Lekárska genetika a diagnostika 1/2026
Pseudohypoparathyroidism: mutation or epimutation?
Pseudohypoparathyroidism represents a heterogeneous group of rare, genetically related endocrine disorders characterized by complete or partial end-organ resistance to parathyroid hormone as well as to other hormones whose receptors are coupled to the same regulatory G protein. Diagnosis can be very complicated and often prolonged due to the atypical and frequently overlapping symptomatology of the individual forms of the disease, resulting from their different genetic and epigenetic molecular causes. Therefore, in the case of a negative NGS analysis of the GNAS gene associated with this disease, one should also consider its possible „epigenetic shutdown“ due to faulty imprinting, the cause of which may also be a microdeletion of the STX16 gene.
Keywords: parathyroid hormone, G protein, GNAS gene, methylation
