Vanderbilt Pseudohypoparathyroidism Research Group

03/17/2025

PHP Guidelines:
1. Children 5 and under should have thyroid labs checked at least every 6 months
2. The decision to treat hypothyroidism, the dosage of levothyroxine and the therapeutic goals should be the same as for any patient with hypothyroidism

This Consensus Statement gives recommendations for the diagnosis and management of patients with pseudohypoparathyroidism and related disorders. A coordinated and multidisciplinary approach from infancy through adulthood is recommended to improve the care of these patients.

03/12/2025

PHP Guidelines:
Phosphate binders (other than calcium) are rarely, if ever, indicated in the management of hyperphosphataemia

This Consensus Statement gives recommendations for the diagnosis and management of patients with pseudohypoparathyroidism and related disorders. A coordinated and multidisciplinary approach from infancy through adulthood is recommended to improve the care of these patients.

02/28/2025

PHP Guidelines:
1. A one time renal ultrasound to screen for kidney calcifications is recommended in the late teens/early adulthood.
2. Brain MRIs are only recommended if there are concerning symptoms.
3. Eye exams for cataracts are recommended.

02/25/2025

PHP Guidelines:
1. Patients should have lab tests (PTH, calcium, etc.) every 6 months in childhood and at least yearly in adults
2. If PTH/phos levels are rising, or if the PTH is more than twice the upper limit of normal, treatment with calcitriol should be considered.
https://pmc.ncbi.nlm.nih.gov/articles/PMC6541219/

02/22/2025

PHP GUIDELINES
1. Diagnosis is mainly clinical, but genetic testing should be offered
2. Physicians can use the figure 2 algorithm to choose a genetic test
https://pmc.ncbi.nlm.nih.gov/articles/PMC6541219/

02/21/2025

Over the next few weeks, we will review highlights from the PHP Diagnosis and Management Guidelines!

This Consensus Statement covers recommendations for the diagnosis and management of patients with pseudohypoparathyroidism (PHP) and related disorders, which comprise metabolic disorders characterized by physical findings that variably include short ...

01/29/2025

The remote monitoring study is looking for just a few more patients with PHP1A. Check out the pinned post on our page or go to https://redcap.link/remote_hyperglycemia_screening_a to see if you are eligible!

11/01/2024

Genetic testing can be helpful for accurate diagnosis and appropriate treatment. Here is an example of a family with non-functioning parathyroid hormone who was initially thought to have PHP1B.

High PTH in the presence of congenital hypocalcemia is not always due to receptor or post-receptor defect and can be due to a biologically inactive mutated PTH. In such cases, treatment with teriparatide may result in stabilization of biochemical profile and improvement in quality of life.

09/24/2024

Don't forget to check out the two enrolling research studies we have pinned at the top of our page!

09/04/2024

Researchers in France investigated gastrointestinal symptoms in patients with PHP. Overall, they found constipation was a common issue.

Our work shows for the first time that digestive manifestations, including constipation, occur frequently in children followed for iPPSD, suggesting a potential role of Gsα and G protein receptors in the digestive tract. It is well known that constipation and digestive symptoms alter quality of lif...

08/21/2024

Interested in a remote research study opportunity to evaluate sugar levels and activity?

The Remote Monitoring of Hyperglycemia and Activity in Individuals with Pseudohypoparathyroidism (PHP) Study is recruiting participants (males and females, children and adults aged 4 years or greater) with and without Pseudohypoparathyroidism type 1A (PHP). Individuals with PHP, who do not have diabetes, will be asked to wear a continuous glucose monitor (CGM) and an activity monitoring watch, which can be placed at home.

To learn more and whether you may be eligible, please visit: https://redcap.link/remote_hyperglycemia_screening_a

A member of our research team will contact you in the near future if you are a match. Thank you for your time and interest in research!

08/13/2024

What are the dangers of a too low PTH level? It is possible to raise calcium levels too high, leading to excess calcium in the kidneys (nephrocalcinosis).

08/06/2024

What are the dangers of a too high PTH level? Short term, we worry about low calcium levels. Long term, it is possible to develop parathyroid gland adenomas (overgrown glands).

07/30/2024

In patients with PHP, one treatment goal is to keep the PTH level

04/05/2024

This growth chart shows classic growth hormone deficiency in a child with PHP1A. The arrow shows when growth hormone was started.

03/30/2024

To our knowledge, autoimmune diseases are NOT more common in any form of PHP. The hypothyroidism seen in PHP is from TSH resistance.