Living with Pseudohypoparathyroidism type II
A form of pseudohypoparathyroidism in which the body resists parathyroid hormone, causing low calcium.
Understanding Pseudohypoparathyroidism type II
It causes low calcium, high phosphate, and high PTH levels. Unlike other types, there are no Albright's hereditary osteodystrophy features, and Gs protein and urine cAMP response are normal. It can start at any time in life.
Signs & symptoms
Symptoms vary from person to person. GARD lists pseudohypoparathyroidism itself among the most common features, and these less common ones:
- Low calcium with high phosphate
- Muscle spasms
- Pins and needles feeling
- Spasms of the voice box (laryngeal dystonia)
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 says gene changes cause this condition. It doesn't name a gene or describe inheritance yet.
Also known as: php ii; php2; pseudohypoparathyroidism type 2
Patient organizations
- HypoPARAthyroidism Association, Inc.Pseudohypoparathyroidism type II · 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 type II.
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