ArticleChildren (Basel, Switzerland)2022
Early Diagnosis of Pseudohypoparathyroidism before the Development of Hypocalcemia in a Young Infant.
Article in Children (Basel, Switzerland), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 4 citations in OpenAlex.
- Pseudohypoparathyroidism with normocalcemia: a rare case report from Nepal.Annals of medicine and surgery (2012) · 2025Article
- Pseudohypoparathyroidism: Challenges in Early Recognition and Diagnosis of a Rare Hereditary Disorder.Cureus · 2025Article
- Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?Diagnostics (Basel, Switzerland) · 2022Article
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4 authors at 4 institutions in 1 country.
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Abstract
Pseudohypoparathyroidism (PHP) is a rare, heterogeneous disorder characterized by end-organ resistance to parathyroid hormone (PTH). PTH resistance causes elevated PTH levels, hypocalcemia, and hyperphosphatemia. Since hypocalcemia causes life-threatening events, early diagnosis is crucial. However, the diagnosis of PHP is elusive during infancy because PHP is usually diagnosed with hypocalcemia-induced symptoms, which develop later in childhood when calcium requirements increase. A 1-month-old girl was referred to our clinic for elevated thyroid-stimulating hormone (TSH) levels on newborn screening. When measured 1 month after levothyroxine treatment, her TSH level normalized. At 4-months-old, multiple hard nodules were noted on her trunk. A punch skin biopsy revealed osteoma cutis associated with Albright's hereditary osteodystrophy, a major characteristic of PHP. We performed targeted sanger sequencing of the
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