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Pseudohypoparathyroidism

Joel Saeedi, MD, Fatima M. Kazi, MD and Joumana Chaiban, MD, FACE Reviewed 06/2019
 


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 develop mainly symptoms secondary to hypocalcemia:

    • Paresthesias

    • Numbness

    • Muscular cramping

    • Tetany

    • Carpopedal spasm

    • Seizures

  • However, hypocalcemia in children and adolescents is of...

TREATMENT

MEDICATION

Goals: Maintain Ca and phosphorus within reference range. Lower serum PTH as permitted while avoiding PTH suppression, which is associated with hypercalciuria and renal calcificati...

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

    • Urine st...

REFERENCES

1
Lania A, Mantovani G, Spada A. G protein mutations in endocrine diseases. Eur J Endocrinol.  2001;145(5):543–559. [View Abstract on OvidMedline]
2
Michels TC, Kelly KM. Parathyroid diso...

ADDITIONAL READING

  • Mantovani G. Clinical review: pseudohypoparathyroidism: diagnosis and treatment. J Clin Endocrinol Metab.  2011;96(10):3020–3030. [View Abstract on OvidMedline]

  • Moe SM. Disorder...

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 similar to hypoparathyroidism, but the signs are due to resistance to PTH rather than from the lack of PTH; hence, the term “pseudo.”

  • PHP is characterized by hypocalcemia and hyp...

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