Works matching DE "ADRENOGENITAL syndrome"

Results: 1623

Erratum.

Published in:: 2025
Publication type:: Correction Notice

National Service Evaluation of the Quality of Care for Children and Young People with Congenital Adrenal Hyperplasia in the UK: Survey Responses from Patients and Clinicians.

Published in:

Hormone Research in Paediatrics, 2025, v. 98, n. 3, p. 296, doi. 10.1159/000537978

By:

Lawrence, Neil R.;
Bacila, Irina A.;
Collins, Gary S.;
Dawson, Jeremy;
Lang, Zi-Qiang;
Ji, Xiaochen;
Ahmed, S. Faisal;
Alvi, Sabah;
Bath, Louise Eleanor;
Blair, Joanne;
Cheetham, Tim;
Crowne, Elizabeth Clare;
Davies, Justin H.;
Dattani, Mehul;
Gevers, Evelien F.;
Krone, Ruth;
Patel, Leena;
Thankamony, Ajay;
Randell, Tabitha;
Ryan, Fiona

Publication type:

Article

Blood pressure and its associations in 554 children and young people with congenital adrenal hyperplasia Open Access.

Published in:

European Journal of Endocrinology, 2025, v. 192, n. 5, p. 529, doi. 10.1093/ejendo/lvaf060

By:

Lawrence, Neil R;
Bacila, Irina;
Tonge, Joseph;
Dawson, Jeremy;
Collins, Gary S;
Lang, Zi-Qiang;
Bryce, Jillian;
Alimussina, Malika;
Chen, Minglu;
Ali, Salma Rashid;
Adam, Safwaan;
Akker, Erica L T van den;
Bachega, Tânia Aparecida Sartori Sanchez;
Baronio, Federico;
Birkebæk, Niels Holtum;
Bonfig, Walter;
Grinten, Hedi Claahsen - van der;
Cools, Martine;
Costa, Eduardo Correa;
Debono, Miguel

Publication type:

Article

Free Cortisol and Free 21-Deoxycortisol in the Clinical Evaluation of Congenital Adrenal Hyperplasia Open Access.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2025, v. 110, n. 5, p. e1334, doi. 10.1210/clinem/dgae591

By:

Adriaansen, Bas P H;
Utari, Agustini;
Olthaar, André J;
Steen, Rob C B M van der;
Pijnenburg-Kleizen, Karijn J;
Berkenbosch, Lizanne;
Span, Paul N;
Sweep, Fred C G J;
Grinten, Hedi L Claahsen-van der;
Herwaarden, Antonius E van

Publication type:

Article

Clinical and Genetic Analyses of Two Unrelated 46,XX Girls with Combined 17α-hydroxylase/17,20-lyase Deficiency from China.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2025, v. 17, n. 2, p. 211, doi. 10.4274/jcrpe.galenos.2023.2022-8-7

By:

Yamei Li;
Ting Han;
Yingxia Wang;
Jie Gao;
Jianglin Zhang;
Yinglan Wu

Publication type:

Article

Game Changers: Blockbuster Small-Molecule Drugs Approved by the FDA in 2024.

Published in:

Pharmaceuticals (14248247), 2025, v. 18, n. 5, p. 729, doi. 10.3390/ph18050729

By:

Wang, Zhonglei;
Sun, Xin;
Sun, Mingyu;
Wang, Chao;
Yang, Liyan

Publication type:

Article

Ambiguous genitalia in neonates: a 4-year prospective study in a localized area.

Published in:

Eastern Mediterranean Health Journal, 2010, v. 16, n. 2, p. 214, doi. 10.26719/2010.16.2.214

By:

Al-Mulhim, A. N.;
Kamal, H. M.

Publication type:

Article

Stroke in Young Heralding the Diagnosis of Congenital Adrenal Hyperplasia.

