Pseudohypoparathyroidism
Disclosures
- updated 18 Aug 2022:
Nothing to disclose
Updates to Article Attributes
Body
was changed:
Pseudohypoparathyroidism occurs when there is end-organ resistance to parathyroid hormone (PTH).
Epidemiology
Pseudohypoparathyroidism has an estimated prevalence of 1.1 per 100,000 people 6.
Clinical Presentation
hypocalcaemia and tetany
short stature
developmental delay
Pathology
Subtypes
There are several recognised subtypes which include:
-
type I: abnormal
cAMPcyclic adenosine monophosphate (cAMP) response to PTH stimulationtype 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
CNS & head and neck manifestations
-<li>hypocalcaemia and tetany</li>-<li>short stature</li>-<li>developmental delay</li>- +<li><p>hypocalcaemia and tetany</p></li>
- +<li><p>short stature</p></li>
- +<li><p>developmental delay</p></li>
-<strong>type I:</strong> abnormal cAMP response to PTH stimulation<ul>-<li>-<strong>type Ia</strong> (<a href="/articles/albright-hereditary-osteodystrophy">Albright hereditary osteodystrophy (AHO)</a>): has characteristic phenotypical features</li>-<li>-<strong>type Ib:</strong> lacks phenotypical features</li>- +<p><strong>type I:</strong> abnormal cyclic adenosine monophosphate (cAMP) response to PTH stimulation</p>
- +<ul>
- +<li><p><strong>type Ia</strong> (<a href="/articles/albright-hereditary-osteodystrophy">Albright hereditary osteodystrophy (AHO)</a>): has characteristic phenotypical features</p></li>
- +<li><p><strong>type Ib:</strong> lacks phenotypical features</p></li>
-<li>-<strong>type II:</strong> normal cAMP response to PTH stimulation</li>- +<li><p><strong>type II:</strong> normal cAMP response to PTH stimulation</p></li>
-<li>PTH level: high</li>-<li>serum phosphate level: high</li>-<li>serum calcium level: low </li>- +<li><p>PTH level: high</p></li>
- +<li><p>serum phosphate level: high</p></li>
- +<li><p>serum calcium level: low </p></li>
-<li>short stature</li>-<li><a title="Obesity" href="/articles/obesity">obesity</a></li>- +<li><p>short stature</p></li>
- +<li><p><a href="/articles/obesity" title="Obesity">obesity</a></p></li>
-<a href="/articles/brachydactyly">brachydactyly</a><ul>-<li>short metacarpals (inclusive of <a href="/articles/shortening-of-the-fourthfifth-metacarpals-1">short 4<sup>th</sup>/5<sup>th</sup> metacarpals</a>)</li>-<li>short metatarsals</li>- +<p><a href="/articles/brachydactyly">brachydactyly</a></p>
- +<ul>
- +<li><p>short metacarpals (inclusive of <a href="/articles/shortening-of-the-fourthfifth-metacarpals-1">short 4<sup>th</sup>/5<sup>th</sup> metacarpals</a>)</p></li>
- +<li><p>short metatarsals</p></li>
-<li><a href="/articles/soft-tissue-calcification-2">soft tissue calcification</a></li>-<li>-<a title="Exostoses" href="/articles/exostosis">exostoses</a>: short metaphyseal or more central and perpendicular to the long axis of a bone</li>-<li>broad bones with <a href="/articles/coned-epiphyses">coned epiphyses</a>-</li>- +<li><p><a href="/articles/soft-tissue-calcification-2">soft tissue calcification</a></p></li>
- +<li><p><a href="/articles/exostosis" title="Exostoses">exostoses</a>: short metaphyseal or more central and perpendicular to the long axis of a bone</p></li>
- +<li><p>broad bones with <a href="/articles/coned-epiphyses">coned epiphyses</a></p></li>
-<li><a href="/articles/basal-ganglia-calcification">basal ganglia calcification</a></li>-<li>-<a href="/articles/sclerochoriodal-calcification">sclerochoroidal calcification</a> <sup>4</sup>-</li>-<li><a href="/articles/deep-white-matter-calcification">deep white matter calcification</a></li>- +<li><p><a href="/articles/basal-ganglia-calcification">basal ganglia calcification</a></p></li>
- +<li><p><a href="/articles/sclerochoriodal-calcification">sclerochoroidal calcification</a> <sup>4</sup></p></li>
- +<li><p><a href="/articles/deep-white-matter-calcification">deep white matter calcification</a></p></li>
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