We present the case of a 31 year old female referred with weight gain, secondary amenorrhea, facial plethora and buffalo hump x6-9/12. Background medical history of caesarean section. She was on no regular medications. She rarely consumed alcohol. There was no relevant family history.
She experienced secondary amenorrhea x6/12. Her menarche was at the age of 14 and had regular periods thereafter. She had gained 13kg over the previous 9/12. Examination revealed an intrascapular fat pad, abdominal striae and facial plethora. Her BP was 150/87.
Initial investigations were as follows: Overnight DST: Cortisol 642 nmol/L, DHEAS <0.4 µmol/L, hCG <1 U/L, TSH 0.71 mIU/L, FT4 15.1 pmol/L, Prolactin 380 mIU/L, IGF-I 152 µg/L, FSH 4.4 IU/L, LH 3.0 IU/L, oestradiol <100 pmol/L, 17-OH Progesterone <1.0 nmol/L. She then underwent a low dose 48 hour dexamethasone suppression test the results showed: Cortisol Day 1(time 0) 704 nmol/L, Day 2 (time 24 hours) 702nmol/L, Day 3 (time 48 hours) 703 nmol/L and paired ACTH 1.4ng/L.
She was admitted from clinic with BP 189/107 and was started on metyrapone and ramipril. On this admission her bloods showed calcium 2.70 mmol/L, iPTH 113.5 ng/L, 25 (OH) D27nmol/L. Ct abdomen and pelvis revealed a 3.3x2.2 cm right adrenal lesion with hounsfeld units <10 and unremarkable left adrenal. ARR, plasma metanephrines and HbA1c were all normal. The case was discussed at MDM and referred for retroperitoneal laprascopic right adrenalectomy. She was discharged day 2 post op off anti hypertensives and on hydrocortisone 10mg/5mg/5mg. Histology confirmed adrenocortical adenoma and Ki67 <5%.
When vitamin D replete, we re-evaluated her hypercalcemia. This revealed 2.77 mmol/L, iPTH 100.7ng/L, calcium: creatinine ratio 0.72 mmol/mol. She had an ultrasound neck and sestamibi which both lateralised to right lower lobe of thyroid. A synacthen test was repeated which revealed time 0 cortisol 183 nmol/L and ACTH 44 ng/L, time 30 cortisol 258 nmol/L and time 60 cortisol 302 nmol/L. She was referred for 4 gland exploration with intra operative PTH. Her baseline intra operative PTH was 193 ng/L and her 10 minute post excision value was 55 ng/L which demonstrates a 65% drop in concentration and intra operative PTH returned to within the reference interval.
The histology was atypical displaying extension of the tumour through the capsule and possible vascular extension. Ki 67 was <2%. It has been sent to St. Guy’s and Thomas’ for a second opinion. Her calcium and iPTH returned to normal post operatively. MEN1 and CDKN1B genes were negative. We’re awaiting gene sequencing on the following - RET, CDC73, CASR, CDKNIA, CDKN2C AND CDKN2B. This case represents a case of multiple endocrinopathies with no found genetic link.