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</div><div><span>Pseudohypoparathyroidism</span></div></div>
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</noscript></div><div class="main"><div id="ency_summary"><p>Pseudohypoparathyroidism (PHP) is a genetic disorder in which the body fails to respond to parathyroid hormone. </p><p>A related condition is <a test="test" href="./000385.htm">hypoparathyroidism</a>, in which the body does not make enough parathyroid hormone. </p></div><section><div class="section"><div class="section-header"><div class="section-title"><h2>Causes</h2></div><div class="section-button"><button type="submit" aria-controls="section-1" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-1"><p>The parathyroid glands produce parathyroid hormone (PTH). PTH helps regulate calcium, phosphorus, and vitamin D levels in the blood and is important for bone health.</p><p>If you have PHP, your body produces the right amount of PTH, but is resistant to its effect. This causes low blood calcium levels and high blood phosphate levels.</p><p>PHP is caused by abnormal genes. There are different types of PHP. All forms are rare and are usually diagnosed in childhood.</p><ul><li>Type 1a is inherited in an <a test="test" href="./002049.htm">autosomal dominant manner</a>. That means only one parent needs to pass you the variant gene for you to have the condition. It is also called Albright hereditary osteodystrophy. The condition causes short stature, round face, obesity, developmental delay, and short hand bones. Symptoms depend on whether you inherit the gene from your mother or father.</li><li>Type 1b involves resistance to PTH only in the kidneys. Less is known about type 1b than type 1a. Calcium in the blood is low, but there are none of the other characteristic features of Albright hereditary osteodystrophy.</li><li>Type 2 also involves low blood calcium and high blood phosphate levels. People with this form do not have the physical traits common to people with Type 1a. The genetic abnormality that causes it is not known. It is different from Type 1b in how the kidney responds to high PTH levels.</li></ul></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Symptoms</h2></div><div class="section-button"><button type="submit" aria-controls="section-2" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-2"><p>Symptoms are related to a low level of calcium and include:</p><ul><li><a test="test" href="./001001.htm">Cataracts</a></li><li>Dental problems</li><li>Numbness</li><li><a test="test" href="./003200.htm">Seizures</a></li><li>Tetany (a collection of symptoms including muscle twitches and hand and foot cramps and muscle spasms) </li></ul><p>People with Albright hereditary osteodystrophy may have the following symptoms:</p><ul><li>Calcium deposits under the skin</li><li>Dimples that can replace knuckles on affected fingers</li><li>Round face and short neck</li><li>Short hand bones, especially the bone below the 4th finger</li><li>Short height </li></ul></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Exams and Tests</h2></div><div class="section-button"><button type="submit" aria-controls="section-3" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-3"><p>Blood tests will be done to check <a test="test" href="./003477.htm">calcium</a>, <a test="test" href="./003478.htm">phosphorus</a>, and <a test="test" href="./003690.htm">PTH</a> levels. You may also need urine tests.</p><p>Other tests may include:</p><ul><li>Genetic testing</li><li><a test="test" href="./003791.htm">Head MRI</a> or <a test="test" href="./003786.htm">CT scan of the brain</a></li></ul></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Treatment</h2></div><div class="section-button"><button type="submit" aria-controls="section-4" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-4"><p>Your health care provider will recommend calcium and vitamin D supplements to maintain a proper blood calcium level. If the blood phosphate level is high, you may need to follow a low-phosphorus diet or take medicines called phosphate binders (such as calcium carbonate or calcium acetate). Treatment is usually life-long.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Outlook (Prognosis)</h2></div><div class="section-button"><button type="submit" aria-controls="section-5" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-5"><p>Low blood calcium in PHP is usually milder than in other forms of hypoparathyroidism, but the severity of symptoms can be different between different people.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Possible Complications</h2></div><div class="section-button"><button type="submit" aria-controls="section-6" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-6"><p>People with type 1a PHP are more likely to have other endocrine system problems (such as <a test="test" href="./000353.htm">hypothyroidism</a> and <a test="test" href="./001195.htm">hypogonadism</a>).</p><p>PHP may be connected to other hormone problems, resulting in:</p><ul><li>Low sex drive</li><li>Slow sexual development</li><li>Low energy levels</li><li>Weight gain </li></ul></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>When to Contact a Medical Professional</h2></div><div class="section-button"><button type="submit" aria-controls="section-7" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-7"><p>Contact your provider if you or your child have any symptoms of a low calcium level or pseudohypoparathyroidism.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Alternative Names</h2></div><div class="section-button"><button type="submit" aria-controls="section-Alt" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-Alt"><p>Albright hereditary osteodystrophy; Types 1A and 1B pseudohypoparathyroidism; PHP</p></div></div></section><section><div class="section sec-mb"><div class="section-header"><div class="section-title"><h2>Images</h2></div><div class="section-button"><button type="submit" aria-controls="section-tnails" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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<li><img src="//medlineplus.gov/ency/images/ency/tnails/1093t.jpg" alt="Endocrine glands" title="Endocrine glands" class="side-img"/><a href="../imagepages/1093.htm">Endocrine glands</a></li>
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<li><img src="//medlineplus.gov/ency/images/ency/tnails/8890t.jpg" alt="Parathyroid glands" title="Parathyroid glands" class="side-img"/><a href="../imagepages/8890.htm">Parathyroid glands</a></li>
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</ul></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>References</h2></div><div class="section-button"><button type="submit" aria-controls="section-Ref" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-Ref"><p>Bastepe M, Juppner H. Pseudohypoparathyroidism, Albright's hereditary osteodystrophy, and progressive osseous heteroplasia: disorders caused by inactivating GNAS mutations that reduce Gsa activity. In: Robertson RP, ed. <em>DeGroot's Endocrinology</em>. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 57.</p><p>Hanley PC, Doyle DA. Pseudohypoparathyroidism. In: Kliegman RM, St. Geme JW, Blum NJ, et al, eds. <em>Nelson Textbook of Pediatrics</em>. 22nd ed. Philadelphia, PA: Elsevier; 2025:chap 612.</p><p>Thakker RV. The parathyroid glands, hypercalcemia, and hypocalcemia. In: Goldman L, Cooney KA, eds. <em>Goldman-Cecil Medicine</em>. 27th ed. Philadelphia, PA: Elsevier; 2024:chap 227.</p></div></div></section>
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<section><div class="section"><div class="section-header"><div class="section-title"><h2>Review Date 5/20/2024</h2></div><div class="section-button"><button type="submit" aria-controls="section-version" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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<div id="section-version" class="section-body"><p>Updated by: Sandeep K. Dhaliwal, MD, board-certified in Diabetes, Endocrinology, and Metabolism, Springfield, VA. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. </p>
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