Prof. Juppner of Boston presented recent data on this important theme. Pseudohy-
poparathyroid states are associated with serious pathological manifestations such as
Albright’s Hereditary Osteodystro-
phy, multiple hormone resistance,
mental retardation, hypocalcemia,
and hyperphosphatemia. Behind
these clinical pictures are specific
mutations of the GNAS gene, which
is fundamental for cell-level regulation of various hor-
mones, including PTH. These mutations can be genetically
transmitted via the paternal or maternal line, even in con-
ditions of heterozygosity. Mutations transmitted through
the paternal line generally manifest with less serious patho-
logical pictures than do mutations transmitted through the
maternal line. The principal forms of pseudohypoparathy-
roidism are PHP1A and PHP1B. The clinical pictures are mainly coincident, although with certain significant
differences linked above all to the presence or lack of PTH resistance, a factor which has a significant effect
on the phenotypic manifestation of the condition in terms of varying degrees of severity, from Albright’s
syndrome in its classic pathological presentation to forms of pseudohypoparathyroidism with no somatic
manifesta-
tions.
Fondazione
Internazionale
Menarini
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Harald W. Juppner
Boston - USA
Pseudohypoparathyroidism: a single syndrome with differ-
ent, genetically-determined phenotypical manifestations
What are the biohumoral parameters specific for diagnosis of pseudohypoparathy-
roidism? - - - What are the principal genetic mutations? - - - What are the genetic
differences that determine the different forms of pseudohypoparathyroidism?