Abstract
Disorders of calcium-phosphorus metabolism represent a heterogeneous group of metabolic disturbances encompassing both acquired and hereditary forms. This article provides a detailed description of a rare combined endocrine disorder in a 4-year-old boy with severe mineral metabolism abnormalities. The patient was diagnosed with pseudohypoparathyroidism (PHP) — an inherited condition also known as Albright’s hereditary osteodystrophy, characterized by target organ resistance to parathyroid hormone. A distinctive feature of this case is the comorbid autoimmune polyglandular syndrome type 1, manifesting with the classic triad of symptoms: endocrine dysfunction, chronic candidiasis, and immune deficiency. Diagnostic confirmation involved comprehensive laboratory testing including assessment of calcium (total and ionized), phosphorus, creatinine, vitamin D and its metabolites, parathyroid and thyroid-stimulating hormones, cortisol levels, as well as detailed immunological evaluation. Instrumental diagnostics included renal, thymic and thyroid ultrasound, echocardiography, computed tomography of the chest, thoracolumbar spine and extremities, along with electroencephalography. Regrettably, genetic testing to confirm PHP and primary immunodeficiency could not be performed due to the family's financial constraints. The article emphasizes the crucial importance of a multidisciplinary approach in diagnosing and managing complex hereditary disorders. Particular attention is given to strategies for dynamic monitoring and correction of metabolic disturbances. The presented recommendations may prove valuable for pediatricians, endocrinologists and geneticists managing patients with combined calcium-phosphorus metabolism disorders and autoimmune endocrinopathies.
Acknowledgments
The authors are grateful to Children’s City Clinical Hospital No. 9 (Ekaterinburg) represented by Chief Physician I. P. Ogarkov for organizing a comprehensive examination of the patient. They also thank Professor N. E. Sannikova from the Department of Faculty Pediatrics and Propaedeutics of Pediatric Diseases of the Ural State Medical University, together with a team of nephrologists and pediatricians, for their assistance in collecting anamnesis data and conducting a diagnostic search for rare genetic diseases. Finally, the authors thank the patient’s family for allowing them to publish this clinical case.
For citation
Kleshnya DP, Pankratova IB, Plotnikova NM, Devyatykh IF, Khoroshev SA. Clinical case of pseudohypoparathyroidism in pediatric practice. USMU Medical Bulletin. 2025;10(3):e00174. (In Russ.). DOI: https://doi.org/10.52420/usmumb.10.3.e00174. EDN: https://elibrary.ru/IADAXO.
References
Маказан НВ, Орлова ЕМ, Тозлиян ЕВ, Меликян МА, Карева МА, Калинченко НЮ, и др. Клинический полиморфизм псевдогипопаратиреоза у детей. Проблемы эндокринологии. 2017;63(3):148–161. [Makazan NV, Orlova EM, Tozliyan EV, Melikyan MA, Kareva MA, Kalinchenko NYu, et al. Clinical polymorphism of pseudohypoparathyroidism in children. Problems of Endocrinology. 2017;63(3):148–161. (In Russ.)]. DOI: https://doi.org/10.14341/probl2017633148-161.
Тыртова ЛВ, Оленев АС, Дитковская ЛВ, Паршина НВ, Суcпицын ЕН. Псевдогипопаратиреоз Iа типа с ранним дебютом у сестер. Российский вестник перинатологии и педиатрии. 2017;62(4):93–98. [Tyrtova LV, Olenev AS, Ditkovskaya LV, Parshina NV, Suspitsin EN. Pseudohypoparathyroidism type Ia with early onset in sisters. Russian Bulletin of Perinatology and Pediatrics. 2017;62(4):93–98. (In Russ.)]. DOI: https://doi.org/10.21508/1027-4065-2017-62-4-93-98.
