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Table 1 Historical Classification of PHP and PHP-related disorders

From: Pseudohypoparathyroidism: application of the Italian common healthcare-pathway for a homogeneous clinical approach and a shared follow up

  AHO Hormone resistance Heterotopic ossification PTH test response GNAS defect
PHP-Ia Yes Multiple: PTH, TSH, FSH/LH, GHRH Yes, superficial ↓cAMP
↓phosphaturia
Maternal inactivating
mutations
PPHP Yes No Yes, superficial Normal Paternal inactivating mutations
PHP-Ib No PTH, TSH No ↓cAMP
↓phosphaturia
Imprinting dysregulation
PHP-Ic Yes Multiple: PTH, TSH, FSH/LH Yes, superficial ↓cAMP
↓phosphaturia
Maternal inactivating
mutations
POH No No Yes, deep NA Paternal inactivating mutations
  1. Abbreviations: cAMP cyclic AMP; GHRH, GH releasing hormone; PTH parathyroid hormone, TSH thyroid-stimulating hormone, FSH/LH Follicle Stimulating Hormone/Luteinizing Hormone; POH progressive osseus heteroplasia