Endocrine Abstracts

Background: Turner syndrome (TS) is the most common chromosome deficiency in women, with an incidence of 1 in 2 000 female newborns. Acromegaly is a rare disease, which occurs with a frequency of 1:140 000–250 000 of the population. To our knowledge only several cases of TS and acromegaly coexistance have been reported up to date.

Case presentation: A 43-year-old woman with TS was referred to our Department with an accidentally discovered pituitary macroadenoma (3.5×3.4×2.6 cm ). The patient presented a typical picture of acromegaly and has been chronically taking hormone replacement therapy due to hypogonadism in the course of TS. In our Department hormonal tests revealed hyperprolactinemia (PRL=46.8ng/ml) and active acromegaly (IGF-1=962 ng/ml; GH= 74.4 µg/l). In the dermatological and pathomorphological consultations multiple skin neurofibromas were described. A well-defined unenhanced lesion 70x58x77 mm in size, with thick wall, fluid level and a heterogeneous content was described in the abdominal MRI. The endoscopic ultrasound-guided fine needle aspiration did not succeed. Somatostatin receptor scintigraphy revealed an abnormal radiolabel uptake of the pituitary tumor and did not show any other lesions with pathological radiotracer accumulation. While awaiting for pituitary surgery the patient was administered lanreotide autogel 120 mg every 4 weeks s.c. for acromegaly, bromocriptine 2,5 mg/day due to the coexistance of hyperprolactinemia. After 5 months of preoperative medical treatment transsphenoidal pituitary adenoma resection was performed. A pathological report revealed a mixed somatotroph and lactotroph PitNET with GH, α-subunit and PRL positive immunostaining and Ki-67 labeling index 1%. Due to the persistent active acromegaly (IGF-1=442 ng/ml; GH= 3 µg/l) after the operation the treatment with lanreotide autogel was restarted which resulted in complete biochemical acromegaly control after 6 months. After surgical, gastroenterological consultations, the patient was qualified for pancreatic tumor resection and the pathology report revealed solid pseudopappilary neoplasm of the pancreas (SPNP): Vim (+++), cyclin D1 (+), PGR (++/+++), CD10 (+++).

Conclusions: To date, the coexistence of TS and acromegaly is considered a rare coincidence. Despite the presence of multiple skin neurofibromas in our patient, the diagnosis of neurofibromatosis type 1 was excluded. SPNP which is a very rare tumor of the pancreas is usually described in females under the age of 30 years, however the effect of estrogens and progesterone on SPNP remains still uncertain. In order to expand the knowledge it is necessary to collect similar cases to assess the effect of GH excess in TS.