Skeletal responsiveness in pseudohypoparathyroidism

Kidd, Gerald S.; Schaaf, Marcus; Adler, Robert A.; Lassman, M N; Wray, H. Linton

doi:10.1016/0002-9343(80)90270-3

Cited by 71 publications

(25 citation statements)

References 35 publications

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“…This was thought to result from the same abnormality in cAMP generation occurring in bone tissue. On the other hand, radiographic and histological findings [1,5,7,8,13,15] as well as diminished bone density [2] and elevated serum alkaline phosphatase activity [3] provided evidence of excessive PTH action on bone in at least some patients with PHP. To address the possibility that the skeletal system of patients with PHP may be affected to some extent by increased PTH secretion, we determined several indices of bone turnover and intact serum PTH in a large number of untreated patients with PHP and compared the results to subjects with low (hypoparathyroidism), normal (controls) and high (primary hyperparathyroidism) PTH secretion.…”

Section: Introductionmentioning

confidence: 99%

Biochemical markers of bone turnover, intact serum parathyroid hormone and renal calcium excretion in patients with pseudohypoparathyroidism and hypoparathyroidism before and during vitamin D treatment

et al. 1989

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In addition to the well-documented hyporesponsiveness of the kidney, resistance to parathyroid hormone (PTH) has been postulated for bone in pseudohypoparathyroidism type I (PHP). In some of these patients reduced bone density and even frank osteitis fibrosa suggest osteoclastic overactivity. To address the possibility that the skeletal system of patients with PHP may be affected by their increased PTH secretion we measured intact serum PTH and three biochemical markers of bone turnover in a large number of patients with PHP (n = 20). The results were compared with subjects with low (hypoparathyroidism, HP n = 29), normal (controls, n = 31) and high (primary hyperparathyroidism, 1 degree HPT, n = 13) PTH secretion. Both markers of osteoblastic bone formation, alkaline phosphatase activity and osteocalcin concentration in serum, and one index of osteoclastic bone degradation, the urinary hydroxyproline/creatinine ratio (OH-P/Cr), were decreased in HP and increased in 1 degree HPT, whereas only OH-P/Cr was elevated in patients with PHP. Although intact serum PTH was significantly more increased in PHP than in 1 degree HPT, the markers of bone turnover were not significantly different in these two groups, suggesting some bone resistance in the patients with PHP. In these subjects intact serum PTH was elevated even at normocalcaemia during vitamin D treatment with a negative correlation with the respective serum calcium concentration (r = -0.69, P less than 0.001), indicating an elevated set-point for the suppression of their parathyroid glands. OH-P/Cr was negatively related to serum calcium in PHP, it normalized in most patients during normocalcaemia induced by vitamin D treatment.(ABSTRACT TRUNCATED AT 250 WORDS)

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Section: Introductionmentioning

confidence: 99%

Biochemical markers of bone turnover, intact serum parathyroid hormone and renal calcium excretion in patients with pseudohypoparathyroidism and hypoparathyroidism before and during vitamin D treatment

et al. 1989

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“…Serum levels of PTH that are at the upper limits of the reference range are sufficient to enhance calcium reabsorption in the distal renal tubule, thus helping to prevent hypercalciuria 34 . However, PTH levels should not be too high, as long-standing PTH excess might have adverse effects on skeletal mineralization or on the growth plate 71,[180][181][182] . Accordingly, treatment with oral calcium and active vitamin D supplementation can be used to target a higher serum level of calcium than in patients with PTH-deficient hypocalcaemia, where treatment targets the low-normal or slightly reduced range of calcium.…”

Section: Management Of Pth Resistancementioning

confidence: 99%

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international consensus statement

Mantovani¹,

Lecumberri²,

Baştepe³

et al. 2018

EJEA

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Pseu do hy popar ath yroi dism (PHP) and related disorders are associated with a spectrum of abnormal physical characteristics as well as neurocognitive and endocrine abnormalities that are caused primarily by molecular defects that impair hormonal signalling via receptors that are coupled, through the α-subunit of the stimulatory G protein (G s α), to activation of adenylyl cyclase (Fig. 1). 6,7,20,48 * Abstract | This Consensus Statement covers recommendations for the diagnosis and management of patients with pseu do hy popar ath yroi dism (PHP) and related disorders, which comprise metabolic disorders characterized by physical findings that variably include short bones, short stature, a stocky build, early-onset obesity and ectopic ossifications, as well as endocrine defects that often include resistance to parathyroid hormone (PTH) and TSH. The presentation and severity of PHP and its related disorders vary between affected individuals with considerable clinical and molecular overlap between the different types. A specific diagnosis is often delayed owing to lack of recognition of the syndrome and associated features. The participants in this Consensus Statement agreed that the diagnosis of PHP should be based on major criteria, including resistance to PTH, ectopic ossifications, brachydactyly and early-onset obesity. The clinical and laboratory diagnosis should be confirmed by a molecular genetic analysis. Patients should be screened at diagnosis and during follow-up for specific features, such as PTH resistance, TSH resistance, growth hormone deficiency , hypogonadism, skeletal deformities, oral health, weight gain, glucose intolerance or type 2 diabetes mellitus, and hypertension, as well as subcutaneous and/or deeper ectopic ossifications and neurocognitive impairment. Overall, a coordinated and multidisciplinary approach from infancy through adulthood, including a transition programme, should help us to improve the care of patients affected by these disorders.

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“…In literature exists heterogeneity in the skeletal phenotype among patients with PHP, primarily those with PHP type 1b. In some cases is reported a clinical picture of accelerated subperiosteal resorption, osteitis fibrosa cystica and elevated bone turnover markers, such as that of hyperparathyroid bone disease 28 . On the other hand they have been described cases with no pathological findings at densitometry or mild osteopenia whereas occurrence of osteosclerosis at radiographs and bone histomorphometry has been also reported 4,29,30 .…”

Section: Adult Onset Pseudohypoparathyroidismmentioning

confidence: 99%

A case of Adult onset Pseudohypoparathyroidism yet to be resolved: “No money no genetics”

Koutroumpi¹,

Stratigou²,

Skodra³

et al. 2017

JRPMS

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Skeletal responsiveness in pseudohypoparathyroidism

Cited by 71 publications

References 35 publications

Biochemical markers of bone turnover, intact serum parathyroid hormone and renal calcium excretion in patients with pseudohypoparathyroidism and hypoparathyroidism before and during vitamin D treatment

Biochemical markers of bone turnover, intact serum parathyroid hormone and renal calcium excretion in patients with pseudohypoparathyroidism and hypoparathyroidism before and during vitamin D treatment

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international consensus statement

A case of Adult onset Pseudohypoparathyroidism yet to be resolved: “No money no genetics”

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