301 related items for PubMed ID: 11795656
1. Salt wasting in simple virilizing congenital adrenal hyperplasia.
Frisch H, Battelino T, Schober E, Baumgartner-Parzer S, Nowotny P, Vierhapper H.
J Pediatr Endocrinol Metab; 2001; 14(9):1649-55. PubMed ID: 11795656
[Abstract] [Full Text] [Related]
2. Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia.
Dolzan V, Sólyom J, Fekete G, Kovács J, Rakosnikova V, Votava F, Lebl J, Pribilincova Z, Baumgartner-Parzer SM, Riedl S, Waldhauser F, Frisch H, Stopar-Obreza M, Krzisnik C, Battelino T.
Eur J Endocrinol; 2005 Jul; 153(1):99-106. PubMed ID: 15994751
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3. Prenatal dexamethasone treatment in pregnancies at risk for congenital adrenal hyperplasia due to 21-hydroxylase deficiency: effect on midgestational amniotic fluid steroid levels.
Dörr HG, Sippell WG.
J Clin Endocrinol Metab; 1993 Jan; 76(1):117-20. PubMed ID: 8421074
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4. Obesity among children and adolescents with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Völkl TM, Simm D, Beier C, Dörr HG.
Pediatrics; 2006 Jan; 117(1):e98-105. PubMed ID: 16396852
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5. A rare CYP 21 mutation (p.E431K) induced deactivation of CYP 21A2 and resulted in congenital adrenal hyperplasia.
Kawashima Y, Usui T, Fujimoto M, Miyahara N, Nishimura R, Hanaki K, Kanzaki S.
Endocr J; 2015 Jan; 62(1):101-6. PubMed ID: 25319875
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6. Growth pattern of untreated boys with simple virilizing congenital adrenal hyperplasia indicates relative androgen insensitivity during the first six months of life.
Bonfig W, Schwarz HP.
Horm Res Paediatr; 2011 Jan; 75(4):264-8. PubMed ID: 21196707
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7. Mutational spectrum of congenital adrenal hyperplasia in Slovenian patients: a novel Ala15Thr mutation and Pro30Leu within a larger gene conversion associated with a severe form of the disease.
Dolzan V, Stopar-Obreza M, Zerjav-Tansek M, Breskvar K, Krzisnik C, Battelino T.
Eur J Endocrinol; 2003 Aug; 149(2):137-44. PubMed ID: 12887291
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8. Molecular testing in congenital adrenal hyperplasia due to 21α-hydroxylase deficiency in the era of newborn screening.
Sarafoglou K, Lorentz CP, Otten N, Oetting WS, Grebe SK.
Clin Genet; 2012 Jul; 82(1):64-70. PubMed ID: 21534945
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9. Suppression and stimulation of mineralocorticoid hormones (MCH) in the simple virilizing form of congenital adrenal hyperplasia (CAH) evaluated by the quantitation in adrenal venous blood.
Wajchenberg BL, Biglieri EG, Okada H, Malerbi DA, Achando SS, Kater CE.
J Steroid Biochem; 1983 Jul; 19(1B):655-61. PubMed ID: 6350722
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10. Therapeutic challenges in a patient with the simple virilizing (SV) form of congenital adrenal hyperplasia (CAH) due to the P30L/I172N genotype.
Tankoska M, Anastasovska V, Krstevska-Konstantinova M, Naydenov M, Kocova M.
J Pediatr Endocrinol Metab; 2019 May 27; 32(5):543-547. PubMed ID: 31026224
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11. Serum cortisol and 17-hydroxyprogesterone interrelation in classic 21-hydroxylase deficiency: is current replacement therapy satisfactory?
Charmandari E, Matthews DR, Johnston A, Brook CG, Hindmarsh PC.
J Clin Endocrinol Metab; 2001 Oct 27; 86(10):4679-85. PubMed ID: 11600525
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12. Aldosterone production despite absence or defectiveness of the CYP21 genes in two patients with salt-losing congenital adrenal hyperplasia caused by steroid 21-hydroxylase deficiency.
Koppens PF, Hoogenboezem T, Drop SL, de Muinck-Keizer-Schrama SM, Degenhart HJ.
Clin Endocrinol (Oxf); 1998 Dec 27; 49(6):815-22. PubMed ID: 10209571
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13. A rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Coeli-Lacchini FB, Turatti W, Elias PC, Elias LL, Martinelli CE, Moreira AC, Antonini SR, de Castro M.
Gene; 2013 Sep 10; 526(2):239-45. PubMed ID: 23570880
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14. Bone mineral density in girls with classical congenital adrenal hyperplasia due to CYP21 deficiency.
Elnecave RH, Kopacek C, Rigatto M, Keller Brenner J, Sisson de Castro JA.
J Pediatr Endocrinol Metab; 2008 Dec 10; 21(12):1155-62. PubMed ID: 19189689
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15. Splicing mutation in CYP21 associated with delayed presentation of salt-wasting congenital adrenal hyperplasia.
Kohn B, Day D, Alemzadeh R, Enerio D, Patel SV, Pelczar JV, Speiser PW.
Am J Med Genet; 1995 Jul 03; 57(3):450-4. PubMed ID: 7677150
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16. Adrenocortical adenoma associated with inadequately treated congenital adrenal hyperplasia.
Kurtoğlu S, Atabek ME, Keskin M, Patiroglu TE.
J Pediatr Endocrinol Metab; 2003 Dec 03; 16(9):1311-4. PubMed ID: 14714757
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17. Modified-release hydrocortisone is associated with lower plasma renin activity in patients with salt-wasting congenital adrenal hyperplasia.
Tschaidse L, Reisch N, Arlt W, Brac de la Perriere A, Linden Hirschberg A, Juul A, Mallappa A, Merke DP, Newell-Price JDC, Perry CG, Prete A, Rees DA, Stikkelbroeck NMML, Touraine PA, Coope H, Porter J, Ross RJM, Quinkler M.
Eur J Endocrinol; 2023 Jan 10; 188(1):. PubMed ID: 36654495
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18. Siblings of 21-hydroxylase deficiency (non-salt-losing) with aldosterone hypersecretion.
Morimoto I, Yamamoto S, Tateishi H, Ueda S, Toda Y, Zeki K, Watanabe K, Nakano Y, Kashimura M, Eto S.
Intern Med; 1992 May 10; 31(5):690-4. PubMed ID: 1324037
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19. Flutamide decreases cortisol clearance in patients with congenital adrenal hyperplasia.
Charmandari E, Calis KA, Keil MF, Mohassel MR, Remaley A, Merke DP.
J Clin Endocrinol Metab; 2002 Jul 10; 87(7):3197-200. PubMed ID: 12107224
[Abstract] [Full Text] [Related]
20. Hyperandrogenism in carriers of CYP21 mutations: the role of genotype.
Admoni O, Israel S, Lavi I, Gur M, Tenenbaum-Rakover Y.
Clin Endocrinol (Oxf); 2006 Jun 10; 64(6):645-51. PubMed ID: 16712666
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