ACTA ENDOCRINOLOGICA (BUC)

A 57 years old woman was diagnosed with welldifferentiated lung neuroendocrine tumor (NET) by laboratory assessment, computed tomography (CT), contrast-enhanced magnetic resonance imaging (MRI) and bronchoscophy with transbroncial biopsy of nodular lung lesion located in the right lower lobe. Staging Ga-68 positron emission tomography-CT (PET-CT) showed two pathological uptake regions in the superior segment of the right lung lower lobe (SUVmax: 80.61) and 6th thoracic vertebral body (SUVmax: 3.70). Contrast-enhanced MRI findings suggested that vertebral lesion may be compatible with atypical hemangioma or osseous metastasis due to T1 isointensity, T2 hyperintensity and contrast-enhancement on the lesion. Therefore, characteristic imaging findings of hemangioma were seen on axial and sagittal or coronal sections of CT, respectively called as ‘polka dot’ and ‘corduroy cloth’. Thus the mild vertebral Ga-68 DOTATATE uptake was accepted as false positive finding. Surgical intervention was decided. She underwent a right lung lobectomy. The last follow-up of the patient was done 2 years after the initial diagnosis. The follow-up Ga-68 DOTATATE PET-CT revealed no pathological increased uptake in the whole-body except the 6th vertebra showing similar uptake (SUVmax: 3.50) with the previous scan without size increase on CT. The patient was asymptomatic with normal serum chromogranin A level.

Objective. The association of type 1 diabetes mellitus with autoimmune thyroiditis or with celiac disease is frequently mentioned in literature, but the concomitant presence of these three autoimmune diseases, especially in adults, represents a rarity. Case report. We present the case of a young man with severe generalized oedema admitted to the emergency department and diagnosed with severe hypothyroidism (TSH=100 μUI/mL, fT4 = 0.835 pmol/L) in the context of a long-lasting autoimmune thyroiditis (anti-TPO antibodies 64 UI/mL, anti-TG antibodies 17 UI/mL, the thyroid ultrasonography). At the same time, he was diagnosed with type 1 diabetes mellitus. He was also submitted to further tests which confirmed the diagnosis of celiac disease (endoscopy with intestinal mucosa biopsy, confirmed by immunological tests). The association of these three diseases slows down the process of reaching a final diagnosis and delays the adoption of a therapeutic strategy. Conclusion. This case underlines the difficulty of differential diagnosis of severe oedema syndrome with polyserositis in a patient with polyglandular autoimmune syndrome. Whenever there is a suspicion of the association of these autoimmune diseases, the evolution of the patient is unpredictable and most medical results are highly dependent upon the decision of applying a concomitant treatment.

Context. Previous studies have associated overt/ subclinical hypothyroidism and obesity but have failed to confirm a causative relationship between them. Confusion is even more for subjects with Hashimoto’s Thyroiditis (HT). Objective. In this study, we aimed to evaluate the fat distribution and metabolic profile of subjects with euthyroid HT as well as to establish an appropriate cut-off level of TSH for the development of metabolic syndrome (Mets) in both groups. Patients and Methods. All subjects were euthyroid whether under levothyroxine replacement or not. We recruited 301 volunteers (99 with HT and 202 without thyroid autoimmunity). Together with some metabolic variables, we measured the waist circumference, hip circumference, neck circumference manually; the total body fat with a body composition analyzer; and the visceral fat/ trunk fat percentage via abdominal bioelectrical impedance analysis. Results. A significant positive correlation was established between TSH levels and insulin, fasting plasma glucose, HOMA-IR and body mass index (r=0.28; p<0.001; r=0.27; p<0.05: r=0.32; p<0.001: r=0.13; p<0.05 respectively). The prevalence of Metabolic Syndrome (Mets) was comparable in HT and control groups (27.3% vs. 30.7%; p>0.05). The prevalence of Mets was similar when HT subjects using levothyroxine or HT subjects with accompanying thyroid nodules were taken into consideration. Similarly, anthropometric and metabolic parameters were similar in both the HT group and the control group. We were unable to establish the TSH cut-off level by ROC analysis with desired sensitivity and specificity (AUC: 0.563 with 95% C.I. p=0.35; standard error 0.76). Conclusions. Although weight gain is frequently encountered in subjects with HT, such subjects with thyroid function tests in the euthyroid range have a similar prevalence of Mets and similar metabolic and anthropometric measurements compared to subjects without autoimmunity.

Context. The clinical presentation of histoplasmosis is varied. Due to its propensity for adrenal involvement, histoplasmosis is an important differential diagnosis in any patient presenting with adrenal mass, bilateral in particular. Objective. Data on clinical presentation, pattern of adrenal involvement, radiological appearance and long-term follow-up of adrenal histoplasmosis are relatively sparse; hence we looked at it. Design. This record based single-centre retrospective study was conducted in one of the tertiary care hospitals, situated in eastern India catering the Gangetic delta. Subjects and methods. Data on demographic characters, presenting manifestations, biochemical & hormonal parameters and radiological appearance of confirmed adrenal histoplasmosis cases (n=9), admitted between 2015-2019 have been retrieved. The treatment outcome and condition of patients after 1-4 years of followup has also been discussed. Results. Four out of the nine (44.4%) patients had predisposing immunocompromised conditions in the form of diabetes and/or chronic alcoholism while rest were immunocompetent. Seven out of nine patients (77.8 %) had signs and symptoms suggestive of adrenal insufficiency, while two (22.2%) presented with only pyrexia of unknown origin. All of them had bilateral adrenal mass, though the radiologically appearances were different. All patients received anti-fungal agents with/without hydrocortisone and/or fludrocortisone. One patient died (11.1%), while majority responded favourably to treatment. Adrenocortical function did not recover completely. Conclusions. The possibility of adrenal histoplasmosis should always be considered in patients presenting with bilateral adrenal mass, irrespective of adrenal morphology. Treatment is effective, but many of them require supplemental hydrocortisone for quite a long period, if not lifelong. Mineralocorticoid deficiency, however, is not permanent.

