ArticleFrontiers in endocrinology2026
Late-onset atypical pseudohypoparathyroidism type 1A with intracranial calcification and epilepsy associated with a novel
Article in Frontiers in endocrinology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Pseudohypoparathyroidism (PHP) type 1A is a rare inherited disorder characterized by resistance to parathyroid hormone and, typically, features of Albright hereditary osteodystrophy. We report a late-onset case in a 59-year-old woman who presented with cognitive decline, behavioral and psychiatric symptoms, gait instability, and seizure-like episodes. Laboratory tests showed hypocalcemia, hyperphosphatemia, and elevated parathyroid hormone levels. Brain imaging revealed symmetrical calcifications in the bilateral basal ganglia, thalami, and periventricular regions, while electroencephalography showed epileptiform discharges. Genetic testing identified a heterozygous missense variant in
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