Endocrinology and Metabolism

Original Articles

Adrenal Gland Big Data Articles (National Health Insurance Service Database)
Epidemiology and Long-Term Adverse Outcomes in Korean Patients with Congenital Adrenal Hyperplasia: A Nationwide Study: Jung Hee Kim, Sunkyu Choi, Young Ah Lee, Juneyoung Lee, Sin Gon Kim; Endocrinol Metab. 2022;37(1):138-147. Published online February 28, 2022; DOI: https://doi.org/10.3803/EnM.2021.1328

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30 Crossref

Background
Previous studies on the epidemiology and complications of congenital adrenal hyperplasia (CAH) were conducted in Western countries and in children/adolescents. We aimed to explore the epidemiology of CAH, as well as the risk of comorbidities and mortality, in a Korean nationwide case-control study.
Methods
CAH patients (n=2,840) were included between 2002 and 2017 from the National Health Insurance Service database and the Rare Intractable Disease program. CAH patients were compared, at a 1:10 ratio, with age-, sex-, and index year-matched controls (n=28,400).
Results
The point prevalence of CAH patients in Korea was 1 in 18,745 persons in 2017. The annual incidence rate declined between 2003 and 2017 from 3.25 to 0.41 per 100,000 persons. CAH patients were at elevated risk for cardiovascular disease (odds ratio [OR], 1.6; 95% confidence interval [CI], 1.4 to 1.9), stroke (OR, 1.7; 95% CI, 1.3 to 2.0), diabetes mellitus (OR, 2.8; 95% CI, 2.6 to 3.1), dyslipidemia (OR, 2.4; 95% CI, 2.2 to 2.6), and psychiatric disorders (OR, 1.5; 95% CI, 1.3 to 1.6). Fracture risk increased in CAH patients aged over 40 years (OR, 1.4; 95% CI, 1.1 to 1.7). CAH patients were at higher risk of mortality than controls (hazard ratio, 1.6; 95% CI, 1.3 to 2.0).
Conclusion
Our nationwide study showed a recent decline in the incidence of CAH and an elevated risk for cardiovascular, metabolic, skeletal, and psychiatric disorders in CAH patients. Lifelong management for comorbidity risk is a crucial component of treating CAH patients.

