Hypercalcaemia from genitourinary tuberculosis in a female with multiple exostoses

Area of Science:

• Endocrinology
• Nephrology
• Infectious Diseases

Background:

• Presents a complex case of a 30-year-old female with multiple health issues including nephrolithiasis, hypercalcemia, amenorrhea, short stature, and skeletal deformities.
• Differential diagnoses considered included multiple pituitary hormone deficiency and metabolic bone disease, which were ultimately ruled out.

Observation:

• The patient exhibited symptoms of hypercalcemia, nephrolithiasis, and amenorrhea, initially suspected to be endocrine or metabolic in origin.
• Simultaneously, she presented with gross skeletal deformities and short stature, suggestive of a congenital condition.

Findings:

• The definitive diagnosis was genitourinary tuberculosis (TB), identified as the causative agent for hypercalcemia, nephrolithiasis, and amenorrhea.
• The patient was also diagnosed with a syndrome of multiple exostoses, explaining her skeletal deformities and short stature.

Implications:

• Treatment with anti-tuberculosis therapy led to the resolution of hypercalcemia and the return of regular menstruation.
• While the infectious and endocrine-related symptoms were successfully managed, the congenital short stature and skeletal deformities remain permanent conditions.