ACTA ENDOCRINOLOGICA (BUC)

Introduction. Wolfram Syndrome (WS) is a rare autosomal recessively inherited disorder characterized by juvenile-onset diabetes mellitus (DM), diabetes insipidus, optic atrophy (OA), hearing loss and neurodegeneration. This report describes three cases with WS. Case report. The first case was diagnosed with DM and OA at the age of 6 and 11 years, respectively. Second patient was the sibling of the first patient, also had DM and was investigated for WS after his brothers’ diagnosis. The third patient was diagnosed with DM at the age of 5 years and developed bilateral sensorineural hearing loss and OA at the ages of 7 and 12 years, respectively. Preliminary diagnoses of all patients were confirmed by Sanger sequencing of the WFS1 gene. Two previously reported and a novel mutation were detected. While our first patient was diagnosed with attention deficit hyperactivity disorder previously described in WS patients, obsessive compulsive disorder observed in case 2, was not previously reported in WS to the best of our knowledge. Puberty delay was detected in our first patient and was diagnosed as constitutional delay of puberty and growth. Conclusion. Early diagnosis of WS can lead to early detection of associated pathologies and to decrease complications, morbidity and mortality.

Paget’s disease is a disorder of aging bone which occurs in the setting of accelarated bone remodelling. In the presented case we discuss the difficulties in the diagnosis of Paget’s disease in a 77 year old patient with coexisting endometrium carcinoma. The patient was initially diagnosed with metastatic bone disease due to endometrium adenocarcinoma when she was admitted to oncology clinic with pelvic pain. Bone scintigraphy with Tc99 and (18) F fluorodeoxyglucose positron emission tomography/CT revealed an increased uptake on the bone lesions which were reported as metastatic bone involvement. Although the (18) F-FDG uptake was much higher than the levels that would generally be anticipated in a case with Paget’s disease, high levels of bone turnover markers indicated further evaluation in the differential diagnosis and the definitive diagnosis of Paget’s disease was established with the pathological evaluation of bone biopsy.

The study comments unusual associations between thyroid and cutaneous autoimmunity: Graves-Basedow disease (GBD), vitiligo and alopecia areata (AA) starting from two cases. In the first case, a woman with systemic lupus erythematosus (SLE), data were recorded from 38 to 49 years as follows: vitiligo (at 38 ys), alopecia areata (4-6 months afterwards), SLE (after 2 ys) and then GBD (after 8 ys). After 3 years, hyperthyroidism has spontaneously vanished, but vitiligo, AA, leucothrichia, SLE, goiter and ophthalmopathy persisted. In the second case, a man, data were recorded from 26 to 70 years and the disease was associated with psoriasis. The sequence of diseases was: vitiligo (at 26 ys), AA and GBD (after 8 ys), followed by iatrogenic 131I hypothyroidism, and psoriasis (after 33 ys). Vitiligo and AA have spontaneously vanished before GBD began. These multiple immune syndrome associations bring up the question: ?Are these diseases multiple associations or a unique immune disease?? A possible point of view, related to immune network, suggests that these multiple associations represent in fact only one process, therefore they represent not many diseases, but different expressions in time (sequence) and space (organ-lesion) of the disease of the immune network.

Thyroid isthmus agenesia (TIA) which is characterized by the absence of isthmus is one of these anomalies and its etiology is unclear. Marine Lenhart Syndrome (MLS), on the other hand, is defined as the coexistence of Graves disease and hyperactive nodules,although the diagnostic criteria are not clearly defined. Fifty five years old male patient with no concomitant disease had been diagnosed with MLS and accompanying subclinical hyperthyroidy for two years. He had dysphagia for a year. Neck ultrasound revealead retrosternal goiter with multiple hypoechoic nodules with the largest size of 33x30 mm. He had normal FT3 and FT4 levels with a decreased level of TSH. Scintigraphy revealed diffuse thyroid uptake with a hyperactive nodule of 16x11 mm on right upper lobe. Due to compressive sypmtoms and MLS he underwent surgery and diagnosed with thyroid isthmus agenesia peroperatively. MLS and TIA are rare thyroid pathologies and their etiopathogenesis has not been clarified yet. This case is thought to be the first case in which MLS and TIA coexistence was reported. Even though it is a rare disorder,having a basic knowledge about TIA can be an important step in establishing a treatment plan and avoiding possible complications. Especially in management of MLS, when surgery is considered the physician should be careful for presence of a TIA.

