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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. The targeted NGS assay was sensitive to pick up all the mutations identified by ASPCR. ...One subject suspected for a Simple Virilizing …
Through these investigations, 88.7% of the subjects with 21 hydroxylase deficiency were positive for eight CYP21A2 mutations with ASP …
The molecular basis and genotype-phenotype correlations of congenital adrenal hyperplasia (CAH) in Anatolian population.
Dundar A, Bayramov R, Onal MG, Akkus M, Dogan ME, Kenanoglu S, Cerrah Gunes M, Kazimli U, Ozbek MN, Ercan O, Yildirim R, Celmeli G, Parlak M, Dundar I, Hatipoglu N, Unluhizarci K, Akalin H, Ozkul Y, Saatci C, Dundar M. Dundar A, et al. Mol Biol Rep. 2019 Aug;46(4):3677-3690. doi: 10.1007/s11033-019-04809-4. Epub 2019 Apr 20. Mol Biol Rep. 2019. PMID: 31006099
While classic form stands for the severe form, the non-classic form stands for the moderate and more frequent form of CAH. The enzyme deficiencies such as 21-hydroxylase, 11-beta-hydroxylase, 3-beta-hydroxysteroid dehydrogenase, 17-alpha-hydroxylase …
While classic form stands for the severe form, the non-classic form stands for the moderate and more frequent form of CAH. The enzyme def …
Genotype of congenital adrenal hyperplasia patients with testicular adrenal rest tumor.
Aycan Z, Keskin M, Lafcı NG, Savaş-Erdeve Ş, Baş F, Poyrazoğlu Ş, Öztürk P, Parlak M, Ercan O, Güran T, Hatipoğlu N, Uçaktürk SA, Çatlı G, Akyürek N, Önder A, Kılınç S, Çetinkaya S. Aycan Z, et al. Eur J Med Genet. 2022 Dec;65(12):104654. doi: 10.1016/j.ejmg.2022.104654. Epub 2022 Nov 4. Eur J Med Genet. 2022. PMID: 36343887
RESULTS: TART was detected in 17.4% of the cohort [24 patients with salt-wasting (SW) type, four simple virilizing type, and one with nonclassical type with 21-hydroxylase (CYP21A2) deficiency and 11 patients with 11-beta hydroxylase (CYP11B1) defic …
RESULTS: TART was detected in 17.4% of the cohort [24 patients with salt-wasting (SW) type, four simple virilizing type, and one with noncla …
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 beta …
Based on the author's experience, prenatal diagnosis and treatment of 21-hydroxylase deficiency is safe and effective in significantl …
Challenges in the treatment of late-identified untreated congenital adrenal hyperplasia due to CYP11B1 deficiency: Lessons from a developing country.
Utari A, Faradz SMH, Ediati A, Rinne T, Ariani MD, Juniarto AZ, Drop SLS, van Herwaarden AE, Claahsen-van der Grinten HL. Utari A, et al. Front Endocrinol (Lausanne). 2022 Dec 15;13:1015973. doi: 10.3389/fendo.2022.1015973. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 36589846 Free PMC article.
BACKGROUND: Congenital Adrenal Hyperplasia (CAH) due to CYP11B1 is a rare autosomal recessive adrenal disorder that causes a decrease in cortisol production and accumulation of adrenal androgens and steroid precursors with mineralocorticoid activity. Clinical manifestation …
BACKGROUND: Congenital Adrenal Hyperplasia (CAH) due to CYP11B1 is a rare autosomal recessive adrenal disorder that causes a decrease in cor …
Update on the prenatal diagnosis and treatment of congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.
Motaghedi R, Betensky BP, Slowinska B, Cerame B, Cabrer M, New MI, Wilson RC. Motaghedi R, et al. J Pediatr Endocrinol Metab. 2005 Feb;18(2):133-42. doi: 10.1515/jpem.2005.18.2.133. J Pediatr Endocrinol Metab. 2005. PMID: 15751602
11beta-Hydroxylase deficiency is a common form of congenital adrenal hyperplasia causing virilization of the female fetus and hypertension. ...We now report five new pregnancies that underwent prenatal diagnosis for 11beta-hydroxylase deficiency. In the first family …
11beta-Hydroxylase deficiency is a common form of congenital adrenal hyperplasia causing virilization of the female fetus and hyperte …
Diagnosis and management of congenital adrenal hyperplasia.
New MI. New MI. Annu Rev Med. 1998;49:311-28. doi: 10.1146/annurev.med.49.1.311. Annu Rev Med. 1998. PMID: 9509266
The enzymes most often affected are 21-hydroxylase, 11 beta-hydroxylase, and 3 beta-hydroxysteroid dehydrogenase, and less often, 17 alpha-hydroxylase/17, 20-lyase and cholesterol desmolase. ...The elevated adrenocorticotropic hormone stimulates both the accu …
The enzymes most often affected are 21-hydroxylase, 11 beta-hydroxylase, and 3 beta-hydroxysteroid dehydrogenase, and l …
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 CAH) in 7 fet …
Hormonal measurements in maternal urine and amniotic fluid (AF) during pregnancy and/or at delivery correctly predicted the postnatal diagno …
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.
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