Published in:

2020

By:

Das, Liza;
Jain, Nimisha;
Aggarwal, Anshita;
Dutta, Pinaki;
Bhansali, Anil

Publication type:

Letter

Sperm retrieval and concomitant tumor resection in azoospermic men with congenital adrenal hyperplasia and bilateral testicular adrenal rest tumors: a case report.

Published in:

Journal of Assisted Reproduction & Genetics, 2016, v. 33, n. 4, p. 545, doi. 10.1007/s10815-016-0665-9

By:

Kavoussi, Parviz;
Summers-Colquitt, Roxanne;
Odenwald, Kate;
Kressin, Megan;
Kavoussi, Keikhosrow;
Pool, Thomas;
Kavoussi, Shahryar

Publication type:

Article

Genotyping of congenital adrenal hyperplasia due to 21-hydroxylase deficiency presenting as male infertility: Case report and literature review.

Published in:

Journal of Assisted Reproduction & Genetics, 2006, v. 23, n. 9/10, p. 377, doi. 10.1007/s10815-006-9062-0

By:

Sugino, Y.;
Usui, T.;
Okubo, K.;
Nagahama, K.;
Takahashi, T.;
Okuno, H.;
Hatayama, H.;
Ogawa, O.;
Shimatsu, A.;
Nishiyama, H.

Publication type:

Article

Successful antenatal treatment of an affected congenital adrenal hyperplasia pregnancy using linkage analysis.

Published in:

Australian & New Zealand Journal of Obstetrics & Gynaecology, 2004, v. 44, n. 4, p. 369, doi. 10.1111/j.1479-828X.2004.00253.x

By:

Day, Darren J.;
Fitness, Jodene E.;
Milsom, Stella

Publication type:

Article

Tailor treatment to the patient in polycystic ovary syndrome.

Published in:

Practitioner, 2020, v. 264, n. 1835, p. 11

By:

Howie, Ruth;
Duncan, W. Colin

Publication type:

Article

Normal bone health in young adults with 21-hydroxylase enzyme deficiency undergoing glucocorticoid replacement therapy.

Published in:

Osteoporosis International, 2022, v. 33, n. 1, p. 283, doi. 10.1007/s00198-021-06097-w

By:

Borges, Juliano Henrique;
de Oliveira, Daniel Minutti;
de Lemos-Marini, Sofia Helena Valente;
Geloneze, Bruno;
Guerra-Júnior, Gil;
Gonçalves, Ezequiel Moreira

Publication type:

Article

Real-world impact of glucocorticoid replacement therapy on bone mineral density: retrospective experience of a large single-center CAH cohort spanning 24 years.

Published in:

Osteoporosis International, 2020, v. 31, n. 5, p. 905, doi. 10.1007/s00198-019-05268-0

By:

Iervolino, L. L.;
Ferraz-de-Souza, B.;
Martin, R. M.;
Costa, F. C.;
Miranda, M. C.;
Mendonça, B. B.;
Bachega, T. S.

Publication type:

Article

Frequency of CYP21 Gene Mutations in Czech Patients with Steroid 21-Hydroxylase Deficiency and Statistical Comparison with Other Populations.

Published in:

Medical Principles & Practice, 2003, v. 12, n. 4, p. 243, doi. 10.1159/000072291

By:

Kotaška, Karel;
Průš, Richard

Publication type:

Article

Evidence for Adverse Effects of High-Dose GC Treatment of Congenital Adrenal Hyperplasia Broadened, Deepened in New Literature Review.

Published in:

Patient Care (Online), 2025, p. N.PAG

By:

Halsey, Grace

Publication type:

Article

Crinecerfont Reduces GC Dosing, Improves Androstenedione Levels Across Multiple Pediatric Subgroups.

Published in:

Patient Care (Online), 2025, p. N.PAG

By:

Halsey, Grace

Publication type:

Article

CAH Update: High-Level Examination of Condition Published in Expert Review of Endocrinology & Metabolism, Neurocrine Announces.

