Prevalence Allusions of Albright’s Hereditary Osteodystrophy Syndrome in South Asia

Abstract

Albright's Hereditary Osteodystrophy (AHO) is a rare, complex genetic metabolic disorder that was first delineated by American endocrinologist Fuller Albright in 1942. This syndrome is characterized by physical features such as short stature, abnormal finger and toe bones, skin ossification, obesity, rounded facial appearance, flat nasal bridge, and in some cases, developmental and mental abnormalities. AHO is classified as a subtype of pseudohypoparathyroidism type 1A due to its association with resistance to parathyroid hormone. When AHO is inherited from parents, it leads to the development of the syndrome without hormonal issues, resulting in a condition known as Pseudo-Pseudo Hypoparathyroidism (PPHP). PPHP is inherited in an autosomal dominant manner, caused by a mutation in the GNAS gene. This gene is responsible for producing a subunit of a protein called a G protein, which regulates the activity and production of specific hormones, including parathyroid hormone. Globally, AHO is considered a rare syndrome, with a prevalence of 0.7 in 100 individuals. It is further classified into subtypes 1a, 1b, 1c, and 2 based on different phenotypes and underlying mechanisms. However, the purpose of this study is to investigate the rarity of the syndrome in the Asian subcontinent, specifically examining its prevalence, recent trends, and awareness within the selected demographic population. A survey-based approach was employed to gather data from several Asian countries. The findings of this study revealed significant variations in terms of gender distribution, family history, associated complications, Gs alpha subunit deficiency, and the age at which individuals are diagnosed with the syndrome. These variations underscore the need for a versatile approach to accurately diagnose and promptly treat individuals at risk of or already affected by the syndrome.