Citations

Citations to this article as recorded by

Clinical tools for evaluating congenital adrenal hyperplasia in resource-limited hospitals: a study at a tertiary hospital in Saudi Arabia
Daniah Alhazmi, Azzam Alabdulqader, Shahad Almeqbel, Raghad Alhuthil, Afaf Alsagheir
Frontiers in Endocrinology.2026;[Epub] CrossRef
Nationwide Big Data Studies of Endocrine Diseases Using the Korean National Health Information Database: Research Trends and Standardization of Operational Definitions
Sun Wook Cho, Jung Hee Kim, Kyoung Jin Kim, Beom-Jun Kim, Mee Kyoung Kim, Eun Jung Rhee
Endocrinology and Metabolism.2026; 41(1): 86. CrossRef
Glucocorticoid reduction after starting crinecerfont in adult patients with classic CAH: practical perspectives
Oksana Hamidi, Richard J Auchus, Ricardo Correa, Alice C Levine, Margaret E Wierman, Andrea L Hartzell, Vivian H Lin, Irina Bancos
The Journal of Clinical Endocrinology & Metabolism.2026; 111(7): 1801. CrossRef
Glucocorticoid reduction after starting crinecerfont in pediatric patients with classic congenital adrenal hyperplasia: practical perspectives
Natalie J Nokoff, Patricia Y Fechner, Mimi S Kim, Ian Marshall, Deborah P Merke, Kyriakie Sarafoglou, Andrea L Hartzell, Vivian H Lin, Paul Thornton
The Journal of Clinical Endocrinology & Metabolism.2026; 111(8): e1937. CrossRef
Advances in pharmacological treatment for congenital adrenal hyperplasia
Lara E. Graves, Henrik Falhammar
Current Opinion in Pediatrics.2026; 38(4): 434. CrossRef
Bone health in adolescents with congenital adrenal hyperplasia: exploring the interplay between glucocorticoid therapy, hormonal imbalance and puberty
Irene Tizianel, Filippo Ceccato, Mattia Barbot
Frontiers in Adolescent Medicine.2026;[Epub] CrossRef
Pharmacotherapeutic strategies for the management of congenital adrenal hyperplasia
Wen Huey Goai, David J. Torpy
Expert Opinion on Pharmacotherapy.2026; 27(10): 979. CrossRef
Cardiometabolic Aspects of Congenital Adrenal Hyperplasia
Robert Krysiak, Hedi L Claahsen-van der Grinten, Nicole Reisch, Philippe Touraine, Henrik Falhammar
Endocrine Reviews.2025; 46(1): 80. CrossRef
Prevalence of Psychiatric Comorbidities in Females With Classic Congenital Adrenal Hyperplasia
Behzad Sorouri Khorashad, Oumaima Kaabi, Melissa D Gardner, Darios Getahun, Michael Goodman, Timothy L Lash, Peter A Lee, Joshua May, Courtney McCracken, Maria Muzik, Suma Vupputuri, Rami Yacoub, David E Sandberg
The Journal of Clinical Endocrinology & Metabolism.2025; 110(8): e2562. CrossRef
Glucocorticoid therapy in classic congenital adrenal hyperplasia: traditional and new treatment paradigms
Irina Bancos, Hyunwoo Kim, Henry K. Cheng, Mariam Rodriguez-Lee, Helen Coope, Samantha Cicero, Hannah Goldsmith, Vivian H. Lin, George S. Jeha
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Clinical Manifestations and Challenges in Adolescent and Adult Females With Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
Hedvig Engberg, Anna Nordenström, Angelica Lindén Hirschberg
The Journal of Clinical Endocrinology & Metabolism.2025; 110(Supplement): S37. CrossRef
Metabolic Syndrome Spectrum in Children with Classic Congenital Adrenal Hyperplasia—A Comprehensive Review
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Long-term outcomes of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a retrospective study from a tertiary care center in Saudi Arabia
Haneen Aldalaan, Afaf Alsagheir, Nujud Alghamdi, Raghad Alhuthil, Maha Almslam, Mohamed H. Al-Hamed
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The epidemiology of disorders of sex development
Agnethe Berglund, Simon Chang, Marie Lind-Holst, Kirstine Stochholm, Claus Højbjerg Gravholt
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Yang Liu, Xiaokun Gang, Yuan Gao, Guixia Wang
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Kyoung Jin Kim, Min Heui Yu, Yoon-a Hwang, Shinje Moon, Namki Hong, Yumie Rhee
Frontiers in Endocrinology.2025;[Epub] CrossRef
Non-classical congenital adrenal hyperplasia: current insights into clinical implications, diagnosis and treatment
Paola Loli, Sara Menotti, Luigi di Filippo, Andrea Giustina
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Increased mortality in primary adrenal insufficiency: a systematic review and meta-analysis
Konstantinos Dalakas, Francesca Allosso, Christian Basile, Ragnhildur Bergthorsdottir, Dimitrios Chantzichristos, Eva Hessman, Bright I Nwaru, Emanuele Bobbio, Daniela Pasquali, Gudmundur Johannsson, Daniela Esposito
European Journal of Endocrinology.2025; 193(4): S53. CrossRef
Exploration of the potential of genomic editing in the treatment of congenital adrenal hyperplasia
Lara E. Graves, Sharntie Christina, Kathryn L. Mullany, Ian E. Alexander, Henrik Falhammar
Frontiers in Endocrinology.2025;[Epub] CrossRef
Long‐term health consequences of congenital adrenal hyperplasia
Riccardo Pofi, Xiaochen Ji, Nils P. Krone, Jeremy W. Tomlinson
Clinical Endocrinology.2024; 101(4): 318. CrossRef
Hyperandrogenism and Cardiometabolic Risk in Pre- and Postmenopausal Women—What Is the Evidence?
Angelica Lindén Hirschberg
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Predictors of Cardiovascular Morbidities in Adults With 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia
Suranut Charoensri, Richard J Auchus
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Case report: Development of central precocious puberty in a girl with late-diagnosed simple virilizing congenital adrenal hyperplasia complicated with Williams syndrome
Eun Young Joo, Myung Ji Yoo, Su Jin Kim, Woori Jang, Ji-Eun Lee
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Proof of concept for a superior therapeutic index of corticosterone compared with hydrocortisone in patients with congenital adrenal hyperplasia
Catriona J Kyle, Luke D Boyle, Mark Nixon, Natalie Z M Homer, Joanna P Simpson, Alison Rutter, Lynne E Ramage, Alexandra Kelman, Ellen Marie Freel, Ruth Andrew, Brian R Walker, Roland H Stimson
European Journal of Endocrinology.2024; 191(6): 535. CrossRef
Анализ распространенности и заболеваемости надпочечниковой недостаточностью в мире
М. Ю. Юкина, Н. Ф. Нуралиева, Е. А. Трошина
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Sun Wook Cho, Jung Hee Kim, Han Seok Choi, Hwa Young Ahn, Mee Kyoung Kim, Eun Jung Rhee
Endocrinology and Metabolism.2023; 38(1): 10. CrossRef
Long-term cardiometabolic morbidity in young adults with classic 21-hydroxylase deficiency congenital adrenal hyperplasia
Beatrice Righi, Salma R. Ali, Jillian Bryce, Jeremy W. Tomlinson, Walter Bonfig, Federico Baronio, Eduardo C. Costa, Guilherme Guaragna-Filho, Guy T’Sjoen, Martine Cools, Renata Markosyan, Tania A. S. S. Bachega, Mirela C. Miranda, Violeta Iotova, Henrik
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Serum steroid profile captures metabolic phenotypes in adults with classic congenital adrenal hyperplasia
Chang Ho Ahn, Jaeyoon Shim, Han Na Jang, Young Ah Lee, Sang-Won Lee, Man Ho Choi, Jung Hee Kim
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Multiplexed Serum Steroid Profiling Reveals Metabolic Signatures of Subtypes in Congenital Adrenal Hyperplasia
Jaeyoon Shim, Chang Ho Ahn, Seung Shin Park, Jongsung Noh, Chaelin Lee, Sang Won Lee, Jung Hee Kim, Man Ho Choi
Journal of the Endocrine Society.2023;[Epub] CrossRef
Long-Term Outcomes of Congenital Adrenal Hyperplasia
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Endocrine Research
Functional Identification of Compound Heterozygous Mutations in the CYP17A1 Gene Resulting in Combined 17α-Hydroxylase/17,20-Lyase Deficiency: Eun Yeong Mo, Ji-young Lee, Su Yeon Kim, Min Ji Kim, Eun Sook Kim, Seungok Lee, Je Ho Han, Sung-dae Moon; Endocrinol Metab. 2018;33(3):413-422. Published online September 18, 2018; DOI: https://doi.org/10.3803/EnM.2018.33.3.413

