ACTA ENDOCRINOLOGICA (BUC)

Context. Aromatase is a key enzyme in local estrogen production by androgen conversion, especially in women post-menopause. There have been controversies concerning aromatase localization in breast carcinomas and its association with current histopathological variables. Material and Methods. Using polyclonal antibody immunohistochemistry we assessed (by intensity and percentage scores) the immunolocalization of aromatase in 70 tissue samples, and described particularities within the molecular subtypes of breast cancer. Results. Aromatase was found in all tissue compartments: tumor (95.7%), stroma (58.6%) and adipose tissue (94.3%). Aromatase expression in tumor cells correlated inversely with tumor grading (p=-0.361, p=0.027), and positively with estrogen receptor status (ER, p=0.143, p<0.001). Dividing the study group by intrinsic subtypes, a strongly inversely association between tumor aromatase and grading (p=-0.486, p<0.001), and between stromal aromatase and Ki67-index (p=-0.448, p=0.048) was observed in luminal A breast cancer. Tumor aromatase and ER percentage scores had stronger correlations in luminal B HER2 negative (p=0.632, p=0.002), and positive (p=0.324, p=0.026) tumors. In contrast, in triple negative tumors, a positive association stromal aromatase and Ki67 index (p=- 0.359, p=0.007) was observed. Conclusion. Local aromatase was linked to better tumor differentiation and proliferation in luminal breast subtypes, and not in triple negative cases, suggesting a potential prognostic role of aromatase in breast carcinomas.

Abstract Introduction. Turner syndrome, a genetic disorder with an exclusively feminine phenotype, is caused by complete or partial X monosomy in some or all cells. Although the condition is usually diagnosed after birth, now, it is possible to detect the syndrome prenatally. Case reports. We present two cases of Turner syndrome diagnosed during the first trimester of pregnancy. The condition was suspected because of several ultrasound signs and was confirmed in both cases after an invasive prenatal technique. In one case, the fluorescent in situ hybridization technique was applied. In the other case, the chromosomal anomaly was detected using the G banding technique. Threedimensional ultrasound and HDlive technology were extremely useful in helping the patients to better understand the fetal pathology and accept an invasive procedure as a final step in establishing the diagnosis. Conclusion. These cases demonstrate the importance of using ultrasound as a screening method to detect suspected cases of Turner syndrome, however, the disorder needs to be confirmed with chromosomal analysis after performing an invasive prenatal technique.

Objective. The association of type 1 diabetes mellitus with autoimmune thyroiditis or with celiac disease is frequently mentioned in literature, but the concomitant presence of these three autoimmune diseases, especially in adults, represents a rarity. Case report. We present the case of a young man with severe generalized oedema admitted to the emergency department and diagnosed with severe hypothyroidism (TSH=100 μUI/mL, fT4 = 0.835 pmol/L) in the context of a long-lasting autoimmune thyroiditis (anti-TPO antibodies 64 UI/mL, anti-TG antibodies 17 UI/mL, the thyroid ultrasonography). At the same time, he was diagnosed with type 1 diabetes mellitus. He was also submitted to further tests which confirmed the diagnosis of celiac disease (endoscopy with intestinal mucosa biopsy, confirmed by immunological tests). The association of these three diseases slows down the process of reaching a final diagnosis and delays the adoption of a therapeutic strategy. Conclusion. This case underlines the difficulty of differential diagnosis of severe oedema syndrome with polyserositis in a patient with polyglandular autoimmune syndrome. Whenever there is a suspicion of the association of these autoimmune diseases, the evolution of the patient is unpredictable and most medical results are highly dependent upon the decision of applying a concomitant treatment.

There are no new national growth references for the Romanian population and the current recommendations for short stature evaluation is the use of the Swiss growth charts developed based on a longitudinal study. The aim of the present paper is to present the new synthetic growth references for Romanian children. Material and methods. We used local Romanian data from 9 studies with information on height and weight obtained between 1999 and 2016. Based on their plausibility and methodology six studies were selected for generating the National Synthetic Growth References for Romanian Children based on the specific methodology described previously. The selected studies included 8407 subjects measured in schools/kindergartens. Age is reported in years covering a range from 3-18 years. Height and weight were measured at a precision of 0.1 cm and 0.1 kg. All children were measured at normal temperature, in light clothes, without footwear. Results. We present the charts and tables with the common centiles for height, weight and body mass index for boys and girls. Conclusion. We suggest synthetic growth references based upon recent growth data from 6 different Romanian regions as new National Growth Charts for Romanian children.

