Pseudohypoparathyroidism

Arturas Klugas, MD, FAAFP and Egle Klugiene, DipABLM, MD Reviewed 04/2024

BASICS

Pseudohypoparathyroidism (PHP) is a rare, inherited disorder characterized by target organ resistance or unresponsiveness to parathyroid hormone (PTH) (1).
PHP is characterized by hypocalcemia,...

DIAGNOSIS

HISTORY

Patients develop symptoms secondary to hypocalcemia; however, hypocalcemia in children and adolescents are often asymptomatic.

Paresthesias (fingertips, toes, perioral)
Numbness (espec...

TREATMENT

Treatment approach should be multidisciplinary and lifelong (3)[C].

MEDICATION

Goals: Maintain normal calcium and phosphorus levels. PTH should be maintained in the mid-normal to 2 times t...

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

Monitoring and follow up for associated conditions as follows (1):

PTH resistance
- PTH, Ca (targeting a normal range of serum and ionized Ca), phosphorus, alkaline...

REFERENCES

Mantovani G, Bastepe M, Monk D, et al. Recommendations for diagnosis and treatment of pseudohypoparathyroidism and related disorders: an updated practical tool for physicians and patients....

CODES

ICD10

E20.1 Pseudohypoparathyroidism

SNOMED

58976002 Pseudohypoparathyroidism (disorder)
58833000 Pseudohypoparathyroidism type I A
56090007 Pseudohypoparathyroidism type I B

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 hype...

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