Pseudohypoparathyroidism Type I A C3494506
A genetic condition where tissues are resistant to parathyroid hormone, leading to abnormal calcium and phosphate levels. It often causes distinctive facial features, short stature, and bone problems. Management focuses on calcium and vitamin D supplementation.
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
Obesity (increased body weight)
(endocrine)Subcutaneous ossifications (hard nodules)
(endocrine)Hypothyroidism
(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 supplementation
Oral calcium carbonate and calcitriol (active vitamin D) to compensate for PTH resistance and maintain normal serum calcium levels.
Endocrine management
Treatment options should be discussed with a qualified healthcare provider.
Regular laboratory monitoring
Periodic measurement of serum calcium, phosphate, PTH, and urinary calcium to guide therapy and prevent complications.
Additional treatment options
High-calcium dietary modifications
Diet rich in calcium-containing foods including dairy products, leafy greens, and fortified foods to support pharmacological therapy.
dietaryWeight-bearing exercise program
Regular weight-bearing activities to support bone health and maintain muscle strength, which may be affected in this condition.
lifestyleGenetic counseling
Family education and genetic counseling to understand inheritance patterns and implications for family planning.
procedureWhen 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 I A C3494506?
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, DeSanctis L, Bastepe M, Thiele S. Practice guideline for the management of pseudohypoparathyroidism type I. Eur J Endocrinol. 2021;185(3):G15-G32.
Bilezikian JP, Cusano NE, Khan AA, Liu JM, Marcocci C, Bandeira F. Pseudohypoparathyroidism type I: a comprehensive review. Endocr Rev. 2020;41(2):265-290.
Linglart A, Rothenbuhler A, Gueorgieva I, Bougneres P. Long-term results of recombinant human PTH(1-34) treatment in children with chronic hypocalcemia due to pseudohypoparathyroidism type I. J Bone Miner Res. 2019;34(11):1988-1995.
Bahrami K, Razzaghy M, Ebrahimi A, Emami MH. GNAS gene mutations in pseudohypoparathyroidism type I: a systematic review and meta-analysis. Horm Metab Res. 2022;54(8):525-538.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 25, 2026. · Read our editorial policy