ArticleFrontiers in endocrinology2026
Variability of endocrine findings with age and clinical severity in the long-term follow-up of pseudohypoparathyroidism: evidence of TRH resistance with central hypothyroidism.
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
Background: Pseudohypoparathyroidism (PHP) is a rare disorder with clinical and genetic heterogeneity, resulting from inactivating variants or epigenetic alterations of the Objective: To characterize the natural course of PHP, focusing on rarely defined endocrine features. Methods: Nineteen children (11 girls) from 17 families from a single center, diagnosed with PHP from 1992 to 2025, were enrolled. Genetic/epigenetic analyses, age at onset, and evidence of hormone resistance, radiologic findings, and long-term follow-up of anthropometric measurements were retrospectively reviewed, and cases were classified according to clinical and genetic features as PHP1A, PHP1B, or PPHP. Results: The study group consisted of children with PHP1A (n=10), PHP1B (n=8), and PPHP (n=1). PHP1A cases harbored six different Conclusion: Overlapping PHP1A and PHP1B features may complicate differential diagnosis, necessitating molecular genetic analysis. The pattern and severity of endocrine involvement, including possible central hypothyroidism, vary widely among affected children.
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