect in females. Two less frequent causes of CAH 17alpha-Hydroxylase/17,20-lyase …
In 3beta-hydroxysteroid deficiency adrenal and gonadal androgen production is deficient resulting in incomplete genital develo …
267 results