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Pseudohypoparathyroidism

 


BASICS

  • Pseudohypoparathyroidism (PHP) is similar to hypoparathyroidism in its presentation, but, rather than resulting from the body's lack of parathyroid hormone (PTH) production, the signs are due t...

DIAGNOSIS

HISTORY

  • Patients may develop symptoms secondary to hypocalcemia.

    • Paresthesias

    • Numbness

    • Muscular cramping

    • Tetany

    • Carpopedal spasm

    • Seizures

  • However, hypocalcemia in children and adolescents is often a...

TREATMENT

MEDICATION

Goal: Maintain serum total and ionized Ca within the normal range and avoid hypercalciuria. 

First Line

  • Severe symptomatic hypocalcemia should be initially treated with IV Ca, bolus ...

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

  • PTH-resistance

    • Lab studies (every 6 months): PTH, Ca (targeting a normal range of serum and ionized Ca), phosphorus, alkaline phosphatase, calcitonin, Cr (yearly)

    • U...

ADDITIONAL READING

Moe SM. Disorders involving calcium, phosphorus, and magnesium. Prim Care.  2008;35:215–237. 

CODES

ICD10

E20.1 Pseudohypoparathyroidism 

ICD9

275.49 Other disorders of calcium metabolism 

SNOMED

  • 58976002 Pseudohypoparathyroidism (disorder)

  • 58833000 Pseudohypoparathyroidism type I A

  • 56090007 Pseudohy...

CLINICAL PEARLS

  • PHP is characterized by hypocalcemia and hyperphosphatemia with elevated PTH.

  • Diagnosis is confirmed with PTH infusion and failure to see normal PO4 and Ca level responses.

  • Treatment is ...

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