Classification, Clinical and Molecular features of Pseudohypoparathyroidism [10,18].

Table 1: Classification, Clinical and Molecular features of Pseudohypoparathyroidism [10,18].

Types	OMIM Number [28]	Hormone Resistance	AHO	Response to PTH	GNAS Abnormality	GNAS Defects
PHP 1A	103580	PTH, TSH, LH, FSH, GHRH	Yes	↓ cAMP ↓ U PO4	Maternal inactivating mutation	Gsα mutations
PHP 1B	603233	PTH, TSH	No	↓ cAMP ↓ U PO4	Imprinting dysregulation	STX16 or NESP55 deletions affecting GNAS imprinting
PHP 1C	612462	PTH, TSH, LH, FSH	Yes	↓ cAMP ↓ U PO4	Undefined; few maternal inactivating mutations	Gsα mutations
PPHP	612463	None	Yes	Normal	Paternal inactivating mutation	Gsα mutations
PHP 2	203330	PTH and variable multi-hormone resistance	No	Normal cAMP response, blunted phosphaturic response	Undefined	Undefined

OMIM: Online Mendelian Inheritance of Man; AHO: Albright's Hereditary Osteodystrophy; PHP: Pseudohypoparathyroidism; Gsα: Alpha Subunit of The Stimulatory G Protein; LH: Luteinizing Hormone; FSH: Follicle Stimulating Hormone; GHRH: Growth Hormone-Releasing Hormone; cAMP: Cyclic Adenosine Monophosphate; PPHP: Pseudopseudohypoparathyroidism; STX 16: Syntaxin 16; NESP 55: Neuroendocrine Secretory Protein 55.