Published in:

2025

By:

Halsey, Grace

Publication type:

Case Study

Atumelnant Demonstrates Rapid and Sustained Biomarker Reduction in Phase 2 Trial in Adults with Congenital Adrenal Hyperplasia.

Published in:

Patient Care (Online), 2025, p. 5

By:

Halsey, Grace

Publication type:

Article

New Treatment Approved for Congenital Adrenal Hyperplasia: Daily Dose.

Published in:

Patient Care (Online), 2024, p. 4

By:

Jennings, Sydney

Publication type:

Article

Crinecerfont for Congenital Adrenal Hyperplasia Now Commercially Available, Neurocrine Biosciences Announces.

Published in:

Patient Care (Online), 2024, p. 19

By:

Halsey, Grace

Publication type:

Article

FDA Approves Crinecerfont for Congenital Adrenal Hyperplasia in Adults and Children in Landmark Decision.

Published in:

Patient Care (Online), 2024, p. 9

By:

Halsey, Grace

Publication type:

Article

Expert Perspectives 2024: Breakthrough Therapy for Congenital Adrenal Hyperplasia with PI Richard Auchus, MD, PhD.

Published in:

Patient Care (Online), 2024, p. 5

By:

Auchus, Richard J.

Publication type:

Article

Richard J Auchus, MD, PhD, Details Pivotal Phase 3 Trial That Supported FDA Approval of Crinecerfont for Congenital Adrenal Hyperplasia.

Published in:

Patient Care (Online), 2024, p. 1

By:

Auchus, Richard J.

Publication type:

Article

Congenital Adrenal Hyperplasia Management Across the Lifespan.

Published in:

Patient Care (Online), 2024, p. 1

By:

Halsey, Grace

Publication type:

Article

Congenital Adrenal Hyperplasia Management Across the Lifespan.

Published in:

Patient Care (Online), 2024, p. 1

By:

Halsey, Grace

Publication type:

Article

Crinecerfont Could Help Improve Physical, Emotional Health for Individuals with CAH.

Published in:

Patient Care (Online), 2024, p. 1

By:

Halsey, Grace

Publication type:

Article

A Primer on Congenital Adrenal Hyperplasia with Expert Steroid Biologist Richard Auchus, MD, PhD.

Published in:

Patient Care (Online), 2024, p. 16

By:

Halsey, Grace

Publication type:

Article

Androgen Management in Congenital Adrenal Hyperplasia: A Primer.

Published in:

Patient Care (Online), 2024, p. 16

By:

Halsey, Grace

Publication type:

Article

Management of Congenital Adrenal Hyperplasia in Adults: Challenges with Standard of Care.

Published in:

Patient Care (Online), 2024, p. 8

By:

Halsey, Grace

Publication type:

Article

Emerging Therapies in Management of Congenital Adrenal Hyperplasia.

Published in:

Patient Care (Online), 2024, p. 3

By:

Halsey, Grace

Publication type:

Article

Treating Congenital Adrenal Hyperplasia: Challenges in the Transition to Adult Care.

Published in:

Patient Care (Online), 2024, p. 34

By:

Halsey, Grace

Publication type:

Article

Monitoring Glucocorticoid Therapy in CAH: Timing, Timing, Timing.

Published in:

Patient Care (Online), 2024, p. 16

By:

Halsey, Grace

Publication type:

Article

Neurocrine Biosciences CAHtalyst Adult Phase 3 Clinical Trial Meets All Endpoints in Congenital Adrenal Hyperplasia, Published in NEJM.

Published in:

Patient Care (Online), 2024, p. 1

By:

Halsey, Grace

Publication type:

Article

Congenital Adrenal Hyperplasia and Testicular Adrenal Rest Tumors Causing Infertility and Detected by 18F-FDG PET/CT.

