ACTA ENDOCRINOLOGICA (BUC)

Ectopic lingual thyroid is a rare developmental abnormality caused by aberrant embryogenesis during thyroid migration. Even though, most patients are asymptomatic, uncommonly the mass can be enlarged and cause dysphagia, dyspnea, upper airway obstruction, dysphonia, hypothyroidism. We report a very rare case of ectopic lingual thyroid presenting with massive hematemesis.

Arteriovenous malformations of adrenal gland are extremely rare. We report a case of an adrenal arteriovenous malformation, mimicking an adrenal tumor in preoperative imaging. A 48-year-old woman presented to our clinic with abdominal pain. A 9x7 cm right adrenal tumor was detected. Based on the imaging findings, adrenal adenoma was suspected. However, clinical symptoms and endocrine abnormalities were absent, the lesion was thought to be non-functional. Laparoscopic right adrenalectomy was performed. Pathologically, this was diagnosed as an adrenal arteriovenous malformation. To the best of our knowledge, this is the first reported case of an adrenal arteriovenous malformation in the current literature.

Sotos syndrome is characterized by overgrowth, macrocephaly, distinctive facial features, and learning disabilities and is associated with alterations in the nuclear receptor binding SET domain protein 1 (NSD1) gene. Due to the advanced bone age, the eventual adult height is usually at the upper limit of normal. In this case report, a 6-year and 10-month old boy who presented with Sotos syndrome was described. He also had increased testicular volumes with advanced bone age. The stimulated levels of gonadotropins revealed central precocious puberty and brain magnetic resonance imaging (MRI) showed a pineal cyst. A heterozygous duplication variant [NM_022455.4:c.4560dup; p.(His1521Thrfs*9)] in the NSD1 was identified. Triptorelin acetate treatment was started. The aim was to report the novel duplication variant in the NSD-1 in a patient with Sotos syndrome accompanied by a pineal cyst and central precocious puberty, and also to discuss the rationale for treating precocious puberty.

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Background. Primary lymph nodes gastrinomas are rare and difficult to diagnose not only because of their small size, but also because modern imaging techniques have limitations in detecting duodenal and/or adjacent lymph nodes gastrinomas. Endoscopic ultrasonography is particularly useful in the identification of gastrinomas and can provide cytopathological evaluation for a gold standard diagnosis. Aim. To report a rare case of periduodenal lymph node gastrinoma and to emphasise the value of endoscopic ultrasound evaluation in patients with Zollinger Ellison syndrome. Methods. Presentation of clinical case and comments. Results. The current study reports a rare case of a patient with a small size gastrinoma located extrapancreatically and extraduodenal in a periduodenal lymph node, which exhibited the Zollinger-Ellison syndrome. Gastroduodenoscopy evidenced moderate esophagitis and multiple, superficial gastroduodenal ulcers. Basal gastrin levels were elevated. Enhanced abdominal computer tomography showed a small tumor located near the pancreas head with a very fast and fine enhancement in an early arterial phase. Endoscopic ultrasound-guided fineneedle aspiration of the periduodenal lesion was performed. Histopathology and immunohistochemistry evaluation were positive for a low risk neuroendocrine tumor. A double dose of proton pump inhibitors was recommended resulting in an improvement of symptoms. No symptoms, endoscopic lesions or additional tumors at up to 9 months of follow-up were detected. Conclusions. We report a rare case of low risk lymph node gastrinoma, small in size at diagnosis with favorable results after a double dose of proton pump inhibitors was recommended. Using endoscopic ultrasound, an early and complete diagnosis was established.

