Fuller Albright, MD (1900-1969), Albright’s hereditary osteodystrophy
Albright described a syndrome in children characterized by short stature, short neck, obesity, subcutaneous calcifications, shortened metacarpals with hypocalcemia and hyperphosphatemia (Endocrinology 1942; 30:922-32). He hypothesized that it was due to resistance to PTH, since exogenous PTH did not cause phosphaturia. Later pseudohypoparathyroidism type 1a was found due to a defective Gsα with failure to generate cAMP (J Clin Invest 1969; 48:832-834). A parent of origin effect occurs with paternal inheritance causing PHP with resistance to other hormones. Maternal inheritance causes PHP alone.
Albright described the similarity to the Seabright-Bantam chicken in which the male has female plumage. Later this was found due to aromatase excess in the chicken skin and not hormone resistance (Trans Assoc Am Physic 1991; 104:141-149).
Submitted by Alan D. Rogol, MD, Ph.D