Does PPHP include the Albright hereditary osteodystrophy phenotype?

Does PPHP include the Albright hereditary osteodystrophy phenotype?

• A. No
• B. Sometimes
• C. Yes
• D. Not specified

Answer: (C)

PPHP is part of the same GNAS-related spectrum that produces Albright hereditary osteodystrophy. The defining skeletal and soft-tissue features—such as brachydactyly with short metacarpals, rounded face, and sometimes subcutaneous calcifications—constitute the AHO phenotype and can be present even when there is no hormone resistance. In PPHP, the mutation is on the paternal allele with imprinting, so calcium and phosphate levels are normal and PTH signaling isn’t impaired, but the AHO physical features still appear. Therefore, PPHP includes the Albright hereditary osteodystrophy phenotype.

PPHP is part of the same GNAS-related spectrum that produces Albright hereditary osteodystrophy. The defining skeletal and soft-tissue features—such as brachydactyly with short metacarpals, rounded face, and sometimes subcutaneous calcifications—constitute the AHO phenotype and can be present even when there is no hormone resistance. In PPHP, the mutation is on the paternal allele with imprinting, so calcium and phosphate levels are normal and PTH signaling isn’t impaired, but the AHO physical features still appear. Therefore, PPHP includes the Albright hereditary osteodystrophy phenotype.