Pseudohypoparathyroidism (Albright Hereditary Osteodystrophy)

• Results from end organ resistance to parathyroid hormone
• 3 types exist, but type 1A (Albright Hereditary Osteodystrophy) is the most common

Albright Hereditary Osteodystrophy

• Get all the clinical and laboratory findings of true hypoparathyroidism, except that your PTH level will actually be elevated
• Have abnormal receptors to PTH, so get low Ca, high phosphorous, and high PTH
• Variable inheritance
• Phenotypic appearance: MR, short stature, obesity, round face, cataracts, short wide neck, cafe au lait (irregular borders), short 4th metacarpal,
• Treat: PO4 binders, High Ca diet, Vit D

CHLA Board Review 2005