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
Krone, Nils, Rose, Ian T., Willis, Debbie S., Hodson, James, Wild, Sarah H., Doherty, Emma J., Hahner, Stefanie, Parajes, Silvia, Stimson, Roland H., Han, Thang S., Carroll, Paul V., Conway, Gerry S., Walker, Brian R., MacDonald, Fiona, Ross, Richard J., Arlt, Wiebke, for the United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE)·2013·The Journal of Clinical Endocrinology & Metabolism
Cited by (119)
Items 101–119 of 119
- Update on prenatal diagnosis and treatment of congenital adrenal hyperplasiaAnnelies van’t Westeinde, Anna Nordenström, Svetlana Lajić · 2024 · Elsevier eBooks
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- One Case of Congenital Adrenal Hyperplasia 21-Hydroxylase Deficiency in Very Premature Infants and Literature Review涵 邵 · 2025 · Advances in Clinical Medicine
- Genotype–Phenotype Correlation and Mutational Burden in Colombian Patients with Congenital Adrenal HyperplasiaAna M. Perilla-Espinal, Valentina Zapata-López, Sofía Villada-Montoya, Carolina Jaramillo-Arango, Jennyfer Monroy-Espejo, Carolina Baquero Montoya, Cruz Eugenia Zabala-Granda, Carolina Prieto, Gustavo A. Giraldo Ospina, Clara María Arango Toro et al. · 2025 · medRxiv
- Comprehensive characterization of 21-hydroxylase deficiency in a Chinese pediatric cohort: phenotype, steroid profiles and geneticsHemeng Chong, Guocui Xue, Yalei Pi, Yanan Zhang, Yuqian Li, Yutong Xing, Baorong Chen, Huifeng Zhang · 2025 · Frontiers in Endocrinology
- Additional file 4 of Genetic aetiology of primary adrenal insufficiency in Chinese childrenZhuo Chang, Lu, Wei, 赵诸慧, Xi, Li, Li, Xiaojing, Ye, Rong, 倪锦文, Pei Zhou, Zhang, Miaoying, Cheng, Ruoqian et al. · 2021 · Figshare
- Additional file 3 of Genetic aetiology of primary adrenal insufficiency in Chinese childrenZhuo Chang, Lu, Wei, 赵诸慧, Xi, Li, Li, Xiaojing, Ye, Rong, 倪锦文, Pei Zhou, Zhang, Miaoying, Cheng, Ruoqian et al. · 2021 · Figshare
- Additional file 1 of Genetic aetiology of primary adrenal insufficiency in Chinese childrenZhuo Chang, Lu, Wei, 赵诸慧, Xi Li, Li, Xiaojing, Ye, Rong, 倪锦文, Pei Zhou, Zhang, Miaoying, Cheng, Ruoqian et al. · 2021 · Figshare
- Additional file 7 of Genetic aetiology of primary adrenal insufficiency in Chinese childrenZhuo Chang, Lu, Wei, 赵诸慧, Xi, Li, Li, Xiaojing, Ye, Rong, 倪锦文, Pei Zhou, Zhang, Miaoying, Cheng, Ruoqian et al. · 2021 · Figshare
- Additional file 6 of Genetic aetiology of primary adrenal insufficiency in Chinese childrenZhuo Chang, Lu, Wei, 赵诸慧, Xi Li, Li, Xiaojing, Ye, Rong, 倪锦文, Pei Zhou, Zhang, Miaoying, Cheng, Ruoqian et al. · 2021 · Figshare
- Additional file 2 of Genetic aetiology of primary adrenal insufficiency in Chinese childrenZhuo Chang, Lu, Wei, 赵诸慧, Xi, Li, Li, Xiaojing, Ye, Rong, 倪锦文, Pei Zhou, Zhang, Miaoying, Cheng, Ruoqian et al. · 2021 · Figshare
- Additional file 5 of Genetic aetiology of primary adrenal insufficiency in Chinese childrenZhuo Chang, Lu, Wei, 赵诸慧, Xi, Li, Li, Xiaojing, Ye, Rong, 倪锦文, Pei Zhou, Zhang, Miaoying, Cheng, Ruoqian et al. · 2021 · Figshare
- Post-ACTH peak cortisol response is associated with genotype in children with nonclassic congenital adrenal hyperplasiaAllie N. Dayno, Marissa J. Kilberg, Erin Gonter, Robert Gallop, Jacob Squicciarini, Carolina Montaño, Maria G. Vogiatzi · 2026 · Frontiers in Endocrinology
- Rare Causes of Pediatric Primary Adrenal Insufficiency: An Observational Cohort StudyMathilde Schermesser-Sicard, Dinane Samara‐Boustani, Florence Roucher‐Boulez, Graziella Pinto, Jean‐Claude Carel, Adrien Nguyen Quoc, Gaëlle Vermillac, Sibylle Rovani, Caroline Thalassinos, Sabrina Costa et al. · 2026 · Endocrine Practice
- Neuroendocrine basis of affective behavior: what we can learn from differences in sex development (DSD)Viviana Verde, Hannah Wörther, Annika Kühle, Paula Grunwald, Lea Tschaidse, Marceli Chojnacki, Sarah Ilmberger, Sofie Berente, Nicole Reisch, Ulrike M. Krämer · 2026 · Hormones and Behavior
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- Genetic characteristics and clinical features of pediatric congenital adrenal hyperplasia in KoreaInsung Kim, Min Hyung Cho, Young Ah Lee, Yun Jeong Lee, Chong Kun Cheon, Junghwan Suh, Jung-Eun Moon, Chan Jong Kim, Han Hyuk Lim, Moon Bae Ahn et al. · 2026 · Endocrine
- Congenital adrenal hyperplasia in children: a comprehensive review of clinical spectrum, diagnostic strategies, and management approachesDinesh Giri, Julie Alderson, Munibah Bashir, Mohamed Sameh Shalaby, Cara Williams, Julie Park · 2026 · Journal of Pediatric Endocrinology and Metabolism
- New perspectives on congenital adrenal hyperplasia: current concepts in pathophysiology, fertility and therapeutic advancesMichał Szklarz, Katarzyna Wołos-Kłosowicz, Joanna Szulc, Jan Marek Górny, Wojciech Matuszewski · 2026 · Middle East Fertility Society Journal