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1980 1
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Allele-specific PCR and Next-generation sequencing based genetic screening for Congenital Adrenal Hyperplasia in India.
Ravichandran L, Korula S, Asha HS, Varghese D, Parthiban R, Johnson J, Ishwarya J, Shetty S, Cherian KE, Jebasingh F, Kapoor N, Pachat D, Mathai S, Simon A, Rajaratnam S, Paul TV, Thomas N, Chapla A. Ravichandran L, et al. Eur J Med Genet. 2021 Dec;64(12):104369. doi: 10.1016/j.ejmg.2021.104369. Epub 2021 Oct 27. Eur J Med Genet. 2021. PMID: 34718183
Through these investigations, 88.7% of the subjects with 21 hydroxylase deficiency were positive for eight CYP21A2 mutations with ASPCR. ...CYP11B1 variants (c.1201-1G>A, c.1200+1del, c.412C>T, c.1024C>T, c.1012dup, c.623G>A) were identified in all six s …
Through these investigations, 88.7% of the subjects with 21 hydroxylase deficiency were positive for eight CYP21A2 mutations w …
Prenatal treatment of congenital adrenal hyperplasia. The United States experience.
New MI. New MI. Endocrinol Metab Clin North Am. 2001 Mar;30(1):1-13. doi: 10.1016/s0889-8529(08)70016-1. Endocrinol Metab Clin North Am. 2001. PMID: 11344929 Review.
Based on the author's experience, prenatal diagnosis and treatment of 21-hydroxylase deficiency is safe and effective in significantly reducing or eliminating virilization in the affected female, and the same outcome seems to be true in the treatment of 11 …
Based on the author's experience, prenatal diagnosis and treatment of 21-hydroxylase deficiency is safe and effective in signi …
11 Beta-hydroxylase deficiency congenital adrenal hyperplasia: update of prenatal diagnosis.
Rösler A, Weshler N, Leiberman E, Hochberg Z, Weidenfeld J, Sack J, Chemke J. Rösler A, et al. J Clin Endocrinol Metab. 1988 Apr;66(4):830-8. doi: 10.1210/jcem-66-4-830. J Clin Endocrinol Metab. 1988. PMID: 3346360
Hormonal measurements in maternal urine and amniotic fluid (AF) during pregnancy and/or at delivery correctly predicted the postnatal diagnosis of 11 beta-hydroxylase deficiency congenital adrenal hyperplasia (11 beta-OH deficiency …
Hormonal measurements in maternal urine and amniotic fluid (AF) during pregnancy and/or at delivery correctly predicted the postnatal diagno …
Early diagnosis of 11 beta-hydroxylase deficiency in two siblings confirmed by analysis of a novel steroid metabolite in newborn urine.
Hughes IA, Arisaka O, Perry LA, Honour JW. Hughes IA, et al. Acta Endocrinol (Copenh). 1986 Mar;111(3):349-54. doi: 10.1530/acta.0.1110349. Acta Endocrinol (Copenh). 1986. PMID: 3515819
Plasma and urinary steroid measurements are reported in 2 normotensive newborn female siblings with virilized external genitalia due to 11 beta-hydroxylase deficiency. Plasma 11-deoxycortisol concentrations were markedly elevated whereas 17OH-pr …
Plasma and urinary steroid measurements are reported in 2 normotensive newborn female siblings with virilized external genitalia due to 1 …
Over 50 years of progress in the treatment of the hypertensive form of congenital adrenal hyperplasia due to steroid 11-beta-hydroxylase deficiency. Commentary on Simm PJ and Zacharin MR: Successful pregnancy in a patient with severe 11-beta-hydroxylase deficiency and novel mutations in CYP11B1 gene (Horm Res 2007;68:294-297).
Migeon CJ. Migeon CJ. Horm Res. 2007;68(6):298-9. doi: 10.1159/000107652. Epub 2007 Aug 27. Horm Res. 2007. PMID: 17726334 Review. No abstract available.
11-deoxycortisol in amniotic fluid: prenatal diagnosis of congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency.
Schumert Z, Rosenmann A, Landau H, Rösler A. Schumert Z, et al. Clin Endocrinol (Oxf). 1980 Mar;12(3):257-60. doi: 10.1111/j.1365-2265.1980.tb02708.x. Clin Endocrinol (Oxf). 1980. PMID: 6966984
Markedly elevated levels were found at term in amniotic fluid of two pregnancies with fetuses affected with 11 beta-hydroxylase deficiency, congenital adrenal hyperplasia (135.0 and 64.0 ng/ml respectively) as well as in the maternal serum of one of th …
Markedly elevated levels were found at term in amniotic fluid of two pregnancies with fetuses affected with 11 beta-hydroxy …
A pilot study for neonatal screening of congenital adrenal hyperplasia due to 21-hydroxylase and 11-beta-hydroxylase deficiency in Campania region.
Valentino R, Tommaselli AP, Rossi R, Lombardi G, Varrone S. Valentino R, et al. J Endocrinol Invest. 1990 Mar;13(3):221-5. doi: 10.1007/BF03349544. J Endocrinol Invest. 1990. PMID: 2365957
A neonatal screening for both 21-hydroxylase and 11-beta-hydroxylase deficiencies, responsible for congenital adrenal hyperplasia (CAH), has been conducted in Campania Region, Southern Italy. ...All results were compared with plasma 17OHP and S levels …
A neonatal screening for both 21-hydroxylase and 11-beta-hydroxylase deficiencies, responsible for congenital ad …
15 beta-hydroxylated steroids may be diagnostically misleading in confirming congenital adrenal hyperplasia suspected by a newborn screening programme.
Lange-Kubini K, Zachmann M, Kempken B, Torresani T. Lange-Kubini K, et al. Eur J Pediatr. 1996 Nov;155(11):928-31. doi: 10.1007/BF02282880. Eur J Pediatr. 1996. PMID: 8911890
Of 27, 11 were born at term (7 confirmed 21-hydroxylase deficiency, one 11 beta-hydroxylase deficiency). Out of 27, 16 were preterm newborns. Of them, only 2 were confirmed to have CAH (one 21-, one 11 beta-hydroxy …
Of 27, 11 were born at term (7 confirmed 21-hydroxylase deficiency, one 11 beta-hydroxylase def …