ArticleJournal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research2015
TSH elevations as the first laboratory evidence for pseudohypoparathyroidism type Ib (PHP-Ib).
Article in Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 35 citations in OpenAlex.
- Analysis of Multiple Families With Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS Deletion.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2016Trial
- Clinical picture of early-infancy PTH resistance syndromes: is it time to improve diagnostic criteria?The Journal of clinical endocrinology and metabolism · 2026Article
- Late-Onset Pseudohypoparathyroidism: A Case Report.Cureus · 2025Article
- Clinical and genetic characteristics for 4 patients with Type Ib pseudohypoparathyroidism.Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2022Article
- New insights into thyroid dysfunction in patients with inactivating parathyroid hormone/parathyroid hormone-related protein signalling disorder (the hormonal and ultrasound aspects): One-centre preliminary results.Frontiers in endocrinology · 2022Article
- An intricate case of sporadic pseudohypoparathyroidism type 1B with a review of literature.Archives of endocrinology and metabolism · 2021Review
- A Distinct Variant of Pseudohypoparathyroidism (PHP) First Characterized Some 41 Years Ago Is Caused by the 3-kbJBMR plus · 2021Article
- Pseudohypoparathyroidism, acrodysostosis, progressive osseous heteroplasia: different names for the same spectrum of diseases?Endocrine · 2021Review
- Preferential Maternal Transmission of STX16-GNAS Mutations Responsible for Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B): Another Example of Transmission Ratio Distortion.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2021Article
- Pseudohypoparathyroidism: application of the Italian common healthcare-pathway for a homogeneous clinical approach and a shared follow up.Italian journal of pediatrics · 2021Article
- Intragenic Deletions of GNAS in Pseudohypoparathyroidism Type 1A Identify a New Region Affecting Methylation of Exon A/B.The Journal of clinical endocrinology and metabolism · 2020Article
- Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement.Nature reviews. Endocrinology · 2018Review
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- Early-Onset Obesity: Unrecognized First Evidence for GNAS Mutations and Methylation Changes.The Journal of clinical endocrinology and metabolism · 2017Article
- Epidemiology and Diagnosis of Hypoparathyroidism.The Journal of clinical endocrinology and metabolism · 2016Review
- Pseudohypoparathyroidism type 1B caused by methylation changes at the GNAS complex locus.BMJ case reports · 2016Article
- Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects.Clinical epigenetics · 2016Article
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Authors and funding
14 authors at 10 institutions in 7 countries.
Funding
Abstract
Hypocalcemia and hyperphosphatemia because of resistance toward parathyroid hormone (PTH) in the proximal renal tubules are the most prominent abnormalities in patients affected by pseudohypoparathyroidism type Ib (PHP-Ib). In this rare disorder, which is caused by GNAS methylation changes, resistance can occur toward other hormones, such as thyroid-stimulating hormone (TSH), that mediate their actions through G protein-coupled receptors. However, these additional laboratory abnormalities are usually not recognized until PTH-resistant hypocalcemia becomes clinically apparent. We now describe four pediatric patients, first diagnosed with subclinical or overt hypothyroidism between the ages of 0.2 and 15 years, who developed overt PTH-resistance 3 to 20 years later. Although anti-thyroperoxidase (anti-TPO) antibodies provided a plausible explanation for hypothyroidism in one of these patients, this and two other patients revealed broad epigenetic GNAS abnormalities, which included loss of methylation (LOM) at exons AS, XL, and A/B, and gain of methylation at exon NESP55; ie, findings consistent with PHP-Ib. LOM at GNAS exon A/B alone led in the fourth patient to the identification of a maternally inherited 3-kb STX16 deletion, a well-established cause of autosomal dominant PHP-Ib. Although GNAS methylation changes were not detected in additional pediatric and adult patients with subclinical hypothyroidism (23 pediatric and 39 adult cases), hypothyroidism can obviously be the initial finding in PHP-Ib patients. One should therefore consider measuring PTH, along with calcium and phosphate, in patients with unexplained hypothyroidism for extended periods of time to avoid hypocalcemia and associated clinical complications.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.