ACTA ENDOCRINOLOGICA (BUC)

Aim. The aim of our study was to investigate the effect of pioglitazone on glycemic and blood pressure control, on inflammation markers in diabetic patients.\r\nPatients and methods. Forty-nine diabetic patients who had been followed up as outpatients for 2.7 years and HbA1c was >7% were included in the study. The patients had never received thiazolidinedione therapy before. Clinical, metabolic variables, high-sensitive Creactive protein (hsCRP), homocysteine (HCY) and asymmetric dimethylarginine (ADMA) levels were measured. 30 mg pioglitazone were administered. The patients were followed up for six months and all the measurements were re-evaluated for comparison.\r\nResults. Body mass index (BMI) significantly increased after treatment. Fasting glucose, HbA1c and HsCRP were decreased. Insulin resistance was improved and HOMA-IR index was decreased after pioglitazone treatment [8 (?6.5) vs 4(?3.1); p<0.0001]. Pioglitazone improved lipid metabolism. Mean total cholesterol and LDL cholesterol levels were decreased and HDL cholesterol was increased after treatment. The decrease in triglyceride and homocysteine levels did not reach significance. Mean ADMA level did not change after therapy [0.62 (?0.39) vs 0.61 (?0.44); p=0.85].\r\nConclusion. Pioglitazone treatment in type 2 DM produced significant improvements in measures of glycemic control, plasma lipids, blood pressure and homocysteine levels. Pioglitazone had no influence on ADMA levels.

Abstract Introduction. Turner syndrome, a genetic disorder with an exclusively feminine phenotype, is caused by complete or partial X monosomy in some or all cells. Although the condition is usually diagnosed after birth, now, it is possible to detect the syndrome prenatally. Case reports. We present two cases of Turner syndrome diagnosed during the first trimester of pregnancy. The condition was suspected because of several ultrasound signs and was confirmed in both cases after an invasive prenatal technique. In one case, the fluorescent in situ hybridization technique was applied. In the other case, the chromosomal anomaly was detected using the G banding technique. Threedimensional ultrasound and HDlive technology were extremely useful in helping the patients to better understand the fetal pathology and accept an invasive procedure as a final step in establishing the diagnosis. Conclusion. These cases demonstrate the importance of using ultrasound as a screening method to detect suspected cases of Turner syndrome, however, the disorder needs to be confirmed with chromosomal analysis after performing an invasive prenatal technique.

Turner syndrome (TS) is the most common form of chromosomal hypogonadism in women. Clinical features are correlated with the haploinsufficiency of X genes which produces a precocious ovarian degenerescence, sexual hormones secretion deficiency and primary sterility. The review of medical literature reported 87 patients with different cytogenetic form of TS that have 185 pregnancies. In 45,X/46,XX women were described 61 pregnancies in 32 patients. In X homogeneous monosomy were described 43 pregnancies in 21 patients followed by X trisomy mosaicism which was identified in 9 women with 45,X/47,XXX formula (20 pregnancies) and at 11 patients was described 45,X/46,XX/47,XXX formula (35 pregnancies). An increased risk for abnormal pregnancies was proved by frequent miscarriages: 30 cases in 45,X/46,XX, followed by 16 in 45,X/46,XX/47,XXX and 13 in X homogeneous monosomy. Other possible gestational complications in patients with TS could be: dissection of aorta, endocrine diseases (diabetes mellitus, hypothyroidism), arterial hypertension and eclampsia, dystocia. The spontaneous menarche and pregnancy in TS patients are rare events, and usually the gestation is marked by obstetrical complications. The patients with 45,X/46,XX chromosomal formula have the highest risk for chromosomal abnormality in foetus and for miscarriage. The worst prognosis was cited for TS patients with partial X monosomy.

Prader Willi syndrome is a complex disease caused by the lack of expression of paternally inherited imprinted genes on chromosome 15q11.2-q13. Typical clinical features are hypotonia and feeding difficulties in infancy, followed by hyperphagia and progressive obesity, distinctive dysmorphic features, intellectual disability and behavioural problems. In this paper we present clinical, metabolic and endocrine aspects in five genetically confirmed patients with PWS. Data about thyroid dysfunction, GH deficiency, adrenal insufficiency, and LH/FSH disorder caused by hypothalamic dysfunction in PWS were collected and analyzed. Cardiovascular metabolic profile was also assessed, based on plasma lipids, blood glucose, HbA1c values, and measurements of body weight and blood pressure. Clinical features present in all our patients were marked hypotonia and feeding difficulties in infancy, obesity, dysmorphic face, viscous saliva, small hands and feet, intellectual disability and characteristic behaviour. Adrenal function appeared to be normal in all patients; mild hypothyroidism was identified in one patient; sex development abnormalities were present in three patients and GH levels were within lower normal range in all patients. GH therapy was initiated in two patients, both with unevolutive skeletal anomalies, with good results and no side-effects. Only one patient had a normal lipid profile, underlying the importance of early detection and treatment of cardiovascular risk factors. Our study also illustrates the challenges raised by some features very rarely described in PWS (Blount disease and multiple allergies).