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Select item 29360601.

Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline

Phyllis W. Speiser, Ricardo Azziz, Laurence S. Baskin, Lucia Ghizzoni, Terry W. Hensle, Deborah P. Merke, Heino F. L. Meyer-Bahlburg, Walter L. Miller, Victor M. Montori, Sharon E. Oberfield, Martin Ritzen, Perrin C. White

J Clin Endocrinol Metab. 2010 Sep; 95(9): 4133–4160. doi: 10.1210/jc.2009-2631

Correction in:: J Clin Endocrinol Metab. November 1, 2010; 95(11): 5137.

PMCID:: PMC2936060

Abstract Article

Select item 31612122.

Pharmacogenetics of glucocorticoid replacement could optimize the treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Ricardo P. P. Moreira, Alexander A. L. Jorge, Larissa G. Gomes, Laura C. Kaupert, João Massud Filho, Berenice B. Mendonca, Tânia A. S. S. Bachega

Clinics (Sao Paulo) 2011 Aug; 66(8): 1361–1365. doi: 10.1590/S1807-59322011000800009

PMCID:: PMC3161212

Abstract Article PDF–131K

Select item 36515853.

Genotype-Phenotype Correlation in 153 Adult Patients With Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: Analysis of the United Kingdom Congenital Adrenal Hyperplasia Adult Study Executive (CaHASE) Cohort

Nils Krone, Ian T. Rose, Debbie S. Willis, James Hodson, Sarah H. Wild, Emma J. Doherty, Stefanie Hahner, Silvia Parajes, Roland H. Stimson, Thang S. Han, Paul V. Carroll, Gerry S. Conway, Brian R. Walker, Fiona MacDonald, Richard J. Ross, Wiebke Arlt, for the United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE)

J Clin Endocrinol Metab. 2013 Feb; 98(2): E346–E354. Published online 2013 Jan 21. doi: 10.1210/jc.2012-3343

PMCID:: PMC3651585

Abstract Article

Select item 35842734.

Mineralocorticoid replacement during infancy for salt wasting congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Larissa G. Gomes, Guiomar Madureira, Berenice B. Mendonca, Tania A. S. S. Bachega

Clinics (Sao Paulo) 2013 Feb; 68(2): 147–151. doi: 10.6061/clinics/2013(02)OA05

PMCID:: PMC3584273

Abstract Article PDF–313K

Select item 35774555.

Rare and severe complications of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a case report

Florbela Ferreira, João Martin Martins, Sónia do Vale, Rui Esteves, Garção Nunes, Isabel do Carmo

J Med Case Rep. 2013; 7: 39. Published online 2013 Feb 6. doi: 10.1186/1752-1947-7-39

PMCID:: PMC3577455

Abstract Article PDF–402K

Select item 35372896.

A Rare Combination: Congenital Adrenal Hyperplasia Due To 21 Hydroxylase Deficiency and Turner Syndrome

Havva Nur Peltek Kendirci, Zehra Aycan, Semra Çetinkaya, Veysel Nijat Baş, Sebahat Yılmaz Ağladıoğlu, Aşan Önder

J Clin Res Pediatr Endocrinol. 2012 Dec; 4(4): 213–215. Published online 2012 Dec 19. doi: 10.4274/Jcrpe.767

PMCID:: PMC3537289

Abstract Article PDF–129K

Select item 35109647.

Metabolic profile and cardiovascular risk factors in adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Mouna Feki Mnif, Mahdi Kamoun, Fatma Mnif, Nadia Charfi, Basma Ben Naceur, Nozha Kallel, Nabila Rekik, Zainab Mnif, Mohamed Habib Sfar, Mohamed Tahar Sfar, Mongia Hachicha, Mohamed Abid

Indian J Endocrinol Metab. 2012 Nov-Dec; 16(6): 939–946. doi: 10.4103/2230-8210.102995

PMCID:: PMC3510964

Abstract Article PDF–711K

Select item 34937428.

Complement Component 4 Copy Number Variation and CYP21A2 Genotype Associations in Patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Wuyan Chen, Zhi Xu, Miki Nishitani, Carol Van Ryzin, Nazli B. McDonnell, Deborah P. Merke

Hum Genet. Author manuscript; available in PMC 2012 Dec 1.

Published in final edited form as: Hum Genet. 2012 Dec; 131(12): 1889–1894. Published online 2012 Aug 12. doi: 10.1007/s00439-012-1217-8

PMCID:: PMC3493742

Abstract Article PDF–672K

Select item 87643439.

Characteristics of Growth in Children With Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency During Adrenarche and Beyond

Tobias Troger, Grit Sommer, Mariarosaria Lang-Muritano, Daniel Konrad, Beatrice Kuhlmann, Urs Zumsteg, Christa E Flück

J Clin Endocrinol Metab. 2022 Feb; 107(2): e487–e499. Published online 2021 Oct 2. doi: 10.1210/clinem/dgab701

PMCID:: PMC8764343

Abstract Article

Select item 881874610.

Characteristics of In2G Variant in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

Mirjana Kocova, Paola Concolino, Henrik Falhammar

Front Endocrinol (Lausanne) 2021; 12: 788812. Published online 2022 Jan 24. doi: 10.3389/fendo.2021.788812

PMCID:: PMC8818746

Abstract Article PDF–752K

Select item 338340011.

