Living with Pseudohypoparathyroidism
A genetic condition in which the body can't respond to parathyroid hormone, causing low calcium and high phosphate.
Understanding Pseudohypoparathyroidism
Parathyroid hormone helps control calcium, phosphorus, and vitamin D. Symptoms come from low calcium and high phosphate in the blood and are usually first seen in childhood. Diagnosis is based on symptoms, exam, lab tests, and sometimes genetic testing.
Signs & symptoms
Symptoms vary from person to person. GARD describes these features:
- Numbness
- Seizures
- Muscle twitches and hand and foot spasms (tetany)
- Clouding of the eye lens (cataracts)
- Dental problems
- Short stature, short fingers and toes, or weight gain
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists, hormone specialists and kidney specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
HypoPARAthyroidism Association, Inc. may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists); Kidney specialists (nephrologists)
- Expert care
- Expert lists: HypoPARAthyroidism Association, Inc.
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with HypoPARAthyroidism Association, Inc. and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD lists autosomal dominant inheritance, meaning one changed copy of a gene is enough. It doesn't name a gene here.
Also known as: constitutional chronic hypocalcemia; familial pseudohypoparathyroidism; parathyroid hormone resistant hypoparathyroidism; php1a
Patient organizations
- HypoPARAthyroidism Association, Inc.Pseudohypoparathyroidism · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Pseudohypoparathyroidism.
Explore research for Pseudohypoparathyroidism
Explore actively recruiting Pseudohypoparathyroidism studies with HealthSpark.
Find actively recruiting studies for Pseudohypoparathyroidism with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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