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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

Article

Select item 109257862.

Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency through molecular genetic analysis of the CYP21A2 gene

Ji-Hee Yoon, Soojin Hwang, Ja Hye Kim, Gu-Hwan Kim, Han-Wook Yoo, Jin-Ho Choi

Ann Pediatr Endocrinol Metab. 2024 Feb; 29(1): 54–59. Published online 2024 Feb 29. doi: 10.6065/apem.2346014.007

PMCID:: PMC10925786

Article PDF–224K

Select item 109097413.

Rare nonclassic type of Congenital adrenal hyperplasia due to 21-hydroxylase deficiency and genotype-phenotypic correlation

Yanru Hou, Yian Li, Jiajia Ai, Li Tian

Heliyon. 2024 Mar 15; 10(5): e27042. Published online 2024 Feb 24. doi: 10.1016/j.heliyon.2024.e27042

PMCID:: PMC10909741

Article PDF–4.9M

Select item 100648844.

Genetic and clinical characteristics including occurrence of testicular adrenal rest tumors in Slovak and Slovenian patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Robert Saho, Vita Dolzan, Mojca Zerjav Tansek, Andrea Pastorakova, Robert Petrovic, Maria Knapkova, Katarina Trebusak Podkrajsek, Jasna Suput Omladic, Sara Bertok, Magdalena Avbelj Stefanija, Primoz Kotnik, Tadej Battelino, Zuzana Pribilincova, Urh Groselj

Front Endocrinol (Lausanne) 2023; 14: 1134133. Published online 2023 Mar 17. doi: 10.3389/fendo.2023.1134133

PMCID:: PMC10064884

Article PDF–644K

Select item 99761585.

Rare Coexistence of Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency and Turner Syndrome: A Case Report and Brief Literature Review

Isabel Inácio, Joana Serra-Caetano, Rita Cardoso, Isabel Dinis, Alice Mirante

J Clin Res Pediatr Endocrinol. 2023 Mar; 15(1): 86–89. Published online 2023 Feb 27. doi: 10.4274/jcrpe.galenos.2021.2021.0174

PMCID:: PMC9976158

Article PDF–169K

Select item 99148796.

A Male Subject with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency Which Was Diagnosed at 31 Years Old due to Infertility

Hideaki Kaneto, Hayato Isobe, Junpei Sanada, Fuminori Tatsumi, Tomohiko Kimura, Masashi Shimoda, Shuhei Nakanishi, Kohei Kaku, Tomoatsu Mune

Diagnostics (Basel) 2023 Feb; 13(3): 505. Published online 2023 Jan 30. doi: 10.3390/diagnostics13030505

PMCID:: PMC9914879

Article PDF–692K

Select item 91301757.

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

Article PDF–553K

Select item 88187468.

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

Article PDF–752K

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

Article

Select item 854773210.

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

Article PDF–11M

Select item 852289511.

Classic Congenital Adrenal Hyperplasia Due To 21-hydroxylase Deficiency – the Next Disease Included in The Neonatal Screening Program in Poland

Maria Ginalska-Malinowska

Dev Period Med. 2018 Jun; 22(2): 197–200. Published online 2018 Jun 30. doi: 10.34763/devperiodmed.20182202.197200

PMCID:: PMC8522895

Article PDF–247K

Select item 801822212.

Quality of Life in Men With Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

Myrthe J. M. Verhees, Manon Engels, Paul N. Span, Fred C. G. J. Sweep, Antonius E. van Herwaarden, Henrik Falhammar, Anna Nordenström, Emma A. Webb, Annette Richter-Unruh, Claire Bouvattier, Aude Brac de la Perrière, Wiebke Arlt, Nicole Reisch, Birgit Köhler, Marion Rapp, Nike M. M. L. Stikkelbroeck, Nel Roeleveld, Hedi L. Claahsen-van der Grinten

Front Endocrinol (Lausanne) 2021; 12: 626646. Published online 2021 Mar 19. doi: 10.3389/fendo.2021.626646

PMCID:: PMC8018222

Article PDF–732K

Select item 780637213.

Genotype-Phenotype Correlation in Patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency in Cuba

Tania Mayvel Espinosa Reyes, Teresa Collazo Mesa, Paulina Arasely Lantigua Cruz, Adriana Agramonte Machado, Emma Domínguez Alonso, Henrik Falhammar

Int J Endocrinol. 2021; 2021: 9316284. Published online 2021 Jan 6. doi: 10.1155/2021/9316284

PMCID:: PMC7806372

Article PDF–503K

Select item 765388714.

Molecular diagnosis of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Tania Mayvel Espinosa Reyes, Teresa Collazo Mesa, Paulina Arasely Lantigua Cruz, Adriana Agramonte Machado, Emma Domínguez Alonso, Henrik Falhammar

BMC Endocr Disord. 2020; 20: 165. Published online 2020 Nov 9. doi: 10.1186/s12902-020-00643-z

PMCID:: PMC7653887

Article PDF–925K

Select item 757006515.

Update on the Swedish Newborn Screening for Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

Rolf H. Zetterström, Leif Karlsson, Henrik Falhammar, Svetlana Lajic, Anna Nordenström

Int J Neonatal Screen. 2020 Sep; 6(3): 71. Published online 2020 Aug 28. doi: 10.3390/ijns6030071

PMCID:: PMC7570065

Article PDF–675K

Select item 739292916.

Clinical outcomes and characteristics of P30L mutations in congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Mirjana Kocova, Violeta Anastasovska, Henrik Falhammar

Endocrine. 2020; 69(2): 262–277. Published online 2020 May 5. doi: 10.1007/s12020-020-02323-3

PMCID:: PMC7392929

Article PDF–1020K

Select item 734772317.

Genotype-phenotype correlations in children and adolescents with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Helmuth-Günther Dörr, Nadja Schulze, Markus Bettendorf, Gerhard Binder, Walter Bonfig, Christian Denzer, Desiree Dunstheimer, Kirsten Salzgeber, Heinrich Schmidt, Karl Otfried Schwab, Egbert Voss, Martin Wabitsch, Joachim Wölfle

Mol Cell Pediatr. 2020 Dec; 7: 8. Published online 2020 Jul 9. doi: 10.1186/s40348-020-00100-w