Article
Pseudohypoparathyroidism: its phenotypic variability and associated disorders in a large family.
The Quarterly journal of medicine - 1 Mar 1991
Faull C M, Welbury R R, Paul B, Kendall-Taylor P
Abstract excerpt
Pseudohypoparathyroidism is a complex disorder of renal resistance to parathyroid hormone the mechanism of which is unclear. It is often associated with skeletal abnormalities and there may also be other hormonal defects. This is an extensive endocrinological investigation of five of six affected members in two generations of one family. The phenotypic variability of the syndrome is explored: four members had...
Topics
- Adolescent
- Adult
- Bleeding Time
- Child, Preschool
- Female
- Gonads
- Humans
- Infant, Newborn
- Male
- Middle Aged
- Parathyroid Glands
- Pedigree