ACTA ENDOCRINOLOGICA (BUC)

Background. Langerhans cell histiocytosis (LCH) is a rare group of neoplastic diseases resulting from Langerhans dendritic cells. The most common site (80%) is bones. Thyroid gland involvement is exceedingly rare and usually expected to be seen as a part of multisystemic disease. Case Report. We present a 45 year old male patient operated due to multinodular goiter and neck pain, and diagnosed with LCH in his postoperative pathologic examination. As a result of the systemic screening performed after the pathological diagnosis, the disease was interestingly localized to the thyroid gland. Systemic involvement did not develop in the two-year follow-up of the patient who did not receive additional chemotherapy treatment. Conclusion. It is difficult to diagnose LCH in the thyroid gland before surgery. Although surgical treatment with or without chemotherapy is recommended, surgery is not recommended alone since it is generally systemic involvement. However, in primary thyroid LCH cases limited to the thyroid gland, we recommend that only total thyroidectomy treatment should be kept in mind.

Neuroendocrine carcinoma (NEC) of the larynx is the most frequent neuroendocrine neoplasm of the head and neck and the most common nonsquamous carcinoma of the larynx. It usually occurs in the supraglottic area, in smoking men. We report a case of a 58-year-old woman with no history of smoking who presented with an atypical carcinoid, arising in the right piriform sinus of the larynx. During the 5-year follow-up, the patient developed metastases in the lymph nodes, palatine tonsils, parotid glands, breasts and skin. For this reason the patient underwent several surgical procedures, radiotherapy and eventually was qualified for chemotherapy. Our case shows that NEC of the larynx can have an atypical presentation. The diagnosis requires careful pathological evaluation with immunohistochemistry and a wide spectrum of imaging. The serum concentration of chromogranin A seems to be not useful in the diagnosis and follow-up of laryngeal NEC.

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Context. Diabetes is a chronic disorder with a complex pathogenetic background including monogenic, polygenic, and environmental causes. Objective. The aim of the present paper is to share the information related to genetic and clinical data of large pediatric diabetes cohort. Design. The present study retrospectively analyzes genetic and clinical findings of subjects diagnosed with diabetes under the age of 18 year and are in follow-up in a pediatric diabetes referral center. Subjects and Methods. Out of 1205 children with diabetes (902 treated with insulin) 246 underwent genetic tests on the basis of clinical selection criteria since 2007. Results. One hundred and ten variants related to diabetes were found in 89 of them. Age at presentation was 9.5±4.02 years (F/M 44/45). In total 49 pathogenic and likely pathogenic, 11 “hot and warm” of unknown significance variants were found in fourteen MODY and fifteen non- MODY genes according to criteria developed by American College of Medical Genetics. Thirty novel mutations were found. GCK (26.6%) and ABCC8 (10%) were two most frequently affected genes. Antibody testing revealed negative results in 80% of cases. Conclusions. Genetic interpretation in selected cases is important to understand the nature of the disease better. Improvement in testing opportunity and awareness might increase the prevalence of genetically explained diabetes cases. The distribution of subtypes differs between countries and even regions of the same country.

Context. This is a case of gonadotropinoma presented with Rathke's cleft cyst.\r\nObjective. We are presenting a case of gonadotropinoma along with Rathke's cleft cyst which is unique case as being male and symptomatic gonadotropin releasing adenoma.\r\nMethod. A 51 year old man was referred to our institution for evaluation of impotence and loss of libido. His endocrine screening evaluations revealed hypopituitarism with low levels of blood cortisol and ACTH, and high levels of prolactin.\r\nResults. An endonasal transsphenoidal endoscopic approach was performed and upon inspection via endoscope the floor of sella was eroded and following dural incision soft dark\r\ncolored tumor overflowed through sella. Pathology revealed gonadotropinoma with unexpected remnants of Rathke's cleft cyst.\r\nConclusion. Pituitary adenomas and Rathke's cleft cysts have a common embryologic ancestry. Our case was a symptomatic gonadotropinoma consisting of multicystic\r\ncomponent which was then demonstrated as Rathke's cleft cyst in pathological work up.\r\nThis combination may be the result of a coincidence or Rathke's cleft cysts may be the\r\norigin of the pituitary adenomas.

Context. Red cell distribution width (RDW) has been associated with type 2 diabetes (T2DM), however data in relation to diabetic ketoacidosis (DKA) and hyperglycemic hyperosmolar non-ketotic acidosis (HONK) remains unclear. Objective. The aim of this study was to evaluate the association between RDW, MCV, and RDW/MVC values and acute complications in T2DM. Patients and Methods. RDW was measured in 90 T2DM patients (30 DKA, 30 HONK and 30 T2DM without acute complications). Clinical variables were analyzed by One –Way ANOVA, Kruskal-Wallis and Pearson analysis with SPSS software. Diagnostic screening tests and ROC curve analysis determined the cut-off point of MCV,RDW and RDW/MCV values. Results. DKA patients had higher levels of plasma glucose (524.20±201.43mg/dL, p<0.001), HbA1c (10.73±2.29%, p<0.001), osmotic pressure (310.32 mosm/L, p<0.001), RDW (14.61±1.75g/L, p<0.01), and the RDW/MCV ratio (0.17±0.04%, p<0.01), compared to HONK patients. RDW/MCV cut-off value was 0.15 with 90% sensitivity 50% specifity these values for only MCV were 76.67%-70%, for only RDW were 76.67%- 63.33% respectively. The area under curve values for the ability to reflect DKA for RDW and the RDW/MCV ratio were 0.708 and 0.766, respectively (p<0.001). Conclusions. RDW and RDW/MCV ratio were found associated with DKA and valuable in predicting DKA. However these parameters were not valuable in predicting HONK.

