ACTA ENDOCRINOLOGICA (BUC)

Context. Studies of platelet function in diabetics are inconsistent, some studies reporting higher platelet reactivity, while others showed no change. Objective. We aimed to evaluate platelet indices and in vitro platelet aggregation in rats with long-lasting (28 weeks) diabetes mellitus. Design. Twelve controls and 14 diabetic rats were investigated. Diabetes was induced in 11-week-old rats using streptozotocin (60 mg/kg,i.p.). Platelet indices and in vitro adenosine diphosphate (ADP)-, protease-activated receptor 4 (PAR4) agonist-, and arachidonic acid (AA)-induced platelet aggregation were assessed at the age of 38 weeks. Results. Compared to controls, diabetic rats presented lower platelet count and plateletcrit (both p≤0.001), and higher mean platelet volume (p<0.01). ADP- (p=0.04) and AA-induced (p<0.01) platelet aggregation were lower in diabetic compared with control rats, whereas PAR4 agonistinduced platelet aggregation was similar between the two groups (p=1.00). Conclusions. This study demonstrates a paradox of high intrinsic platelet reactivity and low in vitro ADP- and AA-induced platelet aggregation in diabetic rats compared with non-diabetic controls. The relevance of in vitro platelet aggregation to the contribution of platelets to in vivo thromboembolic events in diabetic rats remains questionable.

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.

Objective. Highly active antiretroviral therapy (HAART) is involved in the potential pathogenic mechanisms linking thyroid autoimmunity with immune restoration. The objective is to emphasize the emergence of autoimmune thyroid disease in a HIV patient long period after restoration of immune competence, unlinked to the immune reconstitution inflammatory syndrome (IRIS) occurring shortly after HAART initiation. We report a case of acute autoimmune thyroiditis with thyrotoxicosis in a patient with stage C3 HIV infection, who had been under HAART for more than 7 years. From the beginning there was a good immune response to the regimen, due to a good adherence and compliance (over 90%). Nine months after HAART initiation the viral load was undetectable (under 34 copies/μL) and the CD4 count reached 645 cells/mm3 (within normal range) after one year of treatment. Eight years after HAART initiation, based on clinical and laboratory findings, autoimmune thyroiditis was diagnosed. At this time immune competence with a normal CD4 count and a CD4/CD8 ratio over 1 was achieved. The chronic inflammation status of an HIV infection is the reason that autoimmunity appears outside the IRIS period. Treatment was initiated with antithyroid drugs. Thyroid function should be monitored periodically in HIV patients undergoing HAART. Future observations must be made for HIV related thyroid disorders using new classifications and studies with a larger number of patients.

Intracranial germ cell tumors (GCT) are rare brain tumors that typically arise in the pineal or suprasellar regions. Germinomas are highly radiosensitive among pediatric CNS tumors. Suprasellar GCTs most commonly present with hypothalamic/ pituitary dysfunctions. We report a case of an 18 year old boy with particularly long term evolution from the onset of symptoms to the positive diagnosis of suprasellar germinoma. At 9 years he was diagnosed with idiopathic central diabetes insipidus and started DDAVP therapy. In the subsequent years he presented delay in longitudinal growth and delayed pubertal development. At 16 years he was referred to our institute with relatively good general condition despite an extremely severe hypernatremia of 186 mEq/L, serum osmolality of 405 mOsm/kg and impaired thirst sensation. He developed sinus thrombosis as a consequence of hyperosmolality and presented intermittent rises of temperature, but no septic episodes. During a long term follow neuroimaging eventually revealed a thickening of the pituitary stalk, mimicking as an infiltrative lesion. Finally, two supracentimetric tumor nodules were shown on contrast enhanced MRI in the suprasellar region and at the floor of the left lateral ventricle. Stereotactic biopsy concluded a pure germinoma, and craniospinal irradiation was performed. At present he has an infracentimetric suprasellar tumor remnant, reperfused sinus veins, optochiasmatic syndrome sequelae. He benefits from L-Thyroxin and testosterone replacement, and maintains hydro-electrolytic balance on DDAVP and controlled oral fluid intake.

There are no new national growth references for the Romanian population and the current recommendations for short stature evaluation is the use of the Swiss growth charts developed based on a longitudinal study. The aim of the present paper is to present the new synthetic growth references for Romanian children. Material and methods. We used local Romanian data from 9 studies with information on height and weight obtained between 1999 and 2016. Based on their plausibility and methodology six studies were selected for generating the National Synthetic Growth References for Romanian Children based on the specific methodology described previously. The selected studies included 8407 subjects measured in schools/kindergartens. Age is reported in years covering a range from 3-18 years. Height and weight were measured at a precision of 0.1 cm and 0.1 kg. All children were measured at normal temperature, in light clothes, without footwear. Results. We present the charts and tables with the common centiles for height, weight and body mass index for boys and girls. Conclusion. We suggest synthetic growth references based upon recent growth data from 6 different Romanian regions as new National Growth Charts for Romanian children.