Cognitive Outcome of Offspring from Dexamethasone-Treated Pregnancies at Risk for Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

Heino F. L. Meyer-Bahlburg, Curtis Dolezal, Rita Haggerty, Michael Silverman, Maria I. New

Eur J Endocrinol. Author manuscript; available in PMC 2013 Jul 1.

Published in final edited form as: Eur J Endocrinol. 2012 Jul; 167(1): 103–110. Published online 2012 May 1. doi: 10.1530/EJE-11-0789

PMCID:: PMC3383400

Abstract Article PDF–53K

Select item 320704812.

Relationships of Basal Level of Serum 17-Hydroxyprogesterone with that of Serum Androstenedione and Their Stimulated Responses to a Low Dose of ACTH in Young Adult Patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Min Jae Kang, Shin Mi Kim, Young Ah Lee, Choong Ho Shin, Sei Won Yang

J Korean Med Sci. 2011 Nov; 26(11): 1454–1460. Published online 2011 Oct 27. doi: 10.3346/jkms.2011.26.11.1454

PMCID:: PMC3207048

Abstract Article PDF–457K

Select item 854773213.

Long-Term Health Outcomes of Korean Adults With Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

Seung Gyun Lim, Young Ah Lee, Han Na Jang, Sung Hye Kong, Chang Ho Ahn, Sang Wan Kim, Choong Ho Shin, Jung Hee Kim

Front Endocrinol (Lausanne) 2021; 12: 761258. Published online 2021 Oct 12. doi: 10.3389/fendo.2021.761258

PMCID:: PMC8547732

Abstract Article PDF–11M

Select item 311371214.

Normal sex differences in prenatal growth and abnormal prenatal growth retardation associated with 46,XY disorders of sex development are absent in newborns with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Laura J Chalmers, Paul Doherty, Claude J Migeon, Kenneth C Copeland, Brianna C Bright, Amy B Wisniewski

Biol Sex Differ. 2011; 2: 5. Published online 2011 May 5. doi: 10.1186/2042-6410-2-5

PMCID:: PMC3113712

Abstract Article PDF–264K

Select item 305366615.

Prenatal diagnosis of a heterozygote of salt wasting congenital adrenal hyperplasia due to 21-hydroxylase deficiency by genetic linkage analysis.

B. H. Oh, J. K. Park, Y. M. Choi, I. M. Yang, Y. S. Kim, Y. K. Choi

J Korean Med Sci. 1988 Jun; 3(2): 73–77. doi: 10.3346/jkms.1988.3.2.73

PMCID:: PMC3053666

Summary PDF–7.0M

Select item 303849016.

Comprehensive Genetic Analysis of 182 Unrelated Families with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Gabriela P. Finkielstain, Wuyan Chen, Sneha P. Mehta, Frank K. Fujimura, Reem M. Hanna, Carol Van Ryzin, Nazli B. McDonnell, Deborah P. Merke

J Clin Endocrinol Metab. 2011 Jan; 96(1): E161–E172. Published online 2010 Oct 6. doi: 10.1210/jc.2010-0319

PMCID:: PMC3038490

Abstract Article

Select item 913017517.

Molecular analysis and genotype-phenotype correlations in patients with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency from southern Poland — experience of a clinical center

Anna Kurzyńska, Anna Skalniak, Kim Franson, Viola Bistika, Alicja Hubalewska-Dydejczyk, Elwira Przybylik-Mazurek

Hormones (Athens) 2022; 21(2): 241–249. Published online 2022 Jan 26. doi: 10.1007/s42000-022-00348-z

PMCID:: PMC9130175

Abstract Article PDF–553K

Select item 296312218.

Long-Term Gynecological Outcomes in Women with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

T. H. Johannsen, C. P. L. Ripa, E. Carlsen, J. Starup, O. H. Nielsen, M. Schwartz, K. T. Drzewiecki, E. L. Mortensen, K. M. Main

Int J Pediatr Endocrinol. 2010; 2010: 784297. Published online 2010 Oct 20. doi: 10.1155/2010/784297

PMCID:: PMC2963122

Abstract Article PDF–607K

Select item 284289819.

An Evidence-Based Model of Multidisciplinary Care for Patients and Families Affected by Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Traci L. Schaeffer, Jeanie B. Tryggestad, Ashwini Mallappa, Adam E. Hanna, Sowmya Krishnan, Steven D. Chernausek, Laura J. Chalmers, William G. Reiner, Brad P. Kropp, Amy B. Wisniewski

Int J Pediatr Endocrinol. 2010; 2010: 692439. Published online 2010 Mar 18. doi: 10.1155/2010/692439

PMCID:: PMC2842898

Abstract Article PDF–554K

Select item 282164320.

Blood Pressure and Left Ventricular Characteristics in Young Patients with Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Graziamaria Ubertini, Carla Bizzarri, Armando Grossi, Fabrizio Gimigliano, Lucilla Ravà, Danilo Fintini, Marco Cappa

Int J Pediatr Endocrinol. 2009; 2009: 383610. Published online 2010 Feb 7. doi: 10.1155/2009/383610

PMCID:: PMC2821643

Abstract Article PDF–517K

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