Familial growth hormone releasing factor deficiency in pseudopseudohypoparathyroidism
. Arch Dis Child 1991;66:533-5.
Such and other legal incomprehensibilities cause me headache, numbness, as well as hand and foot spasm, that I sometimes suspect that I am afflicted with pseudopseudohypoparathyroidism
Cognitive impairment is prevalent in pseudohypoparathyroidism type Ia, but not in pseudopseudohypoparathyroidism: possible cerebral imprinting of Gsalpha.
Body mass index differences in pseudohypoparathyroidism type 1a versus pseudopseudohypoparathyroidism may implicate paternal imprinting of Galpha(s) in the development of human obesity.
AHO patients who have normal end-organ responses to parathyroid hormone (PTH) constitute the rare disorder pseudopseudohypoparathyroidism (PPHP).
This case has the classic findings of Albright's facies with short fourth metacarpals and metatarsals, normal serum calcium, phosphate and PTH levels diagnostic of pseudopseudohypoparathyroidism with an added unusual feature of hypogonadism.
PHP is classified into IA (classical presentation), IB, IC, II and pseudopseudohypoparathyroidism. (34) Only three papers, indexed in MEDLINE, reporting the association between HTLV-1 and PHP, were published.
A patient with acute-onset HAM/TSP after blood transfusion complicated with pseudopseudohypoparathyroidism. Intern Med.
AHO without any evidence of hormonal resistance, called pseudopseudohypoparathyroidism
, is due to paternal loss-of-function mutations in GNAS.
Formerly, the term pseudopseudohypoparathyroidism
(PPHP), was used for patients who display AHO features and carry heterozygous inactivating Gsa mutations without evidence of hormone resistance.
When the mutant allele is paternal in origin, as it is in pseudopseudohypoparathyroidism
, obesity is often not present or it is less severe.
Additionally, mild resistance to PTH was described in patients having a paternal GNAS mutation, known as pseudopseudohypoparathyroidism
(5), demonstrating that the hormonal resistance is not restricted to the maternally inherited mutations.