Despite an adequate medical treatment of Graves ophthalmopathy (GO), sometimes surgery is required to establish accurate eye movement and avoid severe complications. We present such a woman with Basedow's disease and evolutive exophthalmia despite adequate medical approach. At the admission (2005) she had clinical signs of thyrotoxicosis, TSH = 0.1 mUI/L, FT4 = 4.2 ng/dl and antithyroperoxidase antibodies = 342 UI/ml. Proptosis was 26 mm at the right eye and 25 mm at the left one, with intraocular tension 20 mmHg and NO SPECS score 4. Treatment with methimazole (30 mg/day), propranolol (30 mg/day), and corticotherapy (Metilprednisolone, 3x1g/day iv), improved the hyperthyroidism but not the ocular signs. The euthyroidism was maintained with 5 mg Methimazole daily. In February 2006 a new pulse therapy with Metilprednisolone (1g/day iv 3 days) was started, followed by Prednisone 30 mg /day, without significant improvement of the ocular signs. In June 2006, TSH receptor antibodies were high, TRAb=16.3 U/l, with euthyroid status but evolutive proptosis. The MRI showed an increase of the volume of all intraorbital muscles, a decrease of the optic nerve diameter. The patient had progressive GO with photophobia, palpebral edema, hyperlacrimation and conjunctivitis. The surgical treatment was decided when the proptosis was 25 mm and the intraocular tension was 19 mm Hg for both eyes. The patient was submitted to orbital content decompression through lipectomy and osteotomy of the orbital floor. The postoperative follow-up was uneventful. Two years postsurgery, exophthalmometry was 17 mm at right eye and 18 at the left eye, with an intraocular tension of 13 mm Hg. The MRI showed normal intraorbital muscles and ocular globe; the bicanthal lines were anterior to the posterior pole of the ocular globe. The patient had no limitation of the eyes movements, photophobia or conjunctivitis and a significant esthetic improvement.

Background. Indication, type of surgery and choice of surgical approach for adrenal masses continues to be a subject of debate between surgeons. The aim of this study was to report our data and experience with adrenal surgery. Subjects and Methods. We performed a retrospective study on 297 patients diagnosed with adrenal masses and operated in our center between 2002 and 2011. Gender, age, surgical approach, operating time, hospital stay, histology report and complications were analyzed. Results. From a total of 297 patients who underwent adrenalectomies, 82 were performed by laparoscopic approach and 215 in a classical open approach. The most common indication for surgery was pheochromocytoma (50.2% in unilateral and 50% in bilateral adrenal masses) summing 149 patients for both types of surgery. The risk of malignancy was significantly correlated with tumor size and the cut off value of 5cm had 92.5% specificity and 74.6% sensitivity. Patients in laparoscopic group were younger (mean 44.13 years), had shorter operating times (mean 122.7 min), shorter hospital stays (mean 6.8 days), and less complications (1.7 %) compared to open adrenalectomy. Conversion rate to open procedure was 2.4 %. Conclusion. Although many adrenal masses are now excised by laparoscopic techniques, the number of procedures was still low in our center because of high surgical complexity of our cases and high institutional costs. Moreover, we should consider that the best adrenal surgery approach remains open surgical excision for larger masses and malignant conditions.

Purpose. To correlate the volume of parathyroid adenomas with the hormonal and metabolic profile at patients diagnosed with primary hyperparathyroidism (pHPTH). Patients and Methods. Cross-sectional multicentric study, enrolling 52 patients with pHPTH from two medical institutions. Serum calcium and PTH were evaluated in all patients before surgery, whereas 25OHD3 was measured only in the 33 patients recruited form one medical unit. The volume of parathyroid adenoma was measured by using the formula of a rotating ellipsoid. Results. We observed a significant correlation of the volume of parathyroid adenomas with PTH at patients from the two units and in the whole group (p < 0.0001), but not with serum calcium (p = 0.494). Twenty-five out of the 33 patients at whom 25OHD3 was measured had levels in the range of deficiency. 25OHD3 was not correlated with PTH or calcium levels, but was negatively correlated to the adenoma volume and positively to the PTH/volume ratio (p = 0.041 and p = 0.048, respectively). Conclusions. The volume of parathyroid adenoma seems to be related to preoperative PTH and 25OHD3, but not to calcium level. Vitamin D deficiency is frequently found at patients with pHPTH and may contribute to particular disease profiles, including larger parathyroid adenomas.

