Searchable abstracts of presentations at key conferences in endocrinology
Endocrine Abstracts (2008) 15 P41

1BHF Glasgow Cardiovascular Research Centre, Glasgow, UK; 2Queen Mother’s Maternity Hospital, Glasgow, UK; 3Southern General Hospital, Glasgow, UK.


Phaeochromocytoma is an extremely rare cause of gestational hypertension. Failure to diagnose the condition can be catastrophic to both mother and foetus, therefore an early diagnosis and close co-operation between physicians, obstetricians and anaesthetists is essential.

We present the case of a 24 year old woman, who was referred to her local maternity hospital at 34 weeks gestation as she was small for dates. Clinical examination was unremarkable, and ultrasound scanning revealed that the baby’s growth was normal. She was found, however, to have labile blood pressure and deranged liver function tests. Ultrasound and subsequent MRI imaging revealed a 6.9 cm right adrenal mass. She gave a 3 year history of intermittent panic attacks for which she had been referred to a psychologist, but no other symptoms. Urine noradrenaline was 7446 nmol/24 h, (reference <900) urine free normetadrenaline was 13 150 nmol/24 h, (reference <650) and urine VMA was 97 μmol/24 h (reference <35.) She was treated with oral then intravenous phenoxybenzamine, and proceeded to Caesarean section, followed immediately by laparoscopic adrenalectomy. Her surgery was uneventful, both mother and baby remained well and were discharged 5 days post-operatively. Four days later, the patient re-presented to hospital complaining of headache, vertigo and an episode of collapse. MRI imaging of head revealed a 2×2 cm cystic mass in the left cerebellum. She underwent craniotomy and excision of the lesion, and pathology was consistent with haemangioblastoma.

She remains well post-operatively. Genetic analysis has revealed a mutation in exon 3 of the VHL (Von-Hippel–Lindau) gene. There is no relevant family history, and her family have been referred for genetic screening. Imaging of her spinal cord, and ophthalmological examination are normal.

This case highlights many of the challenges in the diagnosis and management of phaeochromocytoma in pregnancy, and demonstrates a number of the clinical and genetic characteristics of VHL.

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