Pseudohypoparathyroidism: report on a family with four affected sisters

A family consisting of a mother, a father with probable pseudopseudohypoparathyroidism (PPHP), two normal daughters, and four daughters with pseudohypoparathyroidism (PHP) have been observed for more than 15 years at North Carolina Memorial Hospital (NCMH). The studies performed on family members in...

Full description

Saved in:
Bibliographic Details
Published inArchives of internal medicine (1960) Vol. 139; no. 2; p. 204
Main Authors Kinard, R E, Walton, J E, Buckwalter, J A
Format Journal Article
LanguageEnglish
Published United States 01.02.1979
Subjects
Adolescent
Adult
Blood Group Antigens
Calcium - blood
Cyclic AMP - urine
Female
Hand - diagnostic imaging
Humans
Male
Parathyroid Hormone - blood
Pedigree
Phosphorus - blood
Pseudohypoparathyroidism - diagnosis
Pseudohypoparathyroidism - genetics
Pseudopseudohypoparathyroidism - diagnosis
Pseudopseudohypoparathyroidism - genetics
Radiography, Thoracic
Skull - diagnostic imaging
Online AccessGet more information

Cover

More Information
Summary:A family consisting of a mother, a father with probable pseudopseudohypoparathyroidism (PPHP), two normal daughters, and four daughters with pseudohypoparathyroidism (PHP) have been observed for more than 15 years at North Carolina Memorial Hospital (NCMH). The studies performed on family members included (1) roentgenographic examinations of the chest, skull, hands, and soft tissues; (2) serum calcium, phosphorus, and immunoreactive parathyroid hormone measurements; (3) urinary cyclic adenosine 3'5'-monophosphate determinations following parathyroid injection; and (4) HLA and blood-type determinations. We review the genetic aspects of PHP. The findings in this family suggest an autosomal dominant mode of transmission in PHP.
ISSN:0003-9926
DOI:10.1001/archinte.1979.03630390056022