Introduction. Pituitary apoplexy is a rare, acute, and life threatening condition due to haemorrhage or necrosis within a pituitary adenoma. Its prognosis may be poor leading to a fatal issue, or be good inducing a decrease or cure of the pituitary adenoma as in the case presented.\r\nCase report. A man, aged 28 years, having a history of well proved acromegaly [Growth hormone =GH=205ng/mL (n<5),\r\nand pituitary adenoma measuring 19x16mm] with diabetes mellitus (Glycaemia 4g/L, glycosuria++++, with ketoacidosis) treated with insulin for one year, was referred for\r\nnumerous hypoglycaemias which obliged him to stop insulin and diet. Just before, he had an acute episode of headaches, nauseas and vomiting. Clinical exam showed typical\r\nacromegaly, but pituitary assessment demonstrated low GH=0.05ng/mL, normal IGF1, without pituitary deficits. Routine analyses were normal. Fasting glycaemias, and glycaemias after glucose loading were normal too. Cerebral MRI showed a significant decrease in pituitary tumour (10 x\r\n16mm). Ten years later, glycaemias, GH, IGF1, and other pituitary functions remained normal, the necrotic pituitary process decreased up to 4.5 mm in height.\r\nConclusion. This clinical history and outcome argued for a pituitary apoplexy secondary to apparently spontaneous\r\nnecrosis of a somatotrop adenoma that induced a total cure of acromegaly and diabetes mellitus.

Context. Neuroendocrine tumors are tumors developing from primitive cells in the intestinal walls, but can also affect the lungs, liver, pancreas, ovaries. Objective. We aim to describe the clinical, imagistic and biologic aspect of neuroendocrine tumors with different localizations and present the evolution, treatment options and prognosis. Design. Four patients either with previously known neuroendocrine tumors or with newly discovered tumors were studied. Subjects and methods. The first patient was diagnosed with primary liver carcinoid with pulmonary metastases by abdominal and thoracic CT scan, liver biopsy and determination of serologic markers. The second patient was diagnosed with primary lung neuroendocrine tumor using thoracoscopy biopsy and serologic markers The third patient was diagnosed with a large gastric neuroendocrine tumor with liver and spleen metastases. using CT scan, MRI and biopsy from the abdominal mass. The fourth patient was diagnosed with primary liver carcinoid using imagistic methods (CT scan) and liver biopsy. Results. The first patient died after 4 months due to the extent of the disease and comorbidities. The second patient had a good evolution, as the tumor was diagnosed in a localized stage. The third patient had a decreased survival due to the dimensions of the primary tumor and the multiple liver metastases which later caused obstructive jaundice requiring external biliary drainage. The fourth patient has had a good evolution, the tumor masses in the liver are being kept under control using transarterial chemoembolization. Conclusion. Neuroendocrine tumors are very versatile both in location and clinical aspect. The diagnosis requires imagistic methods but it is imperative to perform biopsy of the lesions with special histologic stains in order to be sure of the diagnosis.

We present the case of a 32 yeas old male, diagnosed 7 years ago with Graves disease, with numerous recidives which needed anti-thyroid medication, with poor response (hypo to hyper-thyroid status, with high variations of TSH and FT4) whom after a period of remission (8 months, no treatment) came in for a polymorphic symptomatology sugestive for hyperthyroidism. The hyperthyroid state was confirmed he had high TRAb (31 UI/ml vs. <1.75 UI/ml) - on his last check in the detection rate of TRAb was under 0.3 UI/ml. The thyroid ultrasound revels on the left lobe a small mass of 0.8/0.8 cm, with EU-TIRADS score of 4, that was newly diagnosed. Postoperative histopathology revealed papillary microcarcinoma developed on Hashitoxicosis- pT1aN0, of 1 mm in the middle of left thyroid lobe. The particularity of this case consists in a long evolution of Graves disease with numerous relapses, the appearance of a thyroid nodule after 7 years in which they identified a papillary microcacinoma associated with Hashimoto thyroiditis and also the postoperative recovery that was slowed by the parathyreoprive tetany.

