ACTA ENDOCRINOLOGICA (BUC)

Objective. Congenital hypothyroidism (CH) is one of the common preventable causes of intellectual disability in neonates, by early detection through neonatal screening. We present the 8-year experience of the National Institute for Mother and Child Health (INSMC) in using MEDILOG national registry for the neonatal screening of CH. Methods. Neonatal screening for CH, done by TSH measurement in dried blood spot, is organized in 5 regional centers, each with a reference laboratory. Results. In 2018 80% of all the newborns, from 80% of the maternity hospitals, were registered in MEDILOG. After re-testing of TSH and T4/FT4 from venous blood in positive cases, the incidence of confirmed CH in 2018 was 1/3576 - 1/ 4746. In INSMC center (which includes 26 counties and Bucharest, out of 41 counties), in 2018 the incidence of positive CH cases at screening was 1/2094 (TSH cut-off ≥17 mIU/L) and of confirmed CH cases 1/3576 newborns. For positive screening cases, the median duration from birth to the INSMC laboratory result was 19 days: median of 9 days between screening and laboratory registration and 6 days between registration and test result. Conclusion. MEDILOG registry is a practical instrument for monitoring the steps of neonatal CH screening, the incidence of CH, the evolution of the diagnosed cases, for evaluation of iodine deficiency (by neonatal TSH), and also for research, with the aim of improving early disease detection and treatment.

Objective. To examine the prevalence of laryngopharyngeal reflux disease (LPRD) in patients with hypothyroidism.\r\nMaterials and Methods. A total of 85 patients with hypothyroidism vs 31 matched controls were recruited. Demographic data was collected and an RSI questionnaire\r\nfilled. A score > 10 was considered diagnostic of LPRD. The average score of every question was computed for all patients and compared to the corresponding average score in controls.\r\nResults. Mean age of hypothyroidism patients was 44.92 ? 13.77 years (83% females). One third of subjects were smokers and 10% had allergy. In 78.8% of the cases Hashimoto?s disease was the etiological factor and 22.4% patients had history of thyroidectomy. At the time of examination, only 30% had a TSH > 4.2 mU/L. There was\r\na borderline significance where more patients than controls had a RSI > 10 (24.7% patients vs. 9.1% controls), but with non-significant difference (p = 0.077). Similarly, closer\r\nexamination of those with TSH > 4.2mU/L compared to those with controls revealed a higher prevalence in the former group, but statistically non-significant (p = 0.275). A\r\ncomparison between those with TSH > 4.2 mU/L and cases diagnosed with hypothyroidism and normal TSH revealed no\r\nsignificant difference in the prevalence of LPRD. All laryngopharyngeal questions had a score higher in the hypothyroid group than controls.\r\nConclusion. LPRD is more prevalent in hypothyroidism patients compared to normal individuals, but with nonstatistically significant difference. The prevalence of symptoms should alert physicians to the possibility of LPRD and prompt further diagnostic tests and therapeutic intervention.

Background. Ovarian hyperstimulation syndrome (OHSS) is a potentially life-threatening complication of the luteal\r\nphase or early pregnancy after ovulation induction or ovarian stimulation. The late OHSS form presents an onset more than 10 days after ovulation triggering and is\r\ninfluenced by pregnancy-related HCG secretion.\r\nReport. This paper presents three cases of pregnancy-related OHSS after IVF/ICSI cycles discussing risk factors and management according to European Guidelines.\r\nResults. Individual risk factors are identified such as low BMI, high antral follicle count at the beginning of the ovarian stimulation, high estradiol over 3000 pg/ml.\r\nPatients had moderate OHSS (case 2) and severe OHSS (case 1 and 3). In-patient treatment was 3-14 days. OHSS resolved in\r\nall cases, without manifestations of the critical form.\r\nConclusion. The duration of OHSS is longer in the late form, is pregnancy-related and should be monitored for adverse\r\npregnancy outcomes. However the incidence of fatal risks is low and the treatment is successful.

