Albrights Hereditary Osteodystrophy

+Albright's Hereditary Osteodystrophy (AHO) is a rare [Genetic Disorder](/wiki/genetic_disorder) marked by distinctive skeletal and developmental features. It stems from cellular resistance to certain hormones, particularly [Parathyroid Hormone](/wiki/parathyroid_hormone), disrupting [Calcium](/wiki/calcium) and [Phosphate](/wiki/phosphate) balance in the body.

+### Causes

+AHO is typically caused by mutations in the *GNAS* [Gene](/wiki/gene), which encodes a protein involved in [Signal Transduction](/wiki/signal_transduction) within cells. It is inherited in an [Autosomal Dominant](/wiki/autosomal_dominant) pattern, though the clinical presentation can vary depending on which parent the affected gene is inherited from (parental imprinting). The mutation leads to reduced activity of G-proteins, crucial for [Hormone](/wiki/hormone) signaling. This reduction in activity causes target tissues to become resistant to the effects of various hormones, not just PTH.

+### Symptoms

+The clinical presentation of AHO is diverse, but common features include short stature, a round face, and [Obesity](/wiki/obesity). Characteristic skeletal abnormalities often include brachydactyly (shortening of metacarpal and metatarsal bones), leading to dimples over the knuckles or toes. Subcutaneous [Calcification](/wiki/calcification) and [Ossification](/wiki/ossification) (bone formation in soft tissues) are also frequently observed. Some individuals may experience varying degrees of [Intellectual Disability](/wiki/intellectual_disability). When this genetic condition is accompanied by [Hormone Resistance](/wiki/hormone_resistance) to [Parathyroid Hormone](/wiki/parathyroid_hormone), leading to [Hypocalcemia](/wiki/hypocalcemia) and [Hyperphosphatemia](/wiki/hyperphosphatemia), it is known as [Pseudohypoparathyroidism](/wiki/pseudohypoparathyroidism) Type 1a. Resistance to other hormones, such as [Thyroid Stimulating Hormone](/wiki/thyroid_stimulating_hormone) (leading to [Hypothyroidism](/wiki/hypothyroidism)) or [Gonadotropins](/wiki/gonadotropin), can also occur.

+Albright's Hereditary Osteodystrophy (AHO) is a rare [Genetic Disorder](/wiki/genetic_disorder) marked by distinctive skeletal and developmental features. It stems from cellular resistance to certain hormones, particularly [Parathyroid Hormone](/wiki/parathyroid_hormone), disrupting calcium and phosphate balance in the body.

+## See also

+- [Pseudohypoparathyroidism](/wiki/pseudohypoparathyroidism)

+- [Calcium Metabolism](/wiki/calcium_metabolism)

+- [Endocrine System](/wiki/endocrine_system)