Open AccessAlbright Hereditary Osteodystrophy: A Case Report
Author(s) -
Deepa Hugar,
Sangameshwar Sajjanshetty,
Santosh Hugar,
Megha Kadani
Publication year - 2014
Publication title -
journal of clinical and diagnostic research
Language(s) - Uncategorized
Resource type - Journals
eISSN - 2249-782X
pISSN - 0973-709X
DOI - 10.7860/jcdr/2014/10913.5041
Subject(s) - pseudohypoparathyroidism , brachydactyly , medicine , osteodystrophy , hyperphosphatemia , short stature , endocrinology , parathyroid hormone , calcium
A dental practitioner with an eagle's eye can diagnose many hidden disease through careful examination of the oral cavity. One such hereditary metabolic disorder is Albright hereditary osteodystrophy (AHO). Characteristic presentations in an individual affected by AHO were short stature, obesity and brachydactyly especially of 4(th) and 5(th) digits, which are the phenotypic features of genetic mutation. Pseudohypoparathyroidism (PHP) is characterized by inability of the body to respond appropriately to parathormone, mainly characterized by hypocalcemia, increased serum parathormone concentration, insensitivity to the biological activity of parathormone and hyperphosphatemia. AHO when seen in association with resistance to parathormone (PTH), it is called PHP. Here is, a case report of 32-year-old male patient with AHO with distinctive physical characteristics and oral manifestations.