Published in:

Bulletin of Urooncology, 2023, v. 22, n. 2, p. 80, doi. 10.4274/uob.galenos.2023.2022.12.1

By:

Yakut, Emrah

Publication type:

Article

Assessment of Long-Read Sequencing-Based Congenital Adrenal Hyperplasia Genotyping Assay for Newborns in Fujian, China.

Published in:

International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 1, p. 22, doi. 10.3390/ijns11010022

By:

Wang, Xudong;
Lu, Xingxiu;
Zheng, Faming;
Lin, Kun;
Liao, Minjuan;
Dong, Yi;
Chen, Tiantian;
He, Ying;
Lu, Mei;
Chen, Jing;
Li, Yanfang;
Zhou, Yulin

Publication type:

Article

Seventh ISNS Reference Preparation for Neonatal Screening for Thyroid Stimulating Hormone, Phenylalanine, and 17α-Hydroxyprogesterone in Blood Spots.

Published in:

International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 1, p. 13, doi. 10.3390/ijns11010013

By:

Schielen, Peter C. J. I.;
Webster, Dianne;
Loeber, J. Gerard;
Bonham, James R.

Publication type:

Article

Newborn Screening for Six Primary Conditions in a Clinical Setting in Morocco.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 4, p. 80, doi. 10.3390/ijns10040080

By:

El Janahi, Sara;
Filali, Mounir;
Boudar, Zakia;
Akhattab, Amina;
El Jaoudi, Rachid;
Al Idrissi, Najib;
Dini, Nouzha;
Nejjari, Chakib;
Yahyaoui, Raquel;
Lloyd-Puryear, Michele A.;
Ghazal, Hassan

Publication type:

Article

The Value of Reducing Inconclusive and False-Positive Newborn Screening Results for Congenital Hypothyroidism, Congenital Adrenal Hyperplasia and Maple Syrup Urine Disease in The Netherlands.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 4, p. 70, doi. 10.3390/ijns10040070

By:

Martens, Rosalie C.;
Boelen, Anita;
van der Kemp, Michèle H.;
Bosch, Annet M.;
Berghout, Eveline M.;
Weijman, Gert;
Zwaveling-Soonawala, Nitash;
Verschoof-Puite, Rendelien K.;
de Jonge, Robert;
Hannema, Sabine E.;
Bosmans, Judith E.;
Heijboer, Annemieke C.

Publication type:

Article

Managing Newborn Screening Repeat Collections for Sick and Preterm Neonates.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 3, p. 63, doi. 10.3390/ijns10030063

By:

Greaves, Ronda F.;
Northfield, Jo-Ann;
Cross, Lauren;
Mawad, Nazha;
Nguyen, Thanh;
Tan, Maggie;
O'Connell, Michele A.;
Pitt, James

Publication type:

Article

Best Practice for Identification of Classical 21-Hydroxylase Deficiency Should Include 21 Deoxycortisol Analysis with Appropriate Isomeric Steroid Separation.

Published in:

International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 4, p. 58, doi. 10.3390/ijns9040058

By:

Greaves, Ronda F.;
Kumar, Monish;
Mawad, Nazha;
Francescon, Alberto;
Le, Chris;
O'Connell, Michele;
Chi, James;
Pitt, James

Publication type:

Article

Differences in Hyperandrogenism Related to Early Detection of Non-Classical Congenital Adrenal Hyperplasia on Second Newborn Screen.

Published in:

International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 3, p. 50, doi. 10.3390/ijns9030050

By:

McCann-Crosby, Bonnie;
Liang, Mark C.;
Geffner, Mitchell E.;
Koppin, Christina M.;
Fraga, Nicole R.;
Sutton, V. Reid;
Karaviti, Lefkothea P.;
Bhullar, Gagandeep;
Kim, Mimi S.

Publication type:

Article

Neonatal Screening for Congenital Adrenal Hyperplasia in Indian Newborns with Reflex Genetic Analysis of 21-Hydroxylase Deficiency.

