Pseudopseudohypoparathyroidism

It is more properly Albright hereditary osteodystrophy, although without resistance of parathyroid hormone (PTH), as frequently seen in that affliction.

[2] It can be considered a variant of Albright hereditary osteodystrophy (pseudohypoparathyroidism type 1A),[3] as they present with the same constellation of signs and symptoms, including short stature, brachydactyly, subcutaneous calcification, and obesity.

[7] A male with pseudohypoparathyroidism has a 50% chance of passing on the defective GNAS gene to his children, although in an imprinted, inactive form.

Since the maternally-derived GNAS1 gene is functional, renal handling of calcium and phosphate is normal, and homeostasis is maintained in pseudopseudohypoparathyroidism.

[citation needed] The diagnosis is based on the presence of the Albright hereditary osteodystrophy pseudotype but without the PTH resistance.

Protein GNAS