Background. The implementation of assisted reproductive techniques (ART) is a complex treatment requiring both a good cooperation between various professional groups in the fertility centre, and the patient’s and her partner’s cooperation. Accordingly, there are many sources of failure, such as using the wrong medication or not considering optimal times. If there is an artificial application of the ovulation induction injection, the success of the treatment is endangered and in some cases the cycle is discontinued, if the patient failed to administer the drug correctly. An alternative to cycle cancellation might be the maturation of the oocytes in vitro. We report on a 31-year-old patient in whom we performed an oocyte retrieval procedure 24 hours after triggering ovulation followed by in vitro maturation of the immature oocytes over a period of more than 12 h. The treatment resulted in a healthy, ongoing pregnancy.

Introduction. The polyglandular autoimmune syndrome (PAS) type III is a rare condition defined as the coexistence of autoimmune thyroid disorder with other endocrine autoimmune diseases, including type 1 diabetes, without adrenal dysfunction. PAS may associate with other non-endocrine autoimmune diseases, overlapping with the multiple autoimmune syndromes (MAS). We present a case of PAS III/ MAS type 3, including autoimmune thyroiditis, autoimmune diabetes, vitiligo, lupus erythematosus, associated with adult-onset atopic dermatitis, a combination not reported previously. Case report. A 40 years old woman, registered as nurse working in dialysis unit, previously diagnosed with vitiligo, euthyroid autoimmune thyroiditis and disseminated granuloma annulare, with personal and familial history of atopic disorders, presented in our clinic for disseminated eczematous and lichenoid cutaneous rashes. She was tested positive for antinuclear, anti-double stranded DNA and anti-histone antibodies, with inflammatory syndrome and marginal lymphopenia and she was diagnosed with systemic lupus erythematosus (SLE). Subsequently, moderate hyperglycemia, positive anti-glutamic acid decarboxylase antibodies and low C-peptide level prompted the diagnosis of autoimmune diabetes. Recurrent flexural eczematous rashes, with negative epicutaneous tests but positive specific IgE tests for common allergens fulfilled the clinical criteria for the diagnosis of atopic dermatitis. The clinical, immunological and glycemic status were controlled with low doses of oral prednisone (<0.5 mg/kg), methotrexate (10mg/week), antimalarials, metformin, emollients and photoprotection. After changing her workplace, the immunosuppressive treatment could be discontinued, and the patient maintained normal immunological and biochemical profile at 6 months follow-up. This case brings a unique perspective on the evolution, associations spectrum and the management challenges of endocrine polyautoimmunity associated with atopic diathesis.

Hypothyroidism is a frequently diagnosed endocrine disorder that has characteristic\r\nclinical signs and symptoms. The frequency of myopathy in hypothyroidism ranges from 30 to\r\n80%. The major symptoms related are: weakness, muscular cramps and myalgia. The\r\npseudohypertrophic form is called Hoffman's syndrome and is quite rare, reassign diagnosis\r\ndifficulties both to endocrinologists and neurologists. The pathogenesis of this form of\r\nmyopathy is still unclear. We report the case of two patients, daughter and father with\r\npseudohypertrophic myopathy and hypothyroidism by Hashimoto's thyroiditis. The two were\r\npreviously treated for hyperthyroidism: first by antithyroid drugs and secondary by surgery (the\r\ndaughter) and radioiodine (the father). Both developed iatrogenic hypothyroidism that vas\r\ntreated by thyroxin replacement therapy. The muscular symptoms: progressive proximal\r\nweakness, muscle hypertrophy accompanied by stiffness, spontaneous muscular pain, muscular\r\ncramps and fatigue during mild exercise have developed during the year before admittance. In\r\nboth patients Hashimoto's thyroiditis was revealed by the high level of TPO antibodies and the\r\nthyroid appearance in sonography. Hormonal dosages confirmed hypothyroidism. Elevated\r\nvalues of CPK and electromyography established the diagnosis of thyroid myopathy. Muscular\r\nsymptoms were improved but not remitted by the thyroxin replacement therapy in adequate\r\ndoses, but CPK normalized. It is the first time that a familial case of Hoffmann syndrome is\r\ndescribed, suggesting a genetic susceptibility to the development of the syndrome.

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.

Introduction. Heart failure and dilated cardiomyopathy (DCM) in adults are rarely caused by hypoparathyroidism induced hypocalcemia. Case report. Female patient, 40 years old, diabetic, with previous history of thyroidectomy for Graves’ disease, was hospitalized for syncope and symptoms of heart failure. ECG revealed sinus tachycardia, long QT, negative T from V1 up to V4. Chest X-ray, cardiac ultrasound and contrast cardiac MRI confirmed dilated left chambers, severe systolic dysfunction of the left ventricle (left ventricle ejection fraction=15%) due to diffuse hypokinesia and restrictive type of diastolic dysfunction. Patient status insignificantly improved with specific heart failure depletion treatment but important signs of hypocalcemia occurred. Low levels of total and ionic serum calcium were detected (total serum calcium 3.6 mg/dL, ionic calcium=2.2 mg/dL) along with low serum levels of parathormone (10 pg/mL) and high level of phosphatemia (6.4 mg/dL). After one month of parenteral treatment with calcium and oral vitamin D, hypocalcemic signs disappeared and heart failure significantly improved. Conclusion. This rare adult condition is refractory to heart failure conventional therapy but promptly responds to restoration of normocalcemia. It is important to be aware of this pathophysiological setting, in order to treat it correctly.