Objective. A partial or complete deficiency of hormone secretion by pituitary gland (hypopituitarism) is commonly seen after a pituitary apoplexy caused by an infarction of a pituitary adenoma or pituitary hyperplasia (as in Sheehan’s syndrome). Hypopituitarism may also follow surgery, when hypovolemia, anticoagulation, fat/ air/bone marrow microemboli can provoke a pituitary infarction/hemorrhage. Other causes of abrupt hypophyseal hypoperfusion, as hypovolemia during a septic shock, could also contribute. In the last mentioned situation, due to the complex endocrine-immune interrelation, sepsis could be masked and improperly managed. Case report. We report a case of a 72 years-old Caucasian woman, previously healthy, who underwent an orthopedic surgery for a femoral fracture. This event apparently triggered a central-origin hypothyroidism, misinterpreted as “post-surgical psychosis”, which, in turn, masked a symptomatology of a subsequent severe sepsis. The patient was admitted in the infectious diseases department with a severe gut-origin sepsis, needing surgery and long course antibiotics. The pituitary insufficiency was reversed. Conclusion. Pituitary apoplexy is an uncommon but potentially life-threatening disease, and could be precipitated by successive events – in our case an orthopedic surgery and a subsequent severe sepsis. It needs recognizing (has intrinsic severity and could mask other serious conditions), treat and monitor (could progress and/or reverse).

Familial hypercholesterolemia (FH) is a genetic disease with autosomal dominant transmission, characterised by high blood cholesterol levels. The evolution of this disease leads to primary atherosclerosis and cardiovascular disease. Patients with HF develop atherosclerosis by the age of 20 and usually do not survive past the age of 30. We present the case and oro-dental aspects of a preschooler that was diagnosed at the age of 4 with FH, compound heterozygote (mutation/genotype1 LDLR: C20IX, exon 4; mutation/ genotype2 LDLR: G571E, exon 12) and the experience of our clinic in the management of this patient that received offlabel treatment with statins. When diagnosed, his cholesterol level was 932 mg/dL and his LDL-cholesterol level was 792 mg/dL. Treatment with rosuvastatin and ezetimibe was prescribed. Both substances (rosuvastatin and ezetimibe) are not approved for children under the age of 6 in Europe. Taking into considerations the diagnosis and prognosis for unfavorable evolution, treatment with statins was started at the age of 5 years.

The detection of thyroid nodules in a patient with Graves’ disease is not a rare event.\r\nThe management of these cases still represents a controversial problem for clinical practice.\r\nThis paper describes the case of a patient with Graves’ disease and a concurrent\r\nfollicular thyroid carcinoma, presenting as a clinical palpable nodule in the right lobe.\r\nThyroid function tests confirmed thyrotoxicosis. Immunological investigations showed high\r\nlevels of TSH-R antibodies. Thyroid ultrasound revealed an increased thyroid volume with\r\na diffuse low echogenicity of parenchyma and in the right lobe a single homogeneous\r\nhypoechoic nodule. The scintiscan indicated the presence of a “cold nodule” in the right lobe\r\nand increased uptake in the rest of parenchyma. Antithyroid drug therapy was\r\nrecommended. Cytological exam indicated an “indeterminate” smear. After euthyroidism\r\nwas achieved, surgical therapy was recommended and near total thyroidectomy was\r\nperformed. The morphopathological exam revealed an invasive follicular carcinoma on a\r\ndiffuse thyroid hyperplasia (Graves’ disease). This case report is followed by a discussion\r\nabout the incidence of malignancy in thyroid nodules concurrent with Graves’ disease. The\r\ncriteria that raised concern about a possible malignancy of the nodule are presented.\r\nIn conclusion, we recommend that patients with Graves’ disease should undergo a\r\nregular examination of the thyroid gland for an early detection of possible malignant\r\nnodules. The intervention of choice in these cases should be near total or total\r\nthyroidectomy, if malignancy cannot be excluded by preoperative evaluation.

Context. Ghrelin is a hormone secreted primarily from stomach that can affect growth by its somatotropic and orexigenic activities. Objective. The aim of this study was to investigate the relationship of ghrelin and growth in children and adolescents with idiopathic short stature. Subjects and Methods. After thorough clinical examination, 56 subjects including 31 with normal weight and height and 25 with short stature were evaluated for fasting total (TG) and acylated (active) ghrelin (AG) levels. All the parameters of growth including growth hormone and IGF-1 levels, bone age and body mass index were also investigated. Appetite was also assessed and all the studied subjects were also divided into two groups, poor or good appetite. Results. TG and AG levels were not significantly different in the two groups. There was not any significant correlation between ghrelin and parameters of growth. On the other hand, TG concentration was significantly higher in subjects with poor appetite, but AG was not significantly different. Conclusions. The results of this study show that ghrelin is not significantly altered in idiopathic short stature. Although TG is increased in children with poor appetite its acylation is not increased concomitantly.

