The studies performed on family members included (1) roentgenographic examinations of the chest, skull, hands, and soft tissues; (2) serum calcium, phosphorus, and immunoreactive parathyroid hormone measurements; (3) urinary cyclic adenosine 3'5'-monophosphate determinations following parathyroid injection; and (4) HLA and blood-type determinations.We review the genetic aspects of PHP.
The dermatoglyphic features of a mother and daughter with pseudohypoparathyroidism were compared with those of 19 other reported PHP cases and with findings typical of 45,X Turner syndrome.
The dermatoglyphic features of a mother and daughter with pseudohypoparathyroidism were compared with those of 19 other reported PHP cases and with findings typical of 45,X Turner syndrome.
The dermatoglyphic features of a mother and daughter with pseudohypoparathyroidism were compared with those of 19 other reported PHP cases and with findings typical of 45,X Turner syndrome.
1964), we argue that published accounts and our own cases provide evidence that the condition is related to pseudo-hypoparathyroidism (PHP) and, therefore, may be due to a defect in a guanine nucleotide binding protein.
Mutations in the GNAS1 gene leading to Gs alpha protein deficiency are known to be associated with pseudohypoparathyroidism Ia (Albright hereditary osteodystrophy) and certain pituitary tumors with acromegaly.
A mother with pseudopseudohypoparathyroidism and her short son showed poor spontaneous growth hormone secretion, and provocation tests suggested a deficiency of growth hormone releasing factor.
Cell membranes from patients with PHP type Ia and from patients with pseudoPHP contained levels of immunoactive Gs alpha that were equivalently reduced (43 +/- 4% vs. 42 +/- 5%, respectively).
Cell membranes from patients with PHP type Ia and from patients with pseudoPHP contained levels of immunoactive Gs alpha that were equivalently reduced (43 +/- 4% vs. 42 +/- 5%, respectively).
Cell membranes from patients with PHP type Ia and from patients with pseudoPHP contained levels of immunoactive Gs alpha that were equivalently reduced (43 +/- 4% vs. 42 +/- 5%, respectively).
We examined the expression of the alpha subunit of the stimulatory GTP-binding protein (Gs) in fibroblasts of subjects with pseudohypoparathyroidism (PHP) type Ia by transfer blot hybridization and S1 nuclease analyses.
Seven patients with pseudohypoparathyroidism had no features of AHO (AHO-), no increase of urinary cAMP excretion after exogenous PTH, normal PTH peptide levels and N-protein activity, but elevated 25-hydroxyvitamin D and decreased 1,25-dihydroxyvitamin D concentrations.
Multiple hormone resistance in many patients with pseudohypoparathyroidism (PHP) type Ia and Albright's hereditary osteodystrophy (AHO) is associated with deficient activity of the stimulatory guanine nucleotide-binding protein (Gs) of adenylate cyclase.
We think that this patient demonstrates that hypomagnesemia can mask the laboratory presentation of pseudohypoparathyroidism by suppressing secretion of parathormone and further demonstrates that in pseudohypoparathyroidism the parathyroid gland retains its physiologic response to hypomagnesemia.
Although PPHP does not have the biochemical features of hypocalcemia and elevated parathyroid hormone levels as seen in pseudohypoparathyroidism, it seems from this case to share the potential for multiple endocrine neoplasia seen in a number of metabolic disorders in which pheochromocytoma may be a prominent manifestation.