Pseudohypoparathyroidism occurs when there is end-organ resistance to parathyroid hormone (PTH).
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Epidemiology
Pseudohypoparathyroidism has an estimated prevalence of 1.1 per 100,000 people 6.
Clinical Presentation
hypocalcemia and tetany
short stature
developmental delay
Pathology
Subtypes
There are several recognized subtypes which include:
-
type I: abnormal cyclic adenosine monophosphate (cAMP) response to PTH stimulation
type Ia (Albright hereditary osteodystrophy (AHO)): has characteristic phenotypical features
type Ib: lacks phenotypical features
type II: normal cAMP response to PTH stimulation
Markers
PTH level: high
serum phosphate level: high
serum calcium level: low
Radiographic features
Musculoskeletal manifestations
short stature
-
short metacarpals (inclusive of short 4th/5th metacarpals)
short metatarsals
exostoses: short metaphyseal or more central and perpendicular to the long axis of a bone
broad bones with coned epiphyses
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