The proband (II.2, Fig. 1.1) presented aged 32 years with PHPT (corrected calcium 2.92 mmol/L, normal range 2.16-2.45 mmol/L; PTH 12.4 pmol/L, normal range 0.8-8.0 pmol/L) and a left superior parathyroid adenoma was resected via minimally invasive surgery. The gene discussed is PTH; the disease is parathyroid gland adenoma.