Summary

The authors present a puzzling case of nephrolithiasis, hypercalcaemia, amenorrhoea, short stature and gross skeletal deformities in a 30-year-old female. Multiple pituitary hormone deficiency and metabolic bone disease were initially considered but were eventually excluded. The final diagnosis is genitourinary tuberculosis (TB) which caused the hypercalcaemia, nephrolithiasis and amenorrhoea, and also found to have the syndrome of multiple exostoses which explained the gross skeletal deformities and the short stature. After treatment with anti-TB therapy, there was resolution of hypercalcaemia and return of regular menstruation. The short stature and gross skeletal deformities remain as part of the congenital syndrome.