Aldosterone synthase deficiency due to homozygous CYP11B2 pathogenic 
variant with coexisting celiac disease: A case study and literature review

Zuzanna Gawlik; Konrad Kaleta; Martyna Wróblewska; Maria Szwarkowska; Ewelina Preizner-Rzucidło; Krystian Jażdżewski; Sebastian Wardak; Jerzy B. Starzyk; Dominika M. Januś

doi:10.5114/pedm.2025.155104

eISSN: 2083-8441
ISSN: 2081-237X

Pediatric Endocrinology Diabetes and Metabolism

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abstract:

Case report

Aldosterone synthase deficiency due to homozygous CYP11B2 pathogenic variant with coexisting celiac disease: A case study and literature review

Zuzanna Gawlik

^{1, 2}

,

Konrad Kaleta

³

,

Martyna Wróblewska

³

,

Maria Szwarkowska

³

,

Ewelina Preizner-Rzucidło

⁴

,

Krystian Jażdżewski

⁵

,

Sebastian Wardak

⁵

,

Jerzy B. Starzyk

^{1, 2}

,

Dominika M. Januś

^{1, 2}

Department of Pediatric and Adolescent Endocrinology, University Children Hospital in Krakow, Poland
Department of Pediatric and Adolescent Endocrinology, Chair of Pediatrics, Institute of Pediatrics, Jagiellonian University Medical College, Krakow, Poland
Students’ Scientific Group of Pediatric Auxology, Faculty of Medicine, Jagiellonian University Medical College, University Children's Hospital, Krakow, Poland
Department of Genetics, Institute of Pediatrics, Jagiellonian University Medical College, Krakow, Poland
MedGen, Medical Center, Warsaw, Poland

Pediatr Endocrinol Diabetes Metab 2025; 31 (3): 133-140

DOI: https://doi.org/10.5114/pedm.2025.155104

Online publish date: 2025/10/23

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AMA

Gawlik Z, Kaleta K, Wróblewska M, et al. Aldosterone synthase deficiency due to homozygous CYP11B2 pathogenic 
variant with coexisting celiac disease: A case study and literature review. Pediatric Endocrinology Diabetes and Metabolism. 2025;31(3):133-140. doi:10.5114/pedm.2025.155104.

APA

Gawlik, Z., Kaleta, K., Wróblewska, M., Szwarkowska, M., Preizner-Rzucidło, E.,  & Jażdżewski, K. et al. (2025). Aldosterone synthase deficiency due to homozygous CYP11B2 pathogenic 
variant with coexisting celiac disease: A case study and literature review. Pediatric Endocrinology Diabetes and Metabolism, 31(3), 133-140. https://doi.org/10.5114/pedm.2025.155104

Chicago

Gawlik, Zuzanna, Konrad Kaleta, Martyna Wróblewska, Maria Szwarkowska, Ewelina Preizner-Rzucidło, Krystian Jażdżewski,  and Sebastian Wardak et al. 2025. "Aldosterone synthase deficiency due to homozygous CYP11B2 pathogenic 
variant with coexisting celiac disease: A case study and literature review". Pediatric Endocrinology Diabetes and Metabolism 31 (3): 133-140. doi:10.5114/pedm.2025.155104.

Harvard

Gawlik, Z., Kaleta, K., Wróblewska, M., Szwarkowska, M., Preizner-Rzucidło, E., Jażdżewski, K., Wardak, S., B. Starzyk, J.,  and M. Januś, D. (2025). Aldosterone synthase deficiency due to homozygous CYP11B2 pathogenic 
variant with coexisting celiac disease: A case study and literature review. Pediatric Endocrinology Diabetes and Metabolism, 31(3), pp.133-140. https://doi.org/10.5114/pedm.2025.155104

MLA

Gawlik, Zuzanna et al. "Aldosterone synthase deficiency due to homozygous CYP11B2 pathogenic 
variant with coexisting celiac disease: A case study and literature review." Pediatric Endocrinology Diabetes and Metabolism, vol. 31, no. 3, 2025, pp. 133-140. doi:10.5114/pedm.2025.155104.

Vancouver

Gawlik Z, Kaleta K, Wróblewska M, Szwarkowska M, Preizner-Rzucidło E, Jażdżewski K et al. Aldosterone synthase deficiency due to homozygous CYP11B2 pathogenic 
variant with coexisting celiac disease: A case study and literature review. Pediatric Endocrinology Diabetes and Metabolism. 2025;31(3):133-140. doi:10.5114/pedm.2025.155104.

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Aldosterone is synthesized in the adrenal zona glomerulosa via the action of the mitochondrial cytochrome P450 enzyme aldosterone synthase (CYP11B2) through sequential enzyme reactions. Pathogenic variants in CYP11B2 result in corticosterone methyloxidase type I deficiency (CMO I), an orphan condition with a potentially lethal electrolyte imbalance in infancy. We report the unique occurrence of CMO I with celiac disease in the first genetically confirmed Polish case of CMO I; a 15-year-old female, diagnosed initially in the neonatal period because of severe hyponatremia, hyperkalemia, metabolic acidosis, and failure to thrive. The patient’s clinical course was complicated by protracted electrolyte abnormalities, poor weight gain, and eventual diagnosis of celiac disease, which temporally correlated with abnormal growth patterns. Extensive endocrine assessment, steroid profiling, and next-generation DNA sequencing revealed a homozygous pathogenic variant in CYP11B2 (c.1354G>A; p.Gly452Arg), confirming CMO type I.

keywords:

Aldosterone synthase deficiency due to homozygous CYP11B2 pathogenic variant with coexisting celiac disease: A case study and literature review

Zuzanna Gawlik 1, 2 , Konrad Kaleta 3 , Martyna Wróblewska 3 , Maria Szwarkowska 3 , Ewelina Preizner-Rzucidło 4 , Krystian Jażdżewski 5 , Sebastian Wardak 5 , Jerzy B. Starzyk 1, 2 , Dominika M. Januś 1, 2

celiac disease, hyponatremia, aldosterone synthase, adrenal insufficiency, CYP11B2

Zuzanna Gawlik

^{1, 2}

,

Konrad Kaleta

³

,

Martyna Wróblewska

³

,

Maria Szwarkowska

³

,

Ewelina Preizner-Rzucidło

⁴

,

Krystian Jażdżewski

⁵

,

Sebastian Wardak

⁵

,

Jerzy B. Starzyk

^{1, 2}

,

Dominika M. Januś

^{1, 2}