Pseudohypoparathyroidism

Case contributed by Abbas Iqbal
Diagnosis certain

Presentation

Mild spasm in her hands for 1 week, and lethargy for 1 month. No other hypocalcemic features were documented based on history.

Patient Data

Age: 25 years
Gender: Female
x-ray

Both 4th metacarpals show decreased height showing a positive metacarpal sign with reduced 4th digit length. No cortical break is seen. No lytic/sclerotic lesion is noted.

Case Discussion

This patient presented with mild hypocalcemic symptoms, lethargy and mild spasm in both hands. On general physical examination, short hands and a round face were found. An X-ray was done that showed a positive metacarpal sign. The following differentials were considered:

Turner syndrome was excluded on the basis of clinical findings and ultrasound abdomen/pelvis. 

Laboratory investigations confirmed pseudohypoparathyroidism

  • PTH level: 239 pg/ml (normal range-15-65)
  • calcium levels: 7.6 mg/dl (normal: 8.5-10.5)

The patient was started on lifelong calcium and vitamin D supplements. On follow-up visits, the patient significantly improved there were no signs of hypocalcemia.

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