ACTA ENDOCRINOLOGICA (BUC)

Introduction. Vitamin D (VD) deficiency is highly prevalent worldwide. Aim. To assess the prevalence of hypovitaminosis D in HIV-positive Romanian patients compared to controls. Methods. Serum 25OHD concentration was measured in HIV-infected patients and a control sample, matched by age, sex and menopausal status. The 25OHD status was defined as: deficiency < 20 ng/mL (severe deficiency <10 ng/mL), insufficiency 20-30 ng/mL, normal >30 ng/mL. Results. We evaluated 118 HIV-positive patients (72 males, 46 females), aged 36.9±12.2 years. 98.14% of them were on complex antiviral regimens. The B/C hepatitis coinfection rate was 9.3%. The control sample consisted of 119 subjects, (74 males, 45 women). The median and interquartile range for serum 25OHD concentration in patients was 17.6 (9.7, 26.9) ng/mL and 23.7 (18.4, 27.5) ng/mL in controls (p=0.001). Only 15.96% of HIV-positive cases and 12.71% of controls had normal VD status. The percentage of cases with severe VD deficiency was significantly higher in HIV positive cases (23.52%) compared to HIV-negative controls (4.2%, p=0.001). Conclusions. Hypovitaminosis D was identified in 84.04% of HIV-infected patients, but the serum 25OHD concentration was not associated with specific HIV-related factors in our sample. Clinical guidelines regarding VD status determination and supplementation in HIV patients are needed.

Context. Craniopharyngiomas (CPH) are benign tumors, rarely encountered in children, representing 5-6% of all intracranial tumors. Objective. This study aimed to analyze the surgical management and quality of life in a series of CPH pediatric cases. Design. This was a multicenter study performed over a 25-year period (1994 - 2019) in Bucharest. Subjects and Methods. 152 children (0-17 years old) were treated for CPH. Preoperative manifestations were intracranial hypertension, endocrine dysfunction, visual impairment, ataxia, intellectual performance decrease. Results. Considering all surgical approaches used, we advocate for pterional approach to best fit in CPH. We achieved gross-total removal (GTR) in 83 cases (54.4%), near-total resection (NTR) in 13 cases (9%), partial resection (PTR) in 51 cases (33.3%). 5 cases were biopsies (3.2%). Gamma Knife Surgery was performed in 10 cases (6.5%), all recurrences. At 6 months GOS revealed: Good Recovery 70 cases (46.2%), Moderate Disability 62 cases (40.7%), Severe Disability 13 (8.5%), Vegetative State 2 cases (1.3%), Deceased 5 cases (3.2%). Complications were: diabetes insipidus (89.3%); hypopituitarism (66.4%); hypothalamic damage (17.7%); visual deterioration (18.4%). Conclusions. Surgery remains the main option, but GTR complications prove the necessity for a multidisciplinary approach. Outcome predicting factors are: age, tumor size, hydrocephalus degree, hypothalamic dysfunction.

Introduction. Immune Dysregulation, Polyendocrinopathy, Enteropathy X-Linked (IPEX) Syndrome represents a rare X linked disorder, characterised by development of systemic autoimmunity from the first year of life. IPEX is due to mutations in the FOXP3 gene located on the X-chromosome. There are no specific laboratory tests to confirm the diagnosis. Molecular analysis of the FOXP3 gene(Xp11.2-q13.3) is required for the diagnosis. Chronic immunosuppression and hematopoietic stem cell transplantation represent the two main therapeutic interventions for this immune dysfunction, the last one being the only curative treatment. Case presentation. The authors present the case of a male patient aged 14 years old, who was admitted for ketoacidotic diabetes onset. He was diagnosed with polyendocrine autoimmune association (diabetes mellitus type 1, autoimmune thyroiditis and hypo-gonadotrophic hypogonadism). This patient associated celiac disease, sustained on clinical, immunological and histological changes:recurrent diarrhea, positive IgA anti-tissue transglutaminase antibodies and total villous atrophy on intestinal biopsy sample. He also presented recurrent eczematous dermatitis associated to elevated serum concentration of immunoglobulin E. The authors sustained the diagnosis of IPEX syndrome in this case based on family history of unexplained early deaths of the patient´s uncles from the motherside, along with clinical and laboratory aspects. Drug treatment included nutritional support, immunosuppressant therapy and hormone replacement. Conclusions. The most important aspect in this case was considering IPEX syndrome after integration of all clinical and paraclinical data but without molecular analysis of the FOX P3 gene. The presumption of IPEX syndrome reconsidered in this case the treatment and the prognosis. Life expectancy is reduced in this condition that usually occurs in the first months of life. The particularity of this case was the late onset of IPEX syndrome, presenting a severe phenotype with aggressive autoimmune associations that led finally to the patient’s death.

