Pseudohypoparathyroidism Type la and GH Deficiency in Two Siblings

DC Scott, W Hung - Journal of Pediatric Endocrinology and …, 1995 - degruyter.com
DC Scott, W Hung
Journal of Pediatric Endocrinology and Metabolism, 1995degruyter.com
Pseudohypoparathyroidism type la (PHP type la) is associated with several
endocrinopathies. We describe two siblings with PHP type la, hypothyroidism and growth
hormone deficiency (GHD). To our knowledge, these patients are the first to have PHP type
la and GHD. The defect which is most likely responsible for the three endocrinopathies is a
deficiency of the stimulatory guanine nucleotidebinding regulatory protein, Gs.
Abstract
Pseudohypoparathyroidism type la (PHP type la) is associated with several endocrinopathies. We describe two siblings with PHP type la, hypothyroidism and growth hormone deficiency (GHD). To our knowledge, these patients are the first to have PHP type la and GHD. The defect which is most likely responsible for the three endocrinopathies is a deficiency of the stimulatory guanine nucleotidebinding regulatory protein, Gs.
De Gruyter