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Xanthogranulomas are inflammatory lesions exceptionally rarely occurring in the sellar region. Sellar xanthogranulomas (SXG) result from secondary hemorrhage, infarction, inflammation or necrosis upon existing craniopharyngioma (CP), Rathke`s cleft cyst (RCC) or pituitary adenoma (PA), or represent a stage in xanthomatous hypophysitis evolution. “Pure SXG” are independent of a preexisting lesion. A 70 year old male patient, laryngeal cancer survivor, presented with central diabetes insipidus (CDI). MRI revealed an intra-suprasellar mass of uncertain origin. Transsphenoidal surgery resulted in an efficient lesion resection with maximal pituitary sparing. Pathological report has confirmed SXG without conclusive identification of preexisting sellar lesion. Age at presentation and gender were atypical for SXG. The most frequent presenting signs of SXG were absent. Most SXG are initially misdiagnosed as CP, RCC or PA. Preoperative clinical and radiological uncertainty may impact operative planning. Differentiating from CP is crucial, due to divergent operative target goals and prognosis. Intraoperative frozen section analysis could guide surgical extensiveness. Close collaboration must include endocrinologist, neuroradiologist, neurosurgeon and pathologist. Quantity and quality of provided tissue are essential for avoiding bias in pathohistological analysis of cystic or heterogenous lesions. Awareness is needed of new pathological entities in the sellar-parasellar region. SXG should be considered in differential diagnosis of CDIcausing sellar lesions.

A young Caucasian woman presents several episodes of severe fasting hypoglycemia. Fasting lab tests revealed: glycemia 28 mg/dL, insulinemia 143.3 μU/mL, insulin antibodies above 100 U/mL, leading to the diagnosis of insulin autoimmune syndrome. Due to lack of clinical improvement after 2 months, prednisone was started at 0.5 mg/kg/day, and then tapered by 5 mg every 5 days. Three weeks after discontinuing corticotherapy, the patient had no more severe fasting hypoglycemia, but occasionally postprandial mild hypoglycemia. Fasting lab tests showed: glycemia 83 mg/dL, insulinemia 58.6 μU/mL. At 5 hours during oral glucose tolerance test glycemia was 33 mg/dL, insulinemia 152.9 μU/mL.

Background and aims. There are numerous intrinsic and extrinsic factors associated with the pathophysiology of rosacea, including immune dysregulation. The aim of this study is to determine the relationship between rosacea and thyroid autoimmunity. Methods. Seventy-two patients with rosacea and 62 rosacea-free control subjects were included in the study. Serum free triiodothyronine (fT3), free thyroxine (fT4), thyrotropin releasing hormone (TSH), antithyroidperoxidase antibody (ATPO), antithyroglobulin (anti-Tg), prolactin, dehydroepiandrosterone sulfate (DHEAS), basal cortisol, serum CRP concentrations and erythrocyte sedimentation rate were measured. Results. The number of the cases with high levels of CRP, anti-M and prolactin in rosacea group were significantly higher than the controls (p<0.05), there was no significant difference according to other parameters in both groups (p>0.05). There was no significant difference according to the presence of a thyroid disease in both groups (p>0.05). The decrease in the CRP parameter in patients with the disease duration of 1-5 years was found to be statistically significant (βCRP=-0.251, pCRP<0.05). There was no statistically significant difference according to disease severity or disease duration (p>0.05). Conclusions. Rosacea may be associated with high thyroid autoantibodies, prolactin and CRP levels, in which immune-endocrine interactions are important.

Introduction. Diabetes mellitus, a chronic metabolic disorder stemming from pancreatic dysfunction, is surging in India, notably among those aged 60 and above. The escalating disease prevalence in this demographic necessitates heightened medication use, escalating the risk of Adverse Drug Reactions (ADRs). This underscores the vital role of ADR monitoring to curtail potential harm. Method. A 12-month cross-sectional, prospective, observational study engaged 200 participants from the geriatric Outpatient Department (OPD). Diabetic patients in the geriatric OPD, willing to participate, underwent faceto- face evaluations using a structured questionnaire focused on adverse reactions to anti-diabetic medications. The study also included a Knowledge, Attitude, and Practice (KAP) assessment. Results. Of the 200 patients, 57% were male, 43% female. Thirteen participants (7 male, 6 female) reported ADR encounters during therapy, predominantly categorized as mild in causality and severity. KAP assessments unveiled a robust understanding of ADRs, primarily shaped by physicians and reinforced by pharmacists. Anticipation of ADR occurrence was noted in 70% of respondents, linked to non-compliance and lifestyle factors. Conclusion. Educating caregivers about the critical importance of monitoring medication adherence among the elderly is imperative. Cultivating an attitude of reporting even minor ADRs to appropriate authorities is essential for harm prevention.