ACTA ENDOCRINOLOGICA (BUC)

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.

We present a 6 months male infant with persistent hyperinsulinemic hypoglycemia of infancy (PHHI)- the former nesidioblastosis. The main presenting symptoms were recurrent episodes of hypoglycemic seizures (persistent hypoglycemic status of 30 mg/dL serum glucose) high requirements of i.v. glucose for maintaining euglycemic status. The main diagnostic markers were: high insulin to glucose ratio,negative urinary ketones, normal growth hormone level, normal cortisol level during hypoglycemia, no visible pathological masses on abdominal and cranial MRI . As a medical treatment we used Octreotid and we needed several adjustments of the dose to maintain euglycemic status, between 4 ?g/kg/day s.c. and 10 ?g/kg/day s.c. Our goal were to prevent the neurological damage and the minimum compromise in the fragile equilibrium of advantages and disadvantages of the treatment in order to maintain the best outcome we could get. Our patient is in his second year of treatment with no severe hypoglycemia during the last 12 months and with good neurological and physical development. The long term outcome is difficult to be predicted.

Introduction. Irisin is a recently discovered novel adipomyokine that induces an increase in total body energy expenditure, improves insulin sensitivity and glucose tolerance. It has been shown that circulating levels of irisin are low in patients with obesity, diabetes mellitus and impaired glucose tolerance. However, the information about the level of circulating irisin in gestational diabetes mellitus (GDM) is controversial. Material and Methods. Serum irisin was measured by an ELISA in a longitudinal prospective cohort study in 221 women. There were 156 healthy pregnant and 65 women with GDM. Results. Circulating irisin levels were significantlly higher in the middle pregnancy compared with early pregnancy levels in healthy pregnant women and in women with GDM. Serum irisin levels were found to be lower in GDM compared to healthy pregnant women during first trimester but the difference was not observed throughout the pregnancy and it was comparable in middle pregnancy. There was a significant inverse correlation of BMI with serum irisin (r = -0.193, p = 0.004) and between HbA1c and mean glucose of OGTT with serum irisin (r =-0.377, p =0.0001) and (r = -0.147, p:0.03) in the early pregnancy of pregnant women repectively. Conclusions. The present study shows that serum irisin level increases throughout the gestational period from early to middle pregnancy in women with GDM, but there is no effect of irisin on the development of GDM.

Objective. We analyzed the possible correlation between glycemic variability and psychological disorders such as depression, anxiety disorder, and low self-esteem, in diabetic patients. These correlations are relevant, as they consume a large number of resources. Their better understanding can increase the effectiveness of incident reduction techniques and could provide better management and cost reduction of care. Methods. We compared the relationships between the glycemic variability (for a period of 10 days prior to completing the depression questionnaire) and the results of two standardized questionnaires: Hamilton anxiety scale - HRSA (group 1: 500 patients), Rosenberg self-esteem test (group 2: 490 patients) and Beck depression inventory (both groups). Results. A statistically significant correlation was identified between the glycemic oscillation and depression as well as both anxiety and low self-esteem. The present data justify further research. Our results could be developed into a preliminary intervention protocol, using the daily glycemic values measurements, collected by patients. In conclusion, psychometric tests could be an important instrument in the management of diabetic patients.

Background. Fine needle aspiration biopsy (FNAB) is an important tool in the diagnosis of thyroid nodules. Aim. Our aim was to investigate the malignancy criteria in thyroid nodules by gray-scale ultrasonography (US) and duplex Doppler ultrasonography (DDUS), and their usefulness in reducing the number of unnecessary FNAB’s. Study design. This was a prospective observational study. Subjects and methods. 181 benign and 18 malignant thyroid nodules were evaluated by US and DDUS before FNAB or thyroidectomy. US was used to note size, shape, internal structure, nodule echogenicity, marginal properties, peripheral hypoechogenic halo, and microcalcifications. DDUS studies were used to evaluate the maximum and minimum flow velocity (Vmax and Vmin), systolic/diastolic flow velocity ratio (S/D), pulsatility index (PI), resistive index (RI), acceleration time (AT) and acceleration value. Results. Contour irregularity, size and presence of microcalcifications (p<0.001, p=0.02 and p=0.002, respectively) and S/D, Vmin, PI, RI and AT were significantly different (p=0.004, p=0.007, p=0.032, p=0.003 and p=0.003, respectively) were significant for malignant nodules. Benign and malignant nodules with or without suspicious US findings had similar DDUS findings. Vmax, Vmin, PI, RI, and AT were significantly different in the presence of microcalcification (p=0.043, p=0.001, p=0.031, p=0.04, and p=0.019 respectively). AT was significantly different in the case of absence of microcalcification (p=0.019). Comparing the irregular margins, Vmin, PI and RI were significantly different (p=0.014, p=0.003, and p=0.014 respectively). Conclusion. Benign and malignant thyroid nodules can be differentiated using gray-scale US findings and DDUS based indices together to reduce the number of unnecessary FNAB’s.

Chromosomal aberrations can be generally classified in two main categories: structural abnormalities (such as translocations, deletions or duplications) and numerical changes or aneuploidy. Aneuploidies are considered the most frequent chromosomal defects occurring in humans and the leading cause of miscarriage and congenital birth defects. Here we present the case of an 8-year old girl with remarkable prenatal history, low birth weight and length associated with increased height in early childhood and developmental delay. On chromosomal analysis a rare form of aneuploidy involving the sex chromosomes has been found in all cells: 48, XXXX. Tetrasomy X (48,XXXX) is a sex chromosome aneuploidy condition in which females have two extra X chromosomes compared to the 46,XX karyotype in typical females. There is significant phenotypical variability for tetrasomy X syndrome and many cases escape detection therefore the prevalence for tetrasomy X is unknown. This disorder is commonly associated with delayed speech, learning difficulties, developmental delay and facial dysmorphism, reminiscent of Down syndrome. Genetic counseling is recommended. Although no cure exists specifically for this condition, the treatment of the symptoms can be efficient. Individuals should undergo medical and psychological evaluations.