Dc. Scott et W. Hung, PSEUDOHYPOPARATHYROIDISM TYPE-IA AND GROWTH-HORMONE DEFICIENCY IN 2 SIBLINGS, Journal of pediatric endocrinology & metabolism, 8(3), 1995, pp. 205-207
Pseudohypoparathyroidism type Ia (PHP type Ia) is associated with seve
ral endocrinopathies, We describe two siblings with PHP type Ia, hypot
hyroidism and growth hormone deficiency (GHD). To our knowledge, these
patients are the first to have PHP type Ia and GHD. The defect which
is most likely responsible for the three endocrinopathies is a deficie
ncy of the stimulatory guanine nucleotide-binding regulatory protein,
Gs.