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
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.
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.
