Living with Pseudohypoparathyroidism type 1B
A genetic condition in which the kidneys don't respond well to parathyroid hormone, leading to low calcium.
Understanding Pseudohypoparathyroidism type 1B
Resistance mainly occurs in the kidneys, causing low calcium, high phosphate, and high PTH. Severity varies, even in one family. Symptoms usually begin in childhood from low calcium. Some babies and children have extra growth or weight, and some have bone problems.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Numbness, seizures, or muscle spasms (tetany)
- Clouding of the eye lens (cataracts)
- Delayed tooth eruption
- Weak tooth enamel
- Round face and short neck
- Short stature
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
It is often not inherited, but some families pass it on from the mother only. It may involve the GNAS or STX16 gene, inheriting both copies of part of chromosome 20 from the father, or other factors not yet identified.
Also known as: php ib; php1b; pseudohypoparathyroidism ib; pseudohypoparathyroidism ib (php-ib); pseudohypoparathyroidism type i b; pseudohypoparathyroidism type ib
Patient organizations
- HypoPARAthyroidism Association, Inc.Pseudohypoparathyroidism type 1B · 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 1B.
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