AHO

Albright's hereditary osteodystrophy(English)

  • a rare disorder with a wide range of signs and symptoms, including short stature, obesity, round face, subcutaneous ossifications, and brachydactyly. When the disorder is inherited from the mother, the features of AHO can be associated with resistance to certain hormones, in particular the parathyroid hormone). This is called pseudohypoparathyroidism type 1a (PHP1a). When inherited from the father, an individual will have AHO without any hormone issues, which is called pseudopseudohypoparathyroidism (PPHP). This condition is inherited in anautosomal dominant manner due to a mutation in the GNAS gene
  • PTH, PPHP
  • Congenital disorders, Hormone, Calcium
  • https://raredis…osteodystrophy/