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Primary amenorrhoea with hypertension: undiagnosed 17-α-hydroxylase deficiency

Clinical record

A 22-year-old Taiwanese woman on a working holiday in Australia was admitted to hospital in March 2011 with a cervical spine fracture from a motor vehicle accident. During her hospital stay it was noted that she had metabolic alkalosis with significant hypokalaemia.

Her past medical history included presentation at 16 years of age with primary amenorrhoea that was attributed to pubertal delay. At that time, she was given oestrogen–progesterone replacement therapy, which induced withdrawal bleeding. She noted an increase in stature after commencing hormone replacement therapy, growing to the height of her two brothers. She was diagnosed with mild hypertension at a pre-immigration health check in Taiwan. After arriving in Australia, 12 months before the accident, she had stopped taking hormonal therapy and experienced complete cessation of withdrawal bleeds. She was ethnically Han Chinese with no family history of consanguinity.

Physical examination revealed she was tall and thin, with height 174 cm and body mass index 19.6 kg/m2. Her blood pressure was elevated, with a maximal reading of 190/120 mmHg. In addition to bruising consistent with…