Clinical Case of Pseudohypoparathyroidism in Pediatric Practice

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.