ACTA ENDOCRINOLOGICA (BUC)

Context. Oxytocin has been investigated as a potential medication for psychiatric disorders. Objective and design. This study prospectively investigates correlations between oxytocin and other neuropeptides plasma levels in patients with autism spectrum disorders (ASD) according to severity and treatment, as compared to controls. Subjects and methods. Thirty-one children (6 neurotypical as control) participated in this study. The patients were classified into mildly and severely-affected, according to Autism Diagnostic Observation Schedule (ADOS) scores. Oxytocin, orexin A and B, α-MSH, β-endorphins, neurotensin and substance P were investigated using a quantitative multiplex assay or a competitive-ELISA method. Results. Plasma oxytocin levels differed between the groups (F (2, 24) =6.48, p=0.006, η2=0.35, observed power=86%): patients with the mild ASD had higher values of plasma oxytocin than those with the severe form (average difference=74.56±20.74pg/mL, p=0.004). Conclusions. These results show a negative correlation between plasma levels of oxytocin and the severity of ASD and support the involvement of oxytocinergic mechanisms in ASD.

Introduction. The recall rate in congenital hypothyroidism (CH) newborn screening programs depends on several factors such as primary screening strategy, sample collection guidelines, and cut-off. A recall rate of 0.05% is recommended but recall rates of 0.01-13% are reported worldwide. Objective. The aim of the study was to assess the recall rate in association with the age of the newborn at sample collection and with a lower cut-off. Design. This was a retrospective correlational study concerning TSH results in CH screening program. Subjects and methods. All newborns from a tertiary center in Targu Mures, Romania between 2013-2018 were included. Four groups were created and a correlation test between TSH median value and age in days was performed. The recall rate was calculated using three cut-off levels for 8182 TSH results performed in 2018. Results. 90% of the DBS were collected in days 3-5 after birth and 1/79 live births from this group had TSH above the lower cut-off used (10 mUI/L). 2% of the samples were collected in less than 48 hours after birth and 1/21 live birth from this group had TSH > 10 mUI/L. The recall rate in our center in 2018 was 0.08%, higher than the recommended rate of 0.05%. With the cut-off value recommended by the Health Ministry a 0.03% recall rate was obtained. Conclusions. Sample collection in less than 48 hours increases the recall rate in CH screening with TSH primary testing strategy. A lower cut-off raises the recall rate with a higher rate of false-positive cases (94.12%) but with 100% negative predictive value.

Context. Estimation of osteoporotic hip fracture incidence and Romanian FRAX model were based on nationally reported hospital ICD 10 coding admissions of all hip fractures (without a validation process). Objective. We aimed to calculate, based on individual hospital charts analysis, the incidence of osteoporotic hip fracture in the main urban area of Romania and compare it with data reported to the National Institute of Public Health (NIPH). Design. We retrospectively analyzed the charts of all patients (>40 years old) admitted for hip fracture in a 12-month period in hospitals with an Orthopedic Department in Bucharest and surrounding Ilfov County (11.8% of Romania population). Subjects and Methods. All ICD 10 fracture and event/fall codes were validated against the charts. We calculated the age and sex adjusted incidence of osteoporotic hip fracture and used the national reported hip fracture data base for comparison. Results. There were 2203 hip fractures of which 1997 (90.65%) were fragility fractures. The crude incidence of low-energy hip fractures was 171/100,000 (225/100,000 in women, 103/100,000 in men). The incidence rose with age to a maximum rate of 1902/100,000 in women >85 years. The NIPH-reported incidence of hip fracture was 181/100,000 for the region of interest and 176/100,000 at the national level. Conclusion. The incidence of osteoporotic hip fracture was lower than the incidence based on hip fractures reported codes in the national database, but the incidence of fragility fractures calculated by our group was higher than the incidence reported in previous national studies. Nationwide studies are warranted.

Primary bilateral adrenal lymphoma is a very rare cause of adrenal insufficiency. We report the case of a 63-year-old woman who presented with signs and symptoms of impending adrenal crisis when referred for evaluation of large bilateral adrenal masses diagnosed on a computed tomography scan two weeks prior. Based on a high clinical suspicion of adrenal insufficiency, patient was initiated on glucocorticoid and mineralocorticoid therapy prior to laboratory confirmation of adrenal insufficiency. After stabilizing the patient and excluding pheochromocytoma, we proceeded with adrenal biopsy that revealed a nongerminal center-type diffuse large B-cell lymphoma. Our patient was treated with R-CHOP chemotherapy, with good response after 3 cycles but eventually died after the fifth cycle from neurologic complications. This case highlights the notion that primary adrenal insufficiency should be considered in patients presenting with bilateral adrenal masses. Although primary adrenal lymphoma is a very rare adrenal malignancy it should be considered in patients presenting with bilateral rapidly growing adrenal tumors and primary adrenal insufficiency.

Genetics of cancer is a hot topic, an excellent example of translational medicine. Risk stratification, selection of cases for surgery in Bethesda categories 3 &4 FNAB are examples of the high impact of genetic evaluation in thyroid neoplasia.

An increased risk of non-Hodgkin?s lymphoma was found for a personal history of autoimmune conditions: rheumatoid arthritis, systemic lupus erythematosus, celiac disease, autoimmune hemolytic anemia, Crohn?s disease, psoriasis, sarcoidosis and thyroiditis. The associations may not be general but rather for specific non-Hodgkin?s lymphoma subtypes. These non-Hodgkin?s lymphoma subtypes develop during postantigen exposure stages of lymphocyte differentiation, consistent with a role of antigenic drive in autoimmunity-related lymphomagenesis. We present the case of a 30 years old mane, with simultaneous diagnosis of Graves? disease and a huge anterior mediastinal mass which was actually the mediastinal involvement of a diffuse large B-cell lymphoma stage III. The patient had also hypercalcemia, remitted after two courses of chemotherapy. The possible relationship between the two diseases and the role of parathyroid hormone related peptide PTHrP in paraneoplastic syndrome is discussed.

Diabetes is one of the most prevalent chronic disorders, associating numerous somatic and behavioral modifications. Oxytocin has been widely studied for its involvement in social behavior and psychiatric disorders. This pilot study presents a series of 3 patients with type 1 diabetes and diabetic neuropathy in which the values of plasma oxytocin, neurotensin, β-endorphins, α-MSH, substance P and orexin A were measured in comparison to 3 healthy controls with matching ages. In the diabetic patients group, there was a strong negative correlation between the value of plasma glucose and oxytocin (r=-0.99, p=0.04), respectively neurotensin (r=- 0.99, p=0.03). These values did not correlate in the control group. The results suggest that oxytocin, in conjunction with neurotensin, could be investigated as a potential early detection marker of diabetic neuropathy and, to our knowledge, this is the first report focusing on plasma oxytocin levels in patients with diabetic neuropathy.

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We report the case of a 24 years old male, diagnosed with severe pancytopenia, possibly myelodysplastic syndrome with ringed sideroblasts associated with immune thrombocytopenia, who presented with hyperthyroidism due to Graves’ disease. Standard antithyroid drugs were postponed for fear of exacerbation of cytopenia. Instead, steroid and immunoglobulin therapy gradually induced euthyroidism which was followed by correction of the hematological abnormalities. We review in this paper literature reports that discuss the association of thyrotoxicosis with pancytopenia, with reversibility of both the hematological and endocrine autoimmune picture after immunosuppressive treatment.