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Abstract PDF PubReader ePub

Background

We previously reported a patient with congenital adrenal hyperplasia (CAH) with compound heterozygous mutations in the cytochrome P450 17A1 (CYP17A1) gene. One allele had a p.His373Leu and the other a new p.Glu383fsX36 mutation. The aim of this study was to investigate the functional properties of a new allele present in a compound heterozygote of CYP17A1.

Methods

To understand how p.His373Leu and p.Glu383fsX36 affect P450c17 enzymatic activity, wild type and mutant CYP17A1 cDNAs were cloned into flag-tagged pcDNA3 vector and introduced into human embryonic kidney cells 293T (HEK293T) cells. Protein expression levels of CYP17A1 were then analyzed. And the activities of 17α-hydroxylase and 17,20-lyase of CYP17A1 were evaluated by measuring the conversion of progesterone to 17α-hydroxyprogesterone and of 17α-hydroxypregnenolone to dehydroepiandrosterone, respectively. In addition a computer model was used to create the three-dimensional structure of the mutant CYP17A1 enzymes.

Results

Production of the p.His373Leu mutant protein was significantly lower than that of the wild type protein, and the p.Glu383fsX36 protein was hardly produced. Similarly the enzymatic activity derived from the p.His373Leu mutant vector was significantly lower than that obtained from the wild type vector, and little activity was obtained from the p.Glu383fsX36 vector. Three-dimensional modeling of the enzyme showed that p.His373 was located in region important for heme-binding and proper folding. Neither the p.His373Leu nor the p.Glu383fsX36 mutant protein formed a heme-binding structure.