Purpose. We checked the advantage of intraoperative quick PTH (iqPTH) for improving cure rate of patients operated for primary hyperparathyroidism (PHPTH) by using minimally invasive surgery. Methods. We compared two groups of patients diagnosed with PHPTH by preoperatory localized single parathyroid adenoma (PA) submitted to minimal invasive surgery with histological confirmation. Patients from a control group (C) were operated without measuring intraoperative PTH, whereas in the second group iqPTH was assessed after adenoma excision and before wound suture. When quick PTH dropped less than 50%, conversion to open surgery and bilateral exploration followed. Results. Six of the 40 patients from the C group (15%) had persistently elevated postoperative PTH, needing reintervention. High intraoperative PTH levels persisted in two of the 13 patients from the iqPTH group (15.4%), but conversion to open surgery allowed localizing and excision of preoperatory undetected supplementary PA, increasing success rate to 100% (p < 0.05). Conclusions. Assessment of iqPTH in PHPTH before wound suture provides reliable confirmation of accurate adenoma removal. Persistence of high PTH levels after adenoma removal suggests multiple gland disease and requires conversion to bilateral neck exploration in order to increase cure rate.

Context. Metabolic surgery is currently the most efficient treatment for obesity, but concern is raised about the possible long-term nutritional side effects. Bone metabolism is often adversely affected after surgery, but literature data are contradictory. Objective. The aim of this study was to evaluate the evolution of bone mass parameters in the first year after laparoscopic sleeve gastrectomy in relation to anthropometric and body composition parameters and specific hormones of obesity. Design. We conducted a prospective study on 75 patients with obesity that underwent metabolic surgery over a course of 18 months at our center, with a follow-up period of 12 months. Subjects and Methods. All patients underwent a complex preoperative assessment and were required to return for medical follow-up at 6 and 12 months after surgery. Each visit included anthropometric parameters, DEXA and determination of specific hormonal parameters. Results. We noticed a significant improvement in anthropometric and body composition parameters after surgery. The value of adiponectin presented a significant increase after surgery and leptin showed a significant decrease at 6 and 12 months postoperative; ghrelin level decreased postoperative compared to preoperative, but without statistical significance. We observed no reduction in BMD after surgery, but a significant improvement in BMC at 12 months after surgery compared to preoperative. Ghrelin negatively correlated to BMD preoperative. Conclusions. Despite the significant alterations in anthropometric, body composition and hormonal parameters, we found no negative effect on BMD and BMC in our study population.

Background. Paraganglioma develop from embryological neural crest cells from the base of the skull, mediastinum, retroperitoneum, urinary bladder and scrotum. The most common location of the retroperitoneal form is situated between the aorta and vena cava, at the level of left renal vein, or more distally, to the aortic bifurcation. The care of patients with paraganglioma is a challenge for many physicians and surgeons because of its clinical features and therapeutic implications. Case presentation. We report the case of a 22-years old female patient with symptomatic retroperitoneal paraganglioma who was successfully treated with complete surgical excision. The pathological report confirmed the presence of chromaffin tumours. Postoperative care was uneventful, the patient being discharged after 10 days. Follow-up evaluation showed no recurrence after 4 years. Conclusion. Although a very rare condition, retroperitoneal paraganglioma has to be considered in the differential diagnosis of retroperitoneal tumours. Complete surgical resection is crucial for treatment and histological assessment as these tumours are potentially curable if they are diagnosed correctly. In our experience, the best surgical approach is open surgical excision for large masses located in the interaortocaval region, with a clear operatory field and good control over the major blood vessels. Follow-up is strongly recommended.