Endocrine Abstracts

Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of ACTH independent adrenal Cushing’s syndrome. A 32-year-old female with atrial myxomas was found to have Carney’s complex (PRKAR1A mutation negative). Screening showed biochemical Cushing’s syndrome (24 h urine free cortisol 918 nmol – nr 100–400) and the characteristic paradoxical increase in UFC during the 48 h dexamethasone suppression test was confirmed: 24 h UFC pre-dex 340 and 316, low dose dex 472 and 583, high dose dex 1261 and 1699 nmol. CT adrenals showed bilateral nodularity. She had impaired 75 g glucose tolerance (2 h glucose 10.8 mmol/l), HbA1c 5.5% (nr 4.4–6.4%). Clinically BMI 22 kg/m², normotensive, mild skin thinning over hands and forearms and mild facial plethora. Prior to planning IVF pregnancy bilateral adrenalectomy was recommended, but declined. Untreated Cushing’s in pregnancy is associated with hypertension (68%), diabetes (25%), pre-eclampsia (14%), septicaemia and wound infection (2%) as well as adverse effects on the fetus, although the natural history of pregnancy with PPNAD unknown. The presence of a mechanical mitral valve (following resection of two large atrial myxomas) raised additional concerns. Close monitoring was maintained throughout pregnancy. Late fetal growth deceleration prompted delivery by caesarean section at 36 weeks (live female 2010 g), the only other complications being haematoma and blood loss relating to anticoagulation. Both are well 1 yr later. Glucose tolerance and blood pressure were normal throughout, with no clinical or biochemical features of disease progression. 24 h UFC near term was 457 nmol (normal for pregnancy). We are aware of only one published case of PPNAD in pregnancy which reports that hypercortisolism was exacerbated. In-vitro studies revealed dose-dependent stimulation of cortisol production by oestradiol. The patient reported here emphasises that the pregnancy outcome of patients with PPNAD is not universally poor and hints at phenotypic heterogeneity possibly related to genetic heterogeneity in this rare condition.