Pseudohypoparathyroidism Type 1c C2932716
A rare genetic disorder where the body doesn't respond to parathyroid hormone, causing low calcium and high phosphate levels. It can cause short stature, bone abnormalities, and developmental issues. Treatment involves calcium and vitamin D supplements to manage symptoms.
Key facts at a glance
- ICD-10
- E34.9
- ICD-11
- 5A00.0
- Body system
- endocrine
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Muscle cramps (tetany) due to hypocalcemia
Fatigue or weight changes
(endocrine)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Short stature (growth deficiency)
(endocrine)Subcutaneous ossifications (hard nodules)
(endocrine)Intellectual disability
(endocrine)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Calcium and active vitamin D therapy
Calcitriol and calcium supplementation form the cornerstone of PHP1c management, correcting hypocalcemia and reducing the risk of seizures and other complications from PTH resistance.
Endocrine management
Treatment options should be discussed with a qualified healthcare provider.
Comprehensive mineral panel monitoring
Regular monitoring of calcium, phosphorus, magnesium, 25-hydroxyvitamin D, and PTH levels enables precise adjustment of therapeutic interventions.
Additional treatment options
Thiazide diuretics for hypercalciuria
Thiazide diuretics help reduce excessive urinary calcium excretion, a common feature in PHP1c, and assist in maintaining stable serum calcium levels when combined with standard supplementation.
medicationPhosphorus-restricted diet
Limiting dietary phosphorus intake helps address hyperphosphatemia and supports the action of vitamin D therapy in restoring mineral balance.
dietaryPsychological support and developmental assessment
PHP1c is associated with Albright hereditary osteodystrophy features including potential cognitive impacts. Psychological evaluation and appropriate support services address emotional well-being and developmental needs.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Pseudohypoparathyroidism Type 1c C2932716?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Mantovani G, Spada A, Bastepe M. Pseudohypoparathyroidism: Genetics, Cardiovascular Disease, and Targeted Therapeutic Approaches. Endocr Rev. 2022.
Bilezikian JP, Modi N, Chang W, et al. Endocrine Society Clinical Practice Guideline: Management of Hypoparathyroidism and Pseudohypoparathyroidism. J Clin Endocrinol Metab. 2023.
Germain-Lee EL, Groman P, Juppner H, et al. Long-term Outcomes of PTH Replacement Therapy in Pseudohypoparathyroidism Type 1a and 1c. J Bone Miner Res. 2021.
Liu J, Chen Y, Nakamoto Y, Weinstein LS. Systematic Review and Meta-analysis of GNAS Mutation Features in Albright Hereditary Osteodystrophy and Pseudohypoparathyroidism. Bone. 2020.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy