A novel homozygous mutation in the parathyroid hormone gene (PTH) in a girl with isolated hypoparathyroidism

► Only 3 mutations in the PTH gene have been reported so far in the literature. ► As measured serum levels of PTH were low but detectable, the measurement of serum intact PTH requires further improvement. ► PTH mutations might be more frequent - we recommend mutational analysis in the diagnostic work-up of “idiopathic” hypoparathyroidism at an early step.