ESPE Abstracts

Background: Pseudohypoparathyroidism (PHP) is a condition primarily caused by impaired hormonal signaling through the stimulatory G protein (G2 alpha) for the activation of adenyl cyclase, which is coupled to G protein receptors(1). This occurs due to the molecular defects in the receptors related to the alpha subunit. (1–3). The condition results in resistance to Parathyroid hormone (PTH) and other hormones. Less than 60 cases have been reported worldwide up to December 2016(1) as the condition is rare. Pseudohypoparathyroidism is a spectrum characterized by abnormal physical characteristics, neurocognitive impairment, and multiple endocrine abnormalities. Young children may remain asymptomatic, and disease may manifest in mid or late childhood along with the growth(1). Several subtypes of pseudohypoparathyroidism are being described in the literature. We describe 8 patients diagnosed with PHP and followed up in the endocrinology clinic at Lady Ridgeway Hospital for Children Sri Lanka.

Case presentation: Patient 1 presented with hypertension and short stature. Patients 2-5 presented with hypocalcemia. Inpatient 2 hypocalcemia was incidentally detected on routine investigations. Patient 3 presented with carpopedal spasms and patients 4 and 5 presented with hypocalcemia seizures. Patients 6-8 were evaluated for short stature. At presentation 3 of them were diagnosed with hypothyroidism during the neonatal period or early infancy. The age of diagnosis ranges from 7 months to 10 years. All the patients were diagnosed on the basis of the clinical criteria as genetic testing is not available in the country.

Conclusion: Pseudohypoparathyroidism is an important diagnosis that needs high clinical suspicion as the clinical symptoms evolve with time and have a wide spectrum in presentation. The diagnosis can be made clinically. Genetic testing is important in subclassification and counseling. These patients should be referred to a Paediatric endocrinologist for further evaluation and management.