Tag Archives: pseudohypoparathyroidism

A Rare Case of Albright’s Hereditary Osteodystrophy presenting as Recurrent Hypocalcemic Tetany (Published)

An internist with an eagle’s eye can diagnose many hidden disease through careful examination. One such hereditary metabolic disorder is Albright’s Hereditary Osteodystrophy (AHO). Characteristic presentations in an individual affected by AHO were short stature, obesity, mild mental retardation and brachydactyly especially of 4th and 5th 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 hypocalcaemia, 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 22-year-old female patient with AHO with distinctive physical characteristics who presented to us with recurrent hypocalcaemic tetany.

Citation: Gomes R.R. (2022) A Rare Case of Albright’s Hereditary Osteodystrophy presenting as Recurrent, Hypocalcemic Tetany, International Journal of Dentistry, Diabetes, Endocrinology and Oral Hygiene, Vol. 4, No,2, pp, 28-34

Keywords: Albright hereditary osteodystrophy (AHO)., brachydactyly, hyperphosphatemia, hypocalcaemia, pseudohypoparathyroidism