ACTA ENDOCRINOLOGICA (BUC)

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The impact of sex hormones on body development is well known and extensively studied. It is important for physicians dealing with women with epilepsy (WWE) to understand the relationship between hormones – brain excitability – antiepileptic medication in the attempt of finding the most appropriate care for this population. This article presents current knowledge concerning 1. Influence of hormones on neuronal excitability and epilepsy (with general proconvulsant effect of estrogens and anticonvulsant of progesterone); 2. Role of sex hormones on brain development during puberty; 3. The influence of epilepsy and antiepileptic drugs (AEDs) on hormonal constellation, fertility and reproductive endocrine disorders including polycystic ovary syndrome; 4. Catamenial epilepsy (endocrinologists and neurologists should carefully investigate menstrual and epilepsy diaries, antiepileptic treatment and contraceptive method and choose treatment with either progesterone – for C1 menstrual type, or acetazolamide, benzodiazepines, antiepileptic medication for C2 and C3 types); 5. Contraception in WWE. Theoretical and practical issues are being discussed and organised into clinical practice recommendations.

Introduction. This case report is the fourth of its type in the medical literature. It describes total thyroidectomy for recurrent relapses of Graves encephalopathy (GE) despite medical treatment. Case presentation. A 33-year-old male presented with impaired consciousness and convulsions. He had postthyroid surgery recurrent Graves’ disease with a goitre. Based on this fact, high thyroid antibodies titres and the exclusion of other causes of such neurological manifestations, he was diagnosed to have GE. This is a rare variant of “encephalopathy associated with autoimmune thyroid disease” (EAATD). Despite the administration of steroid therapy and other standard therapeutic measures, he developed five relapses within 17 months. Total thyroidectomy was advised. Unfortunately, he got another severe attack that required intensive care admission. After three days of discharging, he had urgent total thyroidectomy. The operation went well and for 18 months’ follow-up he had no more attacks. However, thyroid antibodies remained high. Discussion. The report provides details on the diagnosis, standard management and the indication for thyroidectomy for GE. It describes its challenges, precautions, technique and outcomes. It reviews the extent of surgery as well as the clinical and antibody outcomes of the previous three related reports, in comparison with the current one. Conclusion. For medically uncontrolled relapse of GE, thyroidectomy consistently results in ending the attacks. It, therefore, should be put in more consideration in the treatment protocols. On the other hand, one should not depend on antibody levels as a measure of treatment success.

Severe hypercalcemia is often caused by primary hyperparathyroidism (PHP), which is not commonly seen in patients with systemic lupus erythematosus (SLE). In this case report a 77 years old woman with a history of SLE develops mild hypercalcemia secondary to unrecognized PHP that leads to a hypercalcemic crisis with a prolonged recovery. Therefore, early diagnostic evaluation of persistent hypercalcemia in patients with SLE is important for detection and appropriate treatment of PHP to avoid a hypercalcemic crisis and associated prolonged morbidity.

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.