20th February 2024

A 20-year-old man presents to the endocrinology clinic with recurrent tingling in his fingers

A 20-year-old man presents to the endocrinology clinic with recurrent tingling in his fingers and spasms in his toes. He was noted to have low calcium and PTH levels by his GP. His mother noted that he had a transient episode of low calcium as a neonate that spontaneously resolved after two months of age and a cleft palate repair when he was six. On examination, he had prominent, low-set ears with an enlarged nose tip along with up-slanting palpebral fissures. The cardiac examination was normal.

Given the likely unifying diagnosis, what is the most suitable test to diagnose this condition?

Select the SINGLE most appropriate option from the list below. Select ONE option only.