Published in:

International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 1, p. 9, doi. 10.3390/ijns9010009

By:

Tippabathani, Jayakrishna;
Seenappa, Venu;
Murugan, Alagupandian;
Phani, Nagaraja Mahishi;
Hampe, Mahesh H.;
Appaswamy, Giridharan;
Sadashiv Gambhir, Prakash

Publication type:

Article

Evaluation of a New Laboratory Protocol for Newborn Screening for Congenital Adrenal Hyperplasia in New Zealand.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 4, p. 56, doi. 10.3390/ijns8040056

By:

de Hora, Mark R.;
Heather, Natasha L.;
Webster, Dianne R.;
Albert, Benjamin B.;
Hofman, Paul L.

Publication type:

Article

Multiple 17-OHP Cutoff Co-Variates Fail to Improve 21-Hydroxylase Deficiency Screening Accuracy.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 4, p. 57, doi. 10.3390/ijns8040057

By:

Matharu, Preet K.;
Held, Patrice K.;
Allen, David B.

Publication type:

Article

Evaluation of final heights in patients with congenital adrenal hyperplasia.

Published in:

Pamukkale Medical Journal, 2024, v. 17, n. 2, p. 265, doi. 10.31362/patd.1366476

By:

Kurtipek, Fatma Burçin;
Bayramoğlu, Elvan;
Keskin, Melikşah;
Aycan, Zehra

Publication type:

Article

Clinical and Genetic Characteristics of Patients with Common and Rare Types of Congenital Adrenal Hyperplasia: Novel Variants in STAR and CYP17A1.

Published in:

Medical Bulletin of Sisli Etfal Hospital, 2022, v. 56, n. 2, p. 291, doi. 10.14744/SEMB.2021.28044

By:

Koprulu, Ozge;
Ozkan, Behzat;
Acar, Sezer;
Nalbantoglu, Ozlem;
Donmez, Beyhan Ozkaya;
Arslan, Gulcin;
Hazan, Filiz;
Gursoy, Semra

Publication type:

Article

Women With Congenital Adrenal Hyperplasia Have Favorable Pregnancy Outcomes but Prolonged Time to Conceive.

Published in:

Journal of the Endocrine Society, 2025, v. 9, n. 1, p. 1, doi. 10.1210/jendso/bvae211

By:

Auer, Matthias K;
Minea, Clara E;
Quinkler, Marcus;
Bancos, Irina;
Beuschlein, Felix;
Meyer, Gesine;
Lottspeich, Christian;
Bidlingmaier, Martin;
Rieger, Eva;
Nowotny, Hanna F;
Tschaidse, Lea;
Falhammar, Henrik;
Pivonello, Rosario;
Simeoli, Chiara;
Reisch, Nicole

Publication type:

Article

In Memoriam: Maria Iandolo New, 1928-2024.

Published in:

Journal of the Endocrine Society, 2024, v. 8, n. 12, p. 1, doi. 10.1210/jendso/bvae167

By:

Speiser, Phyllis W;
Auchus, Richard J;
White, Perrin C

Publication type:

Article

Temporal Trends in Acute Adrenal Insufficiency Events in Children With Congenital Adrenal Hyperplasia During 2019-2022.

Published in:

Journal of the Endocrine Society, 2024, v. 8, n. 10, p. 1, doi. 10.1210/jendso/bvae145

By:

Tseretopoulou, Xanthippi;
Ali, Salma R;
Bryce, Jillian;
Amin, Nadia;
Atapattu, Navoda;
Bachega, Tania A S S;
Baronio, Federico;
Ortolano, Rita;
Birkebaek, Niels H;
Bonfig, Walter;
Cools, Martine;
Davies, Justin H;
Thomas, Tessy;
Vries, Liat de;
Elsedfy, Heba;
Amr, Nermine H;
Flueck, Christa E;
Globa, Evgenia;
Guran, Tulay;
Yavas-Abali, Zehra

Publication type:

Article