ACTA ENDOCRINOLOGICA (BUC)

Context. Increased arterial stiffness is an independent risk factor of cardiovascular events in patients with diabetes mellitus (DM). Objective. We aimed to evaluate elastic properties of common carotid arteries (CCA) in patients with DM type 1 (T1DM) by means of ultrasonographically based technique – two-dimensional speckle tracking. Design. Case-control observational study. Subjects and Methods. Examination of both CCA was performed in 50 patients with T1DM. The mean age of patients was 36.1 (±11.9) years and duration of diabetes was 8.9 (±11.9) years. 28 controls (mean age 38.6 ± 10.8) were examined according to the same protocol. Strain and strain rate reflected arterial wall stiffness and intimamedia complex thickness (IMCT) indicate presence of morphological changes. Parameters were compared between groups and regression analysis was performed to predict determinants of evaluated parameters. Results. Patients with T1DM had significantly more elastic CCA arteries than the healthy control (mean strain [%]: 6.05 ± 2.55 vs. 5.19 ± 1.79, p=0.0295; mean strain rate [1/s]: 0.91 ± 0.33 vs. 0.78 ± 0.25, p= 0.0142; respectively), but no significant differences in IMCT were revealed (0.49mm ± 0.12mm vs. 0.49mm ± 0.10mm, p=0.9893; respectively). Women had significantly decreased strain parameters in comparison with men, although the difference in IMCT was not significant. Conclusions. Two-dimensional speckle tracing revealed increased elasticity of CCA in patients with T1DM with no deterioration of arterial wall.

21-hydroxylase deficiency is with 90% the most frequent cause of congenital adrenal hyperplasia and is due to an inborn enzymatic defect of adrenal steroidogenesis inherited in an autosomal recessive manner. Here we report on the mutational spectrum of Romanian patients with classic\r\n21-hydroxylase deficiency and describe differences to other surrounding or Latin countries. The overall genotype-phenotype correlation was 87.8%. A new mutation P94L has been identified in a subgroup of patients with 11-?-hydroxylase deficiency. Furthermore, we address the issues of early alterations in bone mineral density and metabolism as well as early discrete alterations in lipid and carbohydrate metabolism with enhancement of the atherogenic small dense LDL-subfraction and emerging insulin resistance. The relationship of these discrete changes to treatment variables such as the mean and cumulative hydrocortisone dose stress once more the importance of an optimal glucocorticoid treatment with the lowest effective individual doses, to preclude the achievement of a suboptimal peak bone mass as well as the early appearance of traits of the metabolic syndrome.

Context. We aimed to examine the factors affecting adverse gestational outcome in gestational diabetes (GDM) patients, who were grouped as obese and normal- weight, having only-diet, or insulin treatments. Subjects and Methods. The study included 373 patients, treated with diet or insulin. These patients were sub-grouped as obese and non-obese, and examined retrospectively. The variables affecting adverse gestational outcome in obese GDM patients having dietary and/ or insulin treatments were detected with multiple regression analysis. Results. The weight gained during pregnancy in the GDM group having insulin treatment was more than the one in only-diet treated GDM group (p=0.004). Pre-pregnancy body mass index, the weight gained during pregnancy, hemoglobin A1C levels in the second and third trimesters, caesarian rates were higher in the insulin-treated obese patients than in the other groups (p<0.001). The odds ratio for fasting blood glucose level in insulin-treated obese GDM group was 1.081 (95% CI =1.004 - 1.163) (p=0.039); and it was 0.982 (95% CI =0.924 - 1.002) (p=0.048) for the weight gained during pregnancy, in only-diet treated obese GDM patients. Conclusion. The control of weight gained during pregnancy, and of fasting blood glucose levels in obese patients having GDM, is important to decrease adverse gestational outcome.

Introduction. The Antley-Bixler syndrome (ABS) is an extremely rare syndrome characterized by congenital\r\ncraniosynostosis and radiohumeral synostosis. Many patients demonstrate defects in steroidogenesis and disturbances\r\nof sexual development.\r\nAim: To present the first documented case of a Romanian patient with ABS.\r\nMaterial and Methods. Alexandru, a 3 year old child, was referred to our department for elucidating a complex\r\nmalformative syndrome that consisted of ambiguous genitalia and skeletal anomalies. We performed a complete assessment that ranged from obtaining a detailed medical history to gene sequencing. The hospital?s Ethical Committy gave\r\nthe authors its approval for using the medical data concerning the case, after the parents signed an informed consent.\r\nResults. Medical history. We note 4 previous admissions to our hospital during which efforts were made to diagnose the\r\nchild?s disorder of sexual development. At 3 months Edwards syndrome was suspected, which was later infirmed. During the third and fourth admission (8 months, 10 months respectively) the suspicion of congenital adrenal hyperplasia (CAH) was raised and then confirmed (impaired steroidogenesis, 46 XX karyotype). The patient was lost to\r\nfollow-up since then, probably due to the parents? inability to cope with the implications of their child?s condition.

