Congenital Pseudohypoparathyroidism – A Late Diagnosis

The purpose of this paper is to present a case of congenital pseudohypoparathyroidism, late diagnosed in a 22-year-old patient.

The patient’s history revealed hypocalcaemia, diagnosed at birth and persistent despite the treatment with calcium. At 8 years old, the patient is diagnosed with epilepsy and receives treatment with Levetiracetam and Oxcarbazepine; at 12 years old she is diagnosed with dilatative cardiomyopathy and receives treatment with Spironolactone and Glycosides. At 22 years old, she visits our Internal Medicine Department with the suspicion of polymyositis and psoriasis. Clinical examination shows armonic short stature, fourth finger hypoplasia, laboratory findings show severe hypocalcaemia, the hand X-ray - third and fourth metacarpal hypoplasia, immunological tests were negative. All data leads to the diagnosis of congenital disease, and given the history of the patient and the evolution of the clinical manifestations we presume hypoparathyroidism or pseudohypoparathyroidism, therefore PTH is dosed – with normal values, and the diagnosis of congenital pseudohypoparathyroidism is established. The patient was referred to endocrinology, where genetic tests were performed to confirm the diagnosis.

In conclusion, in the absence of multiple pathology integration into a single disease, the diagnosis of the genetic disease is delayed. Therefore, it is important to have a comprehensive approach and collaboration between different specialties to establish the correct diagnosis.