ACTA ENDOCRINOLOGICA (BUC)

Endogenous hyperinsulinemia was found in a 38-yearold female patient with recurrent neuroglycopenic symptoms (the glucose level was 25 mg/dL, insulin 43.9 μ/mL, C-peptide 5.54 ng/mL). No lesion was found on imaging tests including enhanced computed tomography (CT) methods performed with a preliminary diagnosis of insulinoma. A suspicious hyperperfusion was present in the pancreatic tail on the perfusion CT examination performed after obtaining approval. The selective arterial calcium stimulation test (SACST) result was consistent with a diffuse disease in the body and tail. The patient underwent partial (75%) pancreatectomy and is now followed up as a diabetes patient on intensive insulin treatment at the postoperative 38th month. The most common cause of endogenous hyperglycemia in hypoglycemia patients is insulinoma. The noninsulinoma pancreatogenous hypoglycemia syndrome (NIPHS) is rarely seen in the adult age group. Although invasive, SACST seems to be the most suitable test to differentiate diffuse or multiple disease from insulinoma and to guide the surgery when advanced radiological imaging methods are inadequate to detect the presence of insulinoma. Regarding perfusion CT, it would be more appropriate to wait for comparative data to be put forward in a more consistent manner. When no response can be obtained to medical treatment in NIPHS, partial/total pancreatectomy is the most appropriate treatment option as it enables recovery from the hypoglycemic episodes despite leading to a significant condition like diabetes.

Background. Bilateral adrenal hemorrhage is a serious condition that can result in adrenal insufficiency, shock, acute adrenal crisis, and mortality if it is not managed with adequate treatment. We report a rare case of idiopathic bilateral adrenal hemorrhage. C ase presentation. A 50-year-old woman visited our hospital with complaints of right upper abdominal pain. A computed tomography (CT) revealed unilateral left adrenal gland hemorrhage. However, the results of rapid adrenocorticotropic hormone (ACTH) stimulation test and adrenomedullary hormone function test were normal. Since the patient did not show signs of adrenal insufficiency, corticosteroid therapy was postponed and only supportive management therapy was started. After 1 week, a followup CT showed a previously unseen adrenal hemorrhage on the right adrenal gland, but the rapid ACTH stimulation test result was normal. One year later, no hemorrhagic signs were observed on the follow-up CT. Conclusion. In most cases of idiopathic bilateral adrenal hemorrhage, patients are treated with steroid replacement therapy due to adrenal insufficiency. In some other cases, patients are treated with steroids despite the absence of adrenal insufficiency. Here we reported a very rare case of idiopathic bilateral adrenal hemorrhage sequentially to emphasize that before initiation of adrenal hormone replacement therapy, it is important to determine whether adrenal insufficiency is present. If there is no evidence of adrenal insufficiency, adrenal replacement therapy should be postponed until the presence of adrenal insufficiency is confirmed.

Background. Patients with Down’s syndrome have an increased prevalence of\r\nautoimmune thyroid diseases.\r\nAim. The purpose of this study was to assess the prevalence of thyroid dysfunction in\r\nchildren with Down’s syndrome (DS) and to find the best screening and management strategy\r\nin this group of patients.\r\nMethods. A total of 63 DS patients aged between 5 days and 18 years from our University\r\nHospital, were recruited. In all patients, serum free T4, and TSH were measured, the presence\r\nof congenital anomalies and specific clinical findings were assessed. Karyotype was performed\r\nin each case.\r\nResults. Sixty patients showed total 21 trisomy. Mosaicism was present in other 2 cases\r\n(3.17%) and only one girl had 47,XXder(14;21)(q10;q10)+21.\r\nHigh TSH level was seen in 24 out of 63 cases (38 %) of which 1 (1.5%) had congenital\r\nmixedema while the other 23 had a high TSH level. According to TSH levels, these 23 patients\r\nwere divided into two groups: the first group with TSH between 6-10 microUI/mL (17 patients-\r\n27%), and the second with TSH>11 microUI/mL (6 patients - 9.5%). Thyroid ultrasound was\r\nalso performed and antibodies to thyroid peroxidase, anti-TPO, were measured, when TSH\r\nlevel was high. In all cases thyroid ultrasound showed a normal located thyroid gland. In the\r\ngroup of patients with TSH level above 11 microUI/mL, two had congenital heart disease, but\r\nnone of them had gastrointestinal disease.\r\nHyperthyroidism was not observed in any of the cases.\r\nConclusions. Children with DS have high prevalence of thyroid dysfunction and\r\nbiochemical screening of this is essential. Subtle thyroid abnormalities were the most common\r\nfinding in DS.

Fetal goitre is found in about 1 in 5,000 births, usually in association with maternal Graves’ disease, due to transplacental passage of high levels of thyroid stimulating antibodies or of anti-thyroid drugs. A goitre can cause complications attributable to its size and to the associated thyroid dysfunction. Fetal ultrasound examination allows easy recognition of the goitre but is not reliable in distinguishing between fetal hypo- and hyperthyroidism. Assessment of the maternal condition and, in some cases, cordocentesis provide adequate diagnosis of the fetal thyroid function. First-line treatment consists of adjusting the dose of maternal anti-thyroid drugs. Delivery is aimed at term. In cases with large goitres, caesarean-section is indicated.

