Living with Pseudohypoparathyroidism type I A
A genetic condition in which the body can't respond to parathyroid hormone and other hormones, with low calcium.
Understanding Pseudohypoparathyroidism type I A
It leads to low calcium and high phosphate in the blood, with symptoms usually first seen in childhood. People may also not respond to other hormones, such as thyroid-stimulating hormone. It is linked with Albright's hereditary osteodystrophy, which includes short stature, a round face, obesity, and short hand bones. It is diagnosed from symptoms, exam, and lab tests, and can be confirmed by genetic testing.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low calcium and high phosphate in the blood
- Cataracts (clouding of the eye lens)
- Numbness, seizures, or hand and foot spasms
- Short stature and round face
- Obesity
- Short fingers, toes, and foot bones
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 bone and joint specialists, brain and nervous system specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in GNAS are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
HypoPARAthyroidism Association, Inc. may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- 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
This condition is caused by changes in the GNAS gene. It is autosomal dominant, meaning one changed copy of the gene is enough.
Also known as: aho-php syndrome ia; albright hereditary osteodystrophy; albright hereditary osteodystrophy with multiple hormone resistance; albright hereditary osteodystrophy-php syndrome ia; albright hereditary osteodystrophy, classical type; albright's hereditary osteodystrophy
Patient organizations
- HypoPARAthyroidism Association, Inc.Pseudohypoparathyroidism type I A · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Pseudohypoparathyroidism type I A.
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