Abubakar A | Volume 1; Issue 1 (2023) | Mapsci-JCGH-1(1)-003 | Research Article
Citation: Abubakar A. Prevalence Allusions of Albright’s Hereditary Osteodystrophy Syndrome in South Asia. J Clin
Genet Hered. 2023;1(1):42-49.
DOI: https://doi.org/10.37191/Mapsci-JCGH-1(1)-003
Journal of Clinical Genetics and Heredity
Abubakar A, 2023- J Clin Genet Hered
Research Article
Prevalence Allusions of Albright’s
Hereditary Osteodystrophy
Syndrome in South Asia
Abubakar Abubakar
*
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.
Keywords: Albright’s hereditary osteodystrophy; X-linked dominant disorder; Autosomal dominant trait; Gs
alpha subunit deficiency; South Asian countries.
Student, MSc, Molecular and Human
Genetics, Garden City University,
Bangalore, Karnataka, India
*
Corresponding Author: Abubakar
Abubakar, Student, MSc, Molecular and
Human Genetics, Garden City University,
Bangalore, Karnataka, India.
Received Date: 06-24-2023
Accepted Date: 07-03-2023
Published Date: 07-28-2023
Copyright
©
2023 by Abubakar A. All rights
reserved. This is an open access article
distributed under the terms of the Creative
Commons Attribution License, which
permits unrestricted use, distribution, and
reproduction in any medium, provided the
original author and source are credited.