Герасименко ОА, Дзеранова ЛК, Рожинская ЛЯ. Псевдогипопаратиреоз: генетические аспекты. Проблемы эндокринологии. 2009;55(3):30–33. [Gerasimenko OA, Dzeranova LK, Rozhinskaya LY. Pseudohypoparathyroidism: Genetic aspects. Problems of Endocrinology. 2009;55(3):30–33. (In Russ.)]. DOI: https://doi.org/10.14341/probl200955330-33.
Bastepe M, Jüppner H. Pseudohypoparathyroidism. New insights into an old disease. Endocrinology and Metabolism Clinics of North America. 2000;29(3):569–589. DOI: https://doi.org/10.1016/s0889-8529(05)70151-1.
Mantovani G. Pseudohypoparathyroidism: Diagnosis and treatment. The Journal of Clinical Endocrinology & Metabolism. 2011;96(10):3020–3030. DOI: https://doi.org/10.1210/jc.2011-1048.
Копытина ДА, Васюкова ОВ, Салахов РР, Окороков ПЛ, Копытина ЕВ, Нагаева ЕВ, и др. Идентификация новых патогенных вариантов в гене GNAS у детей с морбидным ожирением и псевдогипопаратиреозом. Ожирение и метаболизм. 2024;21(4):412–424. [Kopytina DA, Vasyukova OV, Salakhov RR, Okorokov PL, Kopytina EV, Nagaeva EV, et al. Identification of novel pathogenic variants in the GNAS gene in children with morbid obesity and pseudohypoparathyroidism. Obesity and Metabolism. 2024;21(4):412–424. (In Russ.)]. DOI: https://doi.org/10.14341/omet13169.
Дзеранова ЛК, Маказан НВ, Пигарова ЕА, Тюлякова АН, Артемова ЕВ, Солдатова ТВ, и др. Множественная гормональная резистентность и метаболические нарушения при псевдогипопаратиреозе. Ожирение и метаболизм. 2018;15(2):51–55. [Dzeranova LK, Makazan NV, Pigarova EA, Tiuliakova AN, Artemova EV, Soldatova TV, et al. Multiple hormone resistance and metabolic disorders in pseudohypoparathyroidism. Obesity and Metabolism. 2018;15(2):51–55. (In Russ.)]. DOI: https://doi.org/10.14341/OMET20182.
Губкина ВА, Камынина ТС, Корнилова ЕВ, Древаль АВ. Редкий случай псевдогипопаратиреоза. Проблемы эндокринологии. 1999;45(1):38–39. [Gubkina VA, Kamynina TS, Kornilova EV, Dreval AV. A rare case of pseudohypoparathyroidism. Problems of Endocrinology. 1999;45(1):38–39. (In Russ.)]. DOI: https://doi.org/10.14341/probl11704.
Кудрявцева НА, Королькова ЕЮ, Никитинская ВИ, Сеченева ЛВ, Соцкова КА. Псевдогипопаратиреоз (болезнь Олбрайта). Вестник Новгородского государственного университета. 2015;(2):110–113. [Kudriavtseva NA, Korol’kova EIu, Nikitinskaia VI, Secheneva LV, Sotskova KA. Pseudohypoparathyroidism (Albright syndrome). Vestnik of Novgorod State University. 2015;(2):110–113. (In Russ.)]. EDN: https://elibrary.ru/TXPCAZ.
Созаева ЛС, Карманов МЕ, Брейвик Л, Хусби Э, Карева МА. Новые иммунологические методы диагностики аутоиммунного полиэндокринного синдрома 1-го типа (первый опыт в России). Проблемы эндокринологии. 2015;61(3):4–8. [Sozaeva LS, Karmanov ME, Breivik L, Husbi E, Kareva MA. The new immunological methods for diagnostics of type 1 autoimmune polyendocrine syndrome (the first experience in Russia). Problems of Endocrinology. 2015;61(3):4–8. (In Russ.)]. DOI: https://doi.org/10.14341/probl20156134-8.
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Copyright © 2025 Kleshnya D. P., Pankratova I. B., Plotnikova N. M., Devyatykh I. F., Khoroshev S. A.