Conclusion

Enzyme activity measured in both mutants disappeared completely in both 17α-hydroxylase and 17,20-lyase. This result accounts for the clinical manifestations of the patient with the compound heterozygous CYP17A1 mutations.

Citations

Citations to this article as recorded by

Novel CYP17A1 variants and functional validation in a large Chinese cohort of complete 17α-hydroxylase deficiency
Yaqing Cao, Lin Lu, Ming Li, Anli Tong, Shi Chen, Xiaoxia Zhang, Wei Zhang, Baocheng Guo, Chenjie Guo, Chuang Wang, Xi Wang, Jiangfeng Mao, Xueyan Wu, Min Nie
The Journal of Clinical Endocrinology & Metabolism.2026;[Epub] CrossRef
Clinical Characteristics and Follow-up Course of 17α-Hydroxylase/17,20-Lyase Deficiency in Korea: the OUTSPREAD Multicenter Study
Ka Young Kim, Sung Yoon Cho, Min Jee Kim, Hwa Young Kim, Junghwan Suh, Chong Kun Cheon, Hyo-Kyoung Nam, Choong Ho Shin, Young Ah Lee, Yun Jeong Lee
Endocrinology and Metabolism.2026;[Epub] CrossRef
Clinical and endocrine correlates of genetic etiologies in severe hypospadias: Study from 34 patients
Wen-Hua Huang, Ya-Nan Wang, Qian-Qian Tan, Wei Zeng, Xu Cui, Yong Zhou, Chao-Ming Zhou
Journal of Pediatric Urology.2026; 22(5): 106111. CrossRef
A rare case of 17α-hydroxylase/17, 20-lyase deficiency: Clinical and genetic findings and follow-up outcomes
Li-Zhen Dai, Hong Ma, Jian-Fang Ke, Chen-Shi Lin, Yanling Huang, Yuan Tian, Danling Chen
Women's Health.2022;[Epub] CrossRef
Novel mutations of the CYP17A1 gene in four Chinese 46,XX cases with partial 17a-hydroxylase/17,20-lyase deficiency
Yanjie Xia, Panlai Shi, Junke Xia, Huijuan Zhang, Lijun Xu, Xiangdong Kong
Steroids.2021; 173: 108873. CrossRef

Case Report

Adrenal gland
Untreated Congenital Adrenal Hyperplasia with 17-α Hydroxylase/17,20-Lyase Deficiency Presenting as Massive Adrenocortical Tumor: Su Jin Lee, Je Eun Song, Sena Hwang, Ji-Yeon Lee, Hye-Sun Park, Seunghee Han, Yumie Rhee; Endocrinol Metab. 2015;30(3):408-413. Published online August 4, 2015; DOI: https://doi.org/10.3803/EnM.2015.30.3.408

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73 Download
7 Web of Science
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Abstract PDF PubReader

Congenital adrenal hyperplasia (CAH) with 17α-hydroxylase/17,20-lyase deficiency is usually characterized by hypertension and primary amenorrhea, sexual infantilism in women, and pseudohermaphroditism in men. hypertension, and sexual infantilism in women and pseudohermaphroditism in men. In rare cases, a huge adrenal gland tumor can present as a clinical manifestation in untreated CAH. Adrenal cortical adenoma is an even more rare phenotype in CAH with 17α-hydroxylase/17,20-lyase deficiency. A 36-year-old female presented with hypertension and abdominal pain caused by a huge adrenal mass. Due to mass size and symptoms, left adrenalectomy was performed. After adrenalectomy, blood pressure remained high. Based on hormonal and genetic evaluation, the patient was diagnosed as CAH with 17α-hydroxylase/17,20-lyase deficiency. The possibility of a tumorous change in the adrenal gland due to untreated CAH should be considered. It is important that untreated CAH not be misdiagnosed as primary adrenal tumor as these conditions require different treatments. Adequate suppression of adrenocorticotropic hormone (ACTH) in CAH is also important to treat and to prevent the tumorous changes in the adrenal gland. Herein, we report a case of untreated CAH with 17α-hydroxylase/17,20-lyase deficiency presenting with large adrenal cortical adenoma and discuss the progression of adrenal gland hyperplasia due to inappropriate suppression of ACTH secretion.

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