Variable Bone Phenotypes in Patients with Pseudohypoparathyroidism

Wang, Yan; Lu, Chunyan; Chen, Xiang

doi:10.1007/s11914-023-00787-6

Cited by 2 publications

(2 citation statements)

References 59 publications

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“…In addition, due to the increased PTH levels, at least part of the bone tissue of patients with PHPIB is destroyed to some extent, which can manifest as osteopenia, osteosclerosis, and fibrocystic osteitis, whereas individuals with PHPIA show higher BMD. 5,6 Our patient was in accordance with the clinical manifestations of PHPIB. PHPIB can be further divided into familial type (with autosomal dominant inheritance) and sporadic type (without family history).…”

Section: Diagnostic Typingsupporting

confidence: 75%

Pseudohypoparathyroidism Type IB with Subclinical Hypothyroidism: a Pedigree Investigation and Literature Review

Liu,

Lu,

Wei

et al. 2024

DMSO

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Pseudohypoparathyroidism (PHP) is a rare genetic disease characterized by hypocalcemia, hyperphosphatemia, and elevated parathyroid hormone (PTH) in serum. Here, we report a case of a patient with pseudohypoparathyroidism type IB (PHPIB) and subclinical hypothyroidism, analyze the clinical and genetic data of his family members, review the relevant literature, and classify and discuss the pathogenesis and clinical characteristics of each subtype. Finally, we discuss the treatment approach to improve clinicians' understanding of the disease.

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Section: Diagnostic Typingsupporting

confidence: 75%

Pseudohypoparathyroidism Type IB with Subclinical Hypothyroidism: a Pedigree Investigation and Literature Review

Liu,

Lu,

Wei

et al. 2024

DMSO

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“…Furthermore, high bone mass was found in two brothers diagnosed as PHP1B [5]. These data may indicate that PHP patients do not have a complete skeletal resistance to PTH, and the skeletal response to PTH in different sites or among different subgroups of PHP subjects is heterogenous, which leads to the diverse bone status in PHP subjects [12].…”

Section: Discussionmentioning

confidence: 92%

Bone Status and Circulating Sclerostin Levels Differ among Patients with Different Parathyroid Disorders

2023

J Orthop Res Ther

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Parathyroid Hormone (PTH) shows both catabolic or anabolic actions on the skeleton and the anabolic actions of PTH are mainly mediated by inhibition of sclerostin expression in osteocytes. Different parathyroid disorders show different effects on bone status and circulating sclerostin levels. Studies regarding bone status including bone mass and bone turnover markers in pseudohypoparathyroidism are sparse and get inconsistent results. Previous studies suggested that pseudohypoparathyroidism may show partial resistance to PTH in skeleton. Therefore, we hypothesized that the bone status in pseudohypoparathyroidism may be between hyperparathyroidism and hypoparathyroidism. Therefore, this study was designed to compare the bone status including bone density and bone turnover markers, as well as circulating sclerostin levels, among patients with different parathyroid disorders. A total of 216 patients with hyperparathyroidism, pseudohypoparathyroidism and hypoparathyroidism were collected. Results showed that the Bone Mineral Density (BMD) of Lumbar Spine (LS), Femoral Neck (FN) and Total Hip (TH) were gradually decreased in hyperparathyroidism, pseudohypoparathyroidism and hypoparathyroidism. The levels of bone turnover markers were comparable between hyperparathyroidism and pseudohypoparathyroidism, and were significantly higher than those of hypoparathyroidism. Serum sclerostin levels were significantly lower in hyperparathyroidism. In hyperparathyroidism, sclerostin was positively correlated with BMD of LS and FN. In pseudohypoparathyroidism, sclerostin was positively associated with BMD of LS. Our study suggested that the bone status in pseudohypoparathyroidism is between hyperparathyroidism and hypoparathyroidism, and circulating sclerostin levels are different among patients with different parathyroid disorders and are correlated with BMD of LS and FN in hyperparathyroidism and pseudohypoparathyroidism.

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Variable Bone Phenotypes in Patients with Pseudohypoparathyroidism

Cited by 2 publications

References 59 publications

Pseudohypoparathyroidism Type IB with Subclinical Hypothyroidism: a Pedigree Investigation and Literature Review

Pseudohypoparathyroidism Type IB with Subclinical Hypothyroidism: a Pedigree Investigation and Literature Review

Bone Status and Circulating Sclerostin Levels Differ among Patients with Different Parathyroid Disorders

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