The Multiple Endocrine Neoplasia predominantly affect the pituitary gland, parathyroids, thyroids, adrenal glands and pancreas. We present the case of a patient with three different functioning endocrine gland tumours, but who cannot be included in any of these groups.
Case report: Sixty-five-years-old female with recurrent episodes of nephritic colic and hypertension for 2 years; non-specific gastrointestinal complaints, hirsutism, hypertrichosis on the limbs, frontoparietal alopecia and increased libido.
Examination: BMI: 32 kg/m2, androgenetic alopecia, facial hirsutism, hypertrichosis on the limbs, increased pilification midline; increased size of thyroid gland with nodule on midline, 2 cm in diameter and of an elastic consistency that moves on swallowing. Vitiligo on hands.
Complementary: Calcium 10.6 mg/dl, phosphorus: 2.21 mg/dl. Calciuria: 394 mg/24 h; RTP: 74.8%, PTH: 95.6 pg/ml. FSH: 15.7 IU/l, LH: 7.42 IU/l, testosterone: 2.54 ng/ml, FAI: 19.63. SESTAMIBI gammagraphy: pathological deposit in upper right parathyroid projection area. Thyroid ultrasound: 2.4×2×1.5 cm diameter nodule on isthmus. Transvaginal ultrasound and abdominal CT: normal.
Total thyroidectomy and a parathyroidectomy for parathyroid adenoma were therefore performed, because a suspected malignant thyroid nodule was found, which was diagnosed as papillary thyroid carcinoma.
Post-surgical examination, clinical manifestations of hyperandrogenism persisted with testosterone of 3.52 ng/dl, FSH: 21.9 IU/l, LH: 11.7 IU/l; It was decided bilateral oopherectomy: the anatomopathological diagnosis was a steroid cell tumour in the right ovary (NOS), and the left ovary: hyperthecosis and cystic follicles.
Following the oopherectomy the patient clearly improving in terms of hirsutism and presenting a regrowth of hair. Testosterone: 0.12 ng/ml, FSH: 33.35 IU/l, LH: 11.36 IU/l.
Conclusion: This patient presented with: primary hyperparathyroidism, papillary thyroid carcinoma and functioning ovarian tumour. Although she cannot be included within any of the MEN groups that have been defined to date, this is an atypical clinical profile of multiple endocrine neoplasia.
03 - 07 May 2008
European Society of Endocrinology