Acrophobia in a Young Girl with Parathyroid Hormone Resistance (Pseudohypoparathyroidism).

Abstract

Pseudohypoparathyroidism (PHP) is an extremely rare group of disorders. It is a spectrum of disorders caused by end organ resistance to parathyroid hormone (PTH) and is represented by impaired signalling that activates cAMP dependent pathways via alpha subunit of G-protein (GS). It is characterised by hypocalcemia, hyperphosphatemia, raised PTH levels due to insensitivity to biological activity of PTH, and normal renal function tests. We describe a case of 10-year girl who presented with fear of falling down from heights. Her laboratory evaluation and skeletal survey showed evidence of PHP along with features of Albright's hereditary osteodystrophy (AHO) pointing towards the diagnosis of PHP type 1a.

• Authors: Mehwish Gilani, Asif Ali Memon, Naveed Asif, Nida Basharat
• Journal: Journal of the College of Physicians and Surgeons--Pakistan : JCPSP (J Coll Physicians Surg Pak) Vol. 28 Issue 9 Pg. S166-S168 (Sep 2018) ISSN: 1681-7168 [Electronic] Pakistan
• PMID: 30173686 (Publication Type: Case Reports, Journal Article)

Chemical References

• Parathyroid Hormone
• GTP-Binding Proteins

Topics

• Bone and Bones (pathology)
• Child
• Female
• GTP-Binding Proteins (blood, genetics)
• Humans
• Parathyroid Hormone (blood)
• Pseudohypoparathyroidism (diagnosis, genetics)