Context. Scarce data on dietary habits in Eastern European countries is available and reports investigated individual food items and not dietary patterns in these populations Objective. To identify dietary patterns and to explore their association with obesity in a sample from Romanian population. Design. Cross-sectional. Subjects and Methods. This was an analysis of data collected from 1398 adult participants in ORO study. Data on lifestyle, eating habits and food frequency consumption were collected. Results. By principal component analysis we identified 3 dietary patterns explaining 31.4% of the diet variation: High meat/High fat pattern, Western pattern and Prudent pattern. High meat/High fat pattern was associated with male gender, lower educational level, living in a rural, smoking and a higher probability for the presence of obesity (OR 1.2 [95%CI: 1.1-1.4]). Western pattern was associated with younger age, a higher level of physical activity and smoking. Prudent pattern was associated with older age, female gender, a higher level of physical activity, not smoking status and a lower probability for the presence of obesity (OR 0.8 [95%CI: 0.7-0.9]). Conclusions. This study provides for the first-time information on the association between dietary patterns in adults from an Eastern European country and the presence of obesity.

Introduction. Fahr’s syndrome is an infrequent disorder characterized by bilateral symmetrical calcification of basal ganglia and the cerebral cortex. It can be seen genetic, idiopathic, or secondary to endocrine diseases. This disease is related to different metabolic disorders particularly with diseases of the parathyroid gland. Case 1. A 63-year-old female patient applied to our clinic due to having hypoparathyroidism with bilateral basal ganglia calcification in head computed tomography(CT). She had subtotal thyroidectomy 25 years ago. In the neurological examination, mild symmetrical parkinsonism was determined. In laboratory examination Ca:8 mg/dL (8.6- 10.2), P:5.1 mg/dL (2.3-4.5), PTH:9.53 pg/mL (15-65) were detected. Calcitriol 0.25 μ/day was added to her treatment. Her parkinsonism disappeared after the treatment. Case 2. A 49-year-old male patient was consulted when he was admitted to the department of neurology in our hospital. The physical examination demonstrated the characteristics of Albright’s hereditary osteodystrophy. The neurological examination shows bilateral symmetrical bradykinesia, dysphagia, and moderate dysarthria. In the laboratory examination PTH: 46.5 ng/L(15-65), Ca:8.6 mg/dL (8.6-10.2), P:2.7 mg/dL (2.3-4.5) were detected and were all within the normal ranges. Consequently, pseudopseudohypoparathyroidism was decided as a diagnosis. G protein alpha subunit mutation (Gsα) was not detected due to technical limitations. Conclusion. When a patient is diagnosed as Fahr’s syndrome, we should keep in mind parathyroid disorders. Fahr’s syndrome must be evaluated in patients showing intracranial calcification accompanied by parathyroid diseases.

Context. Graves' disease is the most prevalent cause of hyperthyroidism worldwide. Adiponectin, the most abundant adipokine, plays a significant role in a cluster of prevalent diseases connected to metabolic disorders. Objective. Although the association between adiponectin and Graves' disease has been studied, the existing data is inconsistent. Therefore, we conducted this systematic review and meta-analysis to evaluate the relationship between adiponectin levels and Graves' disease. Methods. We performed a systematic electronic search on PubMed, EMBASE, Scopus and Cochrane Library using predefined keywords. We used the NHLBI quality assessment tools to assess the included studies. Results. There were 11 studies involving 781 subjects included in our qualitative synthesis, while 6 studies were included in our quantitative synthesis. We observed significantly increased adiponectin levels in Graves' disease patients compared to controls (MD 2.983 [95% CI 0.138– 5.828]) and hypothyroidism patients (MD 3.389 [95% CI 1.332–5.446]). Nevertheless, no significant MD was observed when comparing Graves' disease patients with and without Graves' ophthalmopathy (MD -27.124 [95% CI -88.893 – 34.645]). Conclusions. Adiponectin levels were significantly higher in patients with Graves' disease compared to controls and hypothyroidism patients. However, patients with and without Graves' ophthalmopathy did not present a significant mean difference in adiponectin levels.

We report a case of an infant with syndromic 46,XY disorder of sexual development. The subject was born at term, to unrelated parents with no relevant medical history. At birth the infant was assigned female. Physical examination showed dysmorphic features and ambiguous external genitalia. Cytogenetic analysis of cultured peripheral blood lymphocytes revealed a male karyotype. The result of the chromosomal investigation showing male genetic sex, together with the ambivalent aspect of the external genitalia (Prader IV) and gonads that are exclusively testes led to the diagnosis of 46,XY disorder of sexual development. The clinical management will help the child and the family deal effectively with this condition A multidisciplinary approach to this problem involving pediatricians, specialists in the field of endocrinology, genetics, surgery and psychiatry is necessary in order to reach a prompt and correct diagnosis and treatment.

A 74 year old lady presented with difficulty in breathing and hypoxia. She was initially treated as pulmonary embolism\r\n(PE). However, confirmatory tests did not suggest the diagnosis of PE. Further tests gave the diagnosis of an ovarian carcinoid presenting with shortness of breath and\r\nhypoxia. After an initial treatment with Octreotide, she underwent salpingooophorectomy. She became asymptomatic and made an uneventful recovery. Ovarian carcinoids can\r\nproduce carcinoid syndrome without the presence of hepatic metastases. Here we provide a short review on ovarian carcinoids.