Evans syndrome is a rare combination of autoimmune hemolytic anemia and immune thrombocytopenia. Evans syndrome in cases of Graves’ disease is extremely rare. The coexistence of these autoimmune diseases suggests that they may share a common pathogenic pathway. The case here presented is of a 36-year old female patient who was admitted for anemia and thrombocytopenia and was diagnosed with Evans syndrome associated with Graves’ disease, and was then treated with methimazole and methylprednisolone (MPSL). During follow-up, MPSL was discontinued gradually over the course of two months. Interestingly, while Evans syndrome is characterized by frequent relapses, this patient has been in remission of Evans syndrome for approximately 1 year without MPSL therapy. The remission of Evans syndrome associated with Graves’ disease in the absence of immunosuppressive therapy suggests that these 2 diseases have a common pathogenetic mechanism.

Objective. TSH-secreting pituitary adenomas (TSH-omas) are very rare disorders. This report describes the diagnosis and treatment of a thyroid-stimulating hormonesecreting ectopic pituitary adenoma in the nasopharyngeal region. Subjects and Methods. We report a 37-year-old male patient with thyroid-stimulating hormone-secreting ectopic pituitary adenoma in nasopharyngeal region. Results. A patient suffering from sweating, palpitations, dizziness and abnormality in thyroid tests was referred to our clinic. Thyroid function tests showed high basal levels of free thyroxine (FT4), free tri-iodothyronine (FT3), and serum TSH. TRH stimulation test results indicated blunted response. Scintigraphy showed increased radionuclide uptake (iodine-123), and a thyroid ultrasound scan revealed diffuse enlargement of the thyroid gland. A pituitary MRI indicated a normal pituitary. However, MRI showed a mass in the nasopharynx that was confirmed with endoscopy. Endoscopic total endonasal resection was done and the mass was removed. The pathology reported a TSHsecreting pituitary adenoma. Conclusion. In this report, an identified case of thyroid-stimulating hormone-secreting ectopic pituitary adenoma in nasopharyngeal region is reported and it is the only tenth case in the literature indicated in the nasopharyngeal region. Ectopic TSH-omas should be considered during inappropriate secretion of TSH as a candidate cause to enable correct diagnosis and improve the treatment of patients.

Objective. This study aims to investigate the effect of job characteristics and protective factors on burnout, one of the common medical staff issues. So far, little attention has been paid to testing protective factors' role on medical staff exhaustion. Design. Using a correlation design, these constructs were tested on a sample of 221 participants, doctors, and nurses. Main Outcome. The present study revealed protective factors power in predicting burnout, over job characteristics, and the moderation effect of role-playing in the medical care unit and clinical department. Measures. For assessing burnout were used a Romanian translated version of the Maslach Burnout Inventory – General Survey (MBI). Results. Protective factors like physical activities, vacation, and hours spent with family introduced an explanatory model and had a predictive validity over job characteristics in predicting medical staff's burnout. Finally, the effect of physical activities on burnout was moderated both by the role played in the medical care unit and clinical department, while the effect of time served in other medical institutions was moderated only by the role played in the medical care unit. Conclusion. These results provide guidance for better burnout programs interventions, which are addressed to medical healthcare experts.

Background. Mosaic karyotype 45,X/46,XY related mixed gonadal dysgenesis. Aim. To report a case of mosaic karyotype and petroclival meningioma. Methods. Presentation of a clinical case with comments. Results. The case of a 37-year-old woman mosaic karyotype - 45,X/46,XY, infertility, virilisation, Turner syndrome-like phenotype, primary amenorrhea, the absence of labia majora and petroclival meningioma. Concentrations of dehydroepiandrosterone sulphate (DHEAS), testosterone, luteinizing hormone (LH) and follicular stimulating hormone (FSH) were increased indicating hypergonadotropic hypogonadism. Low and high dose dexamethasone suppression tests demonstrated incomplete suppression of DHEAS concentration without connection between pulses of LH/FSH and DHEAS. Response to adrenocorticotropic hormone (ACTH) was normal. The morning/evening concentration ratio of DHEAS was very low in comparison with cortisol, ACTH and testosterone. Head magnetic resonance imaging (MRI) demonstrated petroclival meningioma without any adrenal or ovary abnormality. Menstruation started after treatment with 2 mg of estradiol. At control visit 1.5 years later she had no complaints. MRI did not demonstrate any signs of tumour progression. Conclusions. The main lesson learned from this case is that in searching the DHEAS secreting tumours one can find unusual cases with sustained high DHEAS and lack of confirmations of polycystic ovary syndrome, adrenal or ovary tumours using available ultrasound, CT and MRI.