The aim of this study is to analyze and identify the main predictors that may indicate multifocal growth of PTC. Materials and methods. The main and control groups included patients with the category of malignant multifocal process T1-3mN0Mx (n=109) and unifocal T1- T3N0Mx (n=50) respectively, who underwent thyroidectomy with lymphadenectomy. Ultrasound characteristics of the nodes, tissue changes of the thyroid gland were taken into account. Results. Fibrous changes can be considered as one of the risk factors of the presence of additional PTC lesion. Discussion. There is no unambiguity in the definition of predictors of multifocal PTC growth. Conclusions. No clear predictors of multifocal PTC have been identified. It is advisable to improve the quality of ultrasound, to focus on single-focus PTC in patients with fibrinous changes in the thyroid gland at normal levels of TSH.

Context. Both human immunodeficiency virus (HIV) infection and hepatitis C virus (HCV) infection represent systemic diseases that may develop metabolic complications, thus HIV/HCV coinfection metabolic changes need to be depicted. Objective. We aimed to evaluate the body composition changes in patients with either HIV and HCV monoinfections or HIV/HCV coinfection. Methods. 123 young men divided into three groups: 41 with HIV/HCV coinfection, 42 with HIV-monoinfection, and 40 with HCV-monoinfection were evaluated for total and regional bone and soft tissue body composition assessments using a Dual-energy X-ray absorptiometry (DXA) and were compared with 40 healthy men with age and body mass index similar to the study groups. To detect sarcopenia, we calculated the appendicular limbs’ lean mass index (ALMI), for obesity, we used the percent of body fat, and for lipodystrophy, we calculated the trunk/limbs index. Results. HIV/HCV coinfection is associated with a significant higher bone demineralization in all regions of interest compared to HCV or HIV monoinfections and to controls. The prevalence of bone demineralization in HIV/ HCV patients was 31.7%, more frequently at lumbar spine. Fat mass and lean mass were significantly lower in HIV/ HCV-coinfected patients than in controls. Lipodystrophy was found in similar percentages in all three evaluated groups (80.4% in HIV/HCV, 92.5% in HIV, and 95% in the HCV group). Sarcopenia was higher in HIV/HCV group (43.9%) and important in HCV-monoinfection group (30%). Conclusions. HIV/HCV-coinfected patients had the highest prevalence of bone demineralization, fat mass, and lean mass loss, compared to controls and to HIV and HCV monoinfections.

Context. In HIV+ patients, several factors related to patient and antiretroviral therapy (ART) could determine early onset of bone mineral density (BMD) disturbances. Objective. Evaluation of bone quality according to gender in patients from the HIV Romanian cohort. Design. A cross-sectional study in “Prof. Dr. Matei Balș” National Institute for Infectious Diseases, Bucharest between 2016-2018. Subject and Methods. We collected data regarding HIV infection, ART history, viral hepatitis co-infections and we calculated patients body mass index (BMI). CD4 cell count, HIV viral load (VL), vitamin-D levels were determined. Dual-energy X-ray absorptiometry (DXA) scans were used to evaluate BMD. Results. We enrolled 97 patients with the median age of 26 years. According to the DXA T-scores, 10 males and 8 females had osteopenia and 4 males and 4 females had osteoporosis. According to Z-scores 2 males and 1 female had osteoporosis. Hip DXA T-scores revealed osteopenia in 6 males and 9 females, whereas T and Z-scores showed osteoporosis in 2 males and 3 females. Lumbar spine (LS) T-score diagnosed osteopenia in 9 males and 6 females, while T and Z-scores revealed osteoporosis in 3 males and females. In males, low T-scores were associated with decreased BMI; low LS DXA Z-scores with low vitamin-D levels; low T and Z-scores and LS-BMD with high VL. Conclusions. Evaluating bone quality in patients with a long history of HIV infection, multiple factors should be taken into account.