The disorder is characterized by a lack of responsiveness to parathyroid hormone, resulting in low serum calcium, high serum phosphate, and appropriately high serum parathyroid hormone.
Individuals with Albright’s hereditary osteodystrophy have short stature, characteristically shortened fourth and fifth metacarpals, rounded facies, and often mild mental retardation.
Albright’s hereditary osteodystrophy is commonly known as Pseudohypoparathyroidism because the kidney responds as if parathyroid hormone were absent. In fact, blood levels of parathyroid hormone are elevated in Pseudohypoparathyroidism due to the continued Hyperphosphatemia & Hypocalcemia.
Albright's hereditary osteodystrophy has an autosomal dominant maternal pattern of inheritance.
It is associated with epigeneticgenetic imprinting. Because of this the disease can occur when a mother with mild clinical symptoms or a de novo mutation of the maternal allele passes it to her offspring.
^Garavelli L, Pedori S, Zanacca C et al. (April 2005). "Albright's hereditary osteodystrophy (pseudohypoparathyroidism type Ia): clinical case with a novel mutation of GNAS1". Acta Biomed76 (1): 45–8. PMID16116826.
^Patten JL, Johns DR, Valle D et al. (May 1990). "Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy". N. Engl. J. Med.322 (20): 1412–9. doi:10.1056/NEJM199005173222002. PMID2109828.