Pseudohypoparathyroidism with Bone Changes Simulating Hyperparathyroidism

Singleton, Edward B.; Teng, Ching Tseng

doi:10.1148/78.3.388

Cited by 32 publications

(9 citation statements)

References 10 publications

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“…The demineralization of bones in PH, first reported by Reynold et al (1952), and thereafter by Kolb and Steinbach (1962), Singleton and Teng (1962), and by Zampa and Zucchelli (1965), was also present in the present case. Recently, Mazzuoli et al (1967) reported increased bone accretion rate and normal miscible calcium pool through the kinetic analysis (Heaney and Whedon, 1958) in the patients who had no bone demineralization.…”

Section: Discussionsupporting

confidence: 79%

A Case of Pseudohypoparathyroidism with Increased Bone Turnover and Demineralization

et al. 1969

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Section: Discussionsupporting

confidence: 79%

A Case of Pseudohypoparathyroidism with Increased Bone Turnover and Demineralization

et al. 1969

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“…Thirdly, several studies demonstrated PTH action on bone at least in some patients with PHP-Ia by radiographic and histological findings, and decreased bone mineral density [7,8,16,17]. Furthermore, in vitro, Ish-Shalom et al [10] showed that bone cells from patients with PHP-Ia had normal response to PTH administration.…”

Section: Discussionmentioning

confidence: 99%

A Pseudohypoparathyroidism Type Ia Patient with Normocalcemia

et al. 2008

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Abstract. Pseudohypoparathyroidism type Ia (PHP-Ia), one of 4 types of PHP, is a genetic disease characterized by clinical hypoparathyroidism caused by parathyroid hormone (PTH) resistance. In addition, patients with PHP-Ia show resistance to other hormones as well as Albright's hereditary osteodystrophy (AHO), a constellation of features including short stature, obesity, brachydactyly, ectopic ossifications, and/or mental retardation. Hypocalcemia is one of the hallmarks of PHP-Ia, but several PHP-Ia patients have been described to have normocalcemia. We encountered a 10-yearold girl with typical Albright's hereditary osteodystrophy with round face, short stature, brachydactyly, and obesity. Biochemical examination showed normocalcemia and increased PTH levels. Ellsworth-Howard test did not show any responses of urinary cAMP and phosphate. Based on these findings, she was diagnosed as having PHP-Ia with normocalcemia. Sequencing analysis of the GNAS gene identified a heterozygous missense mutation in exon 13 (R385H), which was previously reported in a PHP-Ia patient. The exact reason for her normocalcemia is not determined, but we must recognize heterogeneous biochemical findings even in PHP-Ia.

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“…The term pseudo pseudo HPT was used to describe this disorder. During the 1960's a third variant of this disease, with renal but without skeletal unresponsiveness to PTH, was described by Kolb and others and termed pseudohypohyperparathyroidism [11,12,15,17]. Because the latter individuals have a relatively normal skeletal response to elevated PTH and depressed calcium serum levels, they develop metabolic bone disease which is histologically similar or identical to the osteodystrophy seen in chronic renal failure.…”

Section: Discussionmentioning

confidence: 99%

Pseudohypoparathyroidism presenting as renal osteodystrophy

et al. 1980

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Pseudohypoparathyroidism (pseudo HPT) is the prototype of a group of diseases with end organ unresponsiveness to parathyroid hormone (PTH). Patients with the classic form of this disease have both renal and osseous resistance to PTH. We describe a rare variant of pseudo HPT with classic renal unresponsiveness to PTH but normal skeletal responsiveness to this hormone. The latter patients develop metabolic bone disease in response to depressed calcium and elevated PTH levels. Skeletal abnormalities are histologically and radiologically indistinguishable from renal osteodystrophy and these patients frequently present in childhood with symptoms relating to slipped capital femoral epiphyses. The latter radiologic findings, in the face of normal renal function or the classic somatic features of the syndrome, are highly suggestive of pseudo HPT with normal skeletal responsiveness to PTH.

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Pseudohypoparathyroidism with Bone Changes Simulating Hyperparathyroidism

Cited by 32 publications

References 10 publications

A Case of Pseudohypoparathyroidism with Increased Bone Turnover and Demineralization

A Case of Pseudohypoparathyroidism with Increased Bone Turnover and Demineralization

A Pseudohypoparathyroidism Type Ia Patient with Normocalcemia

Pseudohypoparathyroidism presenting as renal osteodystrophy

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