Albright's Hereditary Osteodystrophy

Publisher Website
Google Scholar
Abstract
A family is presented in which Albright''s hereditary osteodystrophy (AHO) occurs in at least 2 members. The daughter is the propositus with pseudophypoparathyroidism representing the complete expression of AHO. Her mother, Case, 2, is a forme fruste presenting only subcutaneous calcification and dwarfism. A question of paternal involvement is presented but not resolved. The kindred pattern is consistent with a sex-linked dominant mode of inheritance. Resistance to parathyroid extract was proven in the propositus by a course of intramuscular parathyroid extract. In this regard, the pitfalls of the Ellsworth-Howard test is stressed and the usefulness of intramuscular parathyroid extract is discussed. Preliminary studies of bone remodelling by in vivo tetracycline labelling and subsequent rib biopsy showed a general decrease in bone turnover and were interpreted to be consistent with decreased activity of both primordial and differentiated bone cells in both subjects. The propositus had morphologically normal parathyroid tissue. Immunologic studies indicated the presence of a substance immunologically similar to human parathyroid hormone in her parathyroid tissue. The basis of parathyroid hormone resistance rests probably on intrinsic end-organ defects. Other forms of parathyroid hormone resistance were mentioned in a discussion of some hypothetical metabolic links among them.