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Context. Children having gonadal tumors and disorder of sex differentiation (DSD) are rare. Objective. To investigate the presentation of DSD children with malignant gonadal tumors. Methods. A retrospective study from 2010- 2020, that evaluated 17 children with DSD, including 13 females, eight months to 16 years, with congenital adrenal hyperplasia, 5-alpha reductase deficiency, androgen insensitivity syndrome, Turner, Sywer, and Klinefelter syndromes. Results. Ten children had malignant gonadal tumor; nine had germ cell tumors and one person granulosa cell tumors, while seven children with non-malignant tumor had gonadoblastoma, cystadenoma (five children), and cysts. Systemic malformations, obesity, elevated tumor markers, and psychosocial issues were observed in 90%, 90%, 70%, and 50% of children with malignancy unlike 28.6%, 42.9%, 14.35%, and 57.1% children without malignancy respectively. Most (9/10) children >12 years, had psychosocial issues, unlike 0/7 children ≤12 years. From 8/17 children presenting with symptoms suggestive of tumor, 75% had malignancy, while from 9/17 children with DSD presentation, 44% had malignant tumors. Malignancy was observed in 3/10 children between eight months to age six, while 7/10 children had stage 1-2 tumors. We reported a child, identified as female, aged 13 years, with partial androgen insensivity syndrome (PAIS) 46,XY, and testicular papillary serous cystadenoma with genomic variant AR NM_000044.4:c.2750del. p.(F917Sfs*27) chromosome Xq12, never published in people with PAIS nor population databases (GnomAD). Conclusion. DSD diagnosis raises numerous challenges. People with DSD have increased risk of malignancy, especially when obesity and, systemic malformations are present; also, psychosocial issues in these children are associated with postpubertal age.

Objective. Hyperandrogenism is any clinical or laboratory evidence of androgen excess in women. This study was conducted to assess the prevalence of hyperandrogenic disorders especially polycystic ovary syndrome in a random sample of adolescent girls, as well as to identify the clinical, hormonal, ultrasonic, and body composition characteristics associated with such disorders. Patients and Methods. Two hundred school girls (15-18 years old) were selected by random sampling from different secondary schools, and screened for hyperandrogenic disorders by a validated questionnaire and subjected to thorough confirmatory investigations. Results. Twenty-five out of the 200 students were thoroughly evaluated. Eighteen adolescents of the examined students (72%) were finally diagnosed with polycystic ovary syndrome, 5 (20%) with idiopathic hyperandrogenism and 2 (8%) with non-classic congenital adrenal hyperplasia . Despite normal weight percentiles and body mass index for age and sex in 83.3% and 88.9% of students with polycystic ovary syndrome respectively, fat mass, trunk fat percentage, trunk fat mass, and trunk free fat were significantly higher in polycystic ovary syndrome patients compared to controls. Conclusions. Polycystic ovary syndrome was the most common hyperandrogenic disorder in this study. Combined menstrual dysfunction and clinical hyperandrogenism had adequate sensitivity and high specificity in the prediction of polycystic ovary syndrome. Pulse inversion harmonic imaging is an adequately sensitive preferential diagnostic tool of polycystic ovary syndrome in virgin adolescents who may have central adiposity. Body composition assessment by bioelectrical impedence is valuable in detecting central adiposity which could be correlated to parameters of insulin resistance.

Background. Thyroid nodules are a common pathology worldwide. Fine needle aspiration biopsy (FNAB) is an important diagnostic method for the investigation of malignancy in thyroid nodules. However, according to the Bethesda System used to classify the results, patients with atypia of undetermined significance/follicular lesion of undetermined significance (AUS / FLUS) may not be classified as benign or malignant. Therefore, it may be necessary to determine some clinical risk factors to apply the best treatment in these patients. Aim. To determine the factors that increase the risk of malignancy in this patient group. Methods. A retrospective study including 138 patients with an FNAB categorized as AUS/FLUS and operated between June 2015–September 2018. Demographical, Laboratory (TSH) and Ultrasound variables (number, size and characteristics of nodules) of the patients were compared among postoperative histopathological results. Results. Hypo-echoic structure, microcalcification and irregular margin of the nodules were detected to be associated with malignancy in patients with FNAB results of AUS/FLUS (p <0.001). Conclusion. We suggest that surgical treatment should be considered if the patients have nodules with the hypo-echoic structure, microcalcification and irregular margin with an FNAB histopathological result of AUS / FLUS.

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Context. Accumulating data supports the key role of disrupted amino acids (AAs) metabolism in diabetes. Conflicting data regarding the relevance of serum AAs in diabetes and hypertension suggest that their relationship needs further investigation. Objective. To investigate serum AAs as biomarkers of increased BP variability evaluated during 24-hour ambulatory BP monitoring in the presence of type 2 diabetes. Design. Cross-sectional. Subjects and Methods. We analyzed serum AAs using targeted metabolomics (ultrahigh-performance liquid chromatography/mass spectrometry) in patients with type 2 diabetes (n=80). BP variability was assessed using 24-hour ambulatory BP monitoring. Participants were divided into two groups based on the 24-hour diastolic BP variability median value. Results. Aspartic acid, isoleucine, leucine, and phenylalanine were significantly lower, while glutamine was significantly higher in the group with higher diastolic BP variability (p-value <0.05 and variable importance in the projection >1). Corresponding pathways identified as disrupted in patients with diabetes and a higher 24-hour diastolic BP variability were phenylalanine, tyrosine, and tryptophan biosynthesis, phenylalanine metabolism, and alanine, aspartate, and glutamate metabolism (pathway impact value >0). Conclusions. We identified specific changes in serum AAs and target AAs pathways in relation to increased 24-hour diastolic BP variability in patients with type 2 diabetes.