Context. Acromegaly is a rare and serious syndrome and commonly associated with pituitary neoplasm. Classic cause of acromegaly in adults is the tumors of the somatotrophs that secrete growth hormone. Cirrhosis is the end stage of chronic liver disease and commonly a cause of death. It is\r\ncharacterized by diffuse hepatic fibrosis resulting in altered construction of the lobular parenchyma with widespread connective tissue septae, circumscribed\r\nregenerative nodules of hepatocytes and anastomoses between vascular channels linking portal and central vessels.\r\nObjective. To report the simultaneous cases of acromegaly and cirrhosis.\r\nCase report. A 62-year old, male patient came to the hospital complaining of severe abdominal swelling. Laboratory and imaging findings were compatible with the\r\npresence of hepatitis B virus related cirrhosis together with acromegaly. In this case, he had high GH level but lower IGF-1 level because of hepatic failure which can\r\nimpair IGF-1 production by the liver. Definitive diagnosis was made by pituitary MR and a 1 cm in diameter tumor was\r\ndetected.\r\nConclusion. This paper showed that cirrhosis can result in a low IGF-I level in patients with acromegaly. There is no\r\nprevious report available of the in the presence of coincidental combination of acromegaly and cirrhosis in a patient.

Prolonged target gland failure causes pituitary hyperplasia, but rarely, secondary hyperplasias develop into autonomous neoplasms. We report herein a rare example of gonadotroph adenoma arising in a patient with prolonged hypogonadism due to Klinefelter syndrome. A pituitary macroadenoma with suprasellar extension was discovered incidentally by magnetic resonance imaging (MRI), in search for the cause of chronic saliva retention. His pre-operative serum concentrations of both luteinizing hormone (LH) and mostly follicle-stimulating hormone (FSH) were distinctly higher than normal, as expected, but the levels decreased after complete removal of the tumor, suggesting partial secretion of gonadotropins by the tumor. The surgically removed tissue showed a typical pituitary adenoma with distinct immunoreactivity for FSH (intense, homogeneous) and LH (scattered). In the fragmented parts of adjacent gland tissue, no hormone producing cell hyperplasia or presence of gonadal deficiency cells were detectable. In conclusion, our case is the description of a rare example of gonadotropin producing pituitary adenoma (FSH and LH) with increased serum levels of both gonadotropins in a patient with untreated Klinefelter syndrome.

Introduction. The prevalence of obesity has reached alarming levels in the European Union, including in Romania. Data on the prevalence of obesity is only available at the national populational level, but this may hide the increased levels in disadvantaged groups. The purpose of this study was to evaluate the prevalence of overweight and obesity in the Roma population in Southern Romania. Material and method. This cross-sectional, epidemiological, non-interventional study was conducted from March 2014 to May 2017 in several settlements from Calarasi County. Screening procedures included interviews about medical history, lifestyle, anthropometric and clinical measurements and fasting capillary glucose. Results. The study population consisted of 1120 adult subjects, of which 735 Roma. In Roma population group, the prevalence of underweight, normal weight, overweight and obesity was 4.5% (n=33), 25% (n=184), 25.3% (n=186) and 45.2% (n=332) respectively. In Romanian Caucasians group, the prevalence of underweight, normal weight, overweight and obesity was 2.3% (n=9), 20% (n=77), 33.8% (n=130) and 43.9% (n=169) respectively. Among the Romanian Caucasians significant predictors of obesity were a sedentary lifestyle and current smoking. The odds of being obese in Roma population were higher in sedentary lifestyle persons and lower in current smokers, with primary education, and in those living in rural settlements. The family history of obesity had a significant association with obesity only in Roma population. Conclusions. Our results confirm the need to implement prevention programs in high-risk populations due to the double burden of malnutrition, lack of medical education and preventive healthcare, low socio-economic level.