The optimization of the diagnosis and therapy strategies, and also their standardization represent a continuous activity of the professional societies. The aim of the study is to review the data from the literature, regarding the thyroid cancer guidelines and to propose a national consensus, especially for differentiated thyroid cancers. There were analyzed the guidelines of diagnosis and treatment for thyroid nodules and thyroid cancer published by the European and American Thyroid Associations (ETA, ATA), by British Thyroid Association, American Association of Clinical Endocrinologist (AACE) and endocrine surgeons (AAES), by European Association of Nuclear Medicine (EANM) and American and European Societies of Clinical Oncology (ASCO and ESMO). We studied the national cancer registry, the institutional cancer registry and the database of nuclear medicine departments from Romania, regarding the limits and instruments as are registered at the National Nuclear Committee. The significant increase of the incidence of thyroid cancer and of the epidemiological data concerning the high percentage of clinically and ultrasoundly detected thyroid nodules, requires a debate around a consensus for the diagnosis and treatment of the differentiated thyroid carcinoma.

Insulinoma in a patient with pre-existing diabetes mellitus is very rare.\r\nWe report a case of a malignant insulinoma in a 78-year-old patient with type 2 diabetes mellitus who, after 6 years of insulin treatment, experienced recurrent episodes of\r\nhypoglycaemia, with progressive reduction of dosage to cessation. Endogenous hyperinsulinism was confirmed: glucose 35 mg/dL (74- 106), insulin 23.7 &#956;U/mL (7- 17),\r\nand negative test for sulphonylureas in the plasma. Endoscopic ultrasonography, magnetic resonance and axial computer tomography identified a non-resectable pancreatic tumour, an infiltrating mesenteric vein, as well as metastatic lesions in the liver. After chemoembolization of metastases, initial reduction of hypoglycemic attacks occurred. A few months later, hypoglycaemia recurred, and combined treatment with somatostatin analogs and diazoxide was employed. Although hypoglycemic agents are the commonest\r\ncause of hypoglycemia in type 2 diabetes, insulinomas may occur in these patients. A high degree of suspicion for the presence of an insulinoma should be maintained when\r\nunexplained hypoglycemic episodes occur in a patient with previously stable diabetes despite dose adjustment or cessation of the drugs.

Context. Parathyroid carcinomas (PC) are rare. Imaging and laboratory tests can suggest a diagnosis of PC, but pathological examination is ultimately required to confirm the diagnosis. Objective. The clinicopathologic data, diagnosis, and treatment of a case of PC diagnosed in our hospital in 2022 are retrospectively summarized in this case report to improve the understanding, diagnosis, and differential diagnosis of this disease. Design. Case report. Subjects and Methods. Herein, we present the case of a 35-year-old man who presented with imaging and laboratory findings suggestive of a parathyroid neoplasm. Results. The patient underwent radical resection of the tumor, which was histopathologically diagnosed as PC. Conclusion. In this case, the clinical manifestations of PC were insidious, and the histological features had to be differentiated from tumors, such as parathyroid adenoma, clear cell renal cell carcinoma, and medullary thyroid carcinoma; thus, its diagnosis was challenging.

Gender diversity is currently recognized as a natural variation of human identity rather than a pathological condition, with the term “gender identity disorder” being replaced in the eleventh revision of the International Classification of Diseases and Related Health Problems (ICD‐11) by “gender incongruence” and reclassified under “conditions related to sexual health” rather than within “mental and behavioral disorders”. Lack of access to genderaffirming care or delays in treatment are associated with poorer physical, psychological, and social outcomes. Current concepts and clinical practices in gender-affirming care focus on the multidisciplinary integration of endocrine and surgical management. This review summarizes diagnostic considerations and surgical perspectives on transgender patient care from a plastic surgery standpoint, while endocrinology specialists manage hormonal therapy. Surgical treatment for transgender women may include procedures such as breast augmentation, body contouring procedures, vaginoplasty, facial feminization, reduction of the thyroid cartilage, and surgeries intended to alter voice characteristics. The surgical options for transgender men include bilateral mastectomy, placement of pectoral implants to create a male-contoured chest, total hysterectomy and salpingooophorectomy, vaginectomy, scrotoplasty, placement of testicular prostheses, metoidioplasty or phalloplasty, and body contouring procedures. This review aims to support clinicians by synthesizing current evidence and best practices to promote safe, effective, and individualized multidisciplinary treatment for transgender and genderdiverse patients.

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.

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.

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.