What is albright herediter osteodistrofisi?

Albright hereditary osteodystrophy (AHO) is a rare genetic disorder that affects bone development and mineralization. It is caused by mutations in the GNAS gene, which encodes for the G protein alpha subunit, leading to abnormal signaling pathways in various tissues.

Symptoms of AHO can vary widely, but common features include short stature, rounded face, obesity, subcutaneous calcifications, and skeletal abnormalities such as bowing of the legs and shortening of the fourth and fifth metacarpals. Patients with AHO may also have hormonal imbalances, including resistance to parathyroid hormone and thyroid-stimulating hormone.

AHO is inherited in an autosomal dominant pattern, meaning that a person with one copy of the mutated gene will have the disorder. However, some cases of AHO may occur sporadically, without any family history.

Treatment for AHO is based on addressing specific symptoms, such as hormonal imbalances or skeletal abnormalities, as they arise. Regular monitoring of bone density and calcium levels is important to prevent fractures and other complications. Genetic counseling may also be offered to affected individuals and their families.