ArticleCureus2025
Pseudohypoparathyroidism: Challenges in Early Recognition and Diagnosis of a Rare Hereditary Disorder.
Article in Cureus, 2025. 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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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Authors and funding
5 authors.
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Abstract
Pseudohypoparathyroidism (PHP) is an uncommon endocrine condition marked by an impaired response to parathyroid hormone (PTH), which results in biochemical abnormalities. Clinical manifestations can vary significantly, occasionally resembling other endocrine disorders. Genetic testing plays a critical role in distinguishing PHP from other conditions, as it enables precise diagnosis even when classical features are not initially present. We report the case of a male infant initially diagnosed with congenital hypothyroidism (CH) through neonatal screening and treated with levothyroxine. While growing up, the patient developed syndromic features, including facial dysmorphisms, global developmental delay, behavioural issues, and early-onset obesity. Whole exome sequencing (WES), prompted by the complex phenotype, identified a maternally inherited
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