ACTA ENDOCRINOLOGICA (BUC)

Introduction. Leprechaunism is a rare autosomal recessive condition characterized by dysmorhic features, growth failure and disordered glucose homeostasis. Case report. A term infant was born to a first cousin, who previously lost a baby with Leprechaunism. Pregnancy and delivery were uneventful. Birth weight, length and head circumference were all below the third centile. Clinical examination at birth reveals large low set ears, depressed nasal bridge, gingival hyperplasia, prominent nipples, umbilical hernia, lipodystrophy, hypertrichosis, and wrinkled loose skin. Examination of the genitalia showed a prominent phallus, posterior fusion of the labioscrotal folds and no palpable gonads. A clinical diagnosis of Leprechaunism was made based on the family history and the clinical phenotype. In addition to the presence of ambiguous genitalia, management of this infant was complicated by poor glycemic control with frequent hyper and hypoglycemic episodes. Insulin was inappropriately high (1626.1 mU/mL, normal 3-17 Mu/mL) when glucose was relatively low (3.2 mmol/L) indicating insulin resistance. ACTH stimulation test confirmed an intact adrenal function with normal 17 hydroxyprogesterone and cortisol. Testosterone and adrenal androgens were normal. Chromosomal study showed 46 XX and MRI abdomen revealed normal pancreas and internal female organs. Accordingly, this infant was assigned as a female. Severe hyper and hypoglycemic episodes responded to introduction of frequent nasogastric formula milk feeding together with insulin glargine. Glycemic control improved with glycated hemoglobin of 8%. Conclusion. This case report illustrates a management challenge of a newborn infant with Leprechaunism, ambiguous genitalia and poor glycemic control and discuss treatment options.

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Background. Adiponectin, vaspin and leptin are only a few of these numerous adipocytokines. Little is known about the behavior of adipocytokines and how adipose tissue metabolism is affected in this Type 1 DM model. In this study we investigated the serum levels of adiponectin, leptin, vaspin in streptozotocin(STZ) induced diabetic rats. Material and methods. Twelve Spraque Dawley albino rats were included in the study. The animals were divided into two groups. The first group was diabetic (D) (n: 6) and 60mg / kg STZ was administered intraperitoneally (i.p.) to these rats. The second group was the non-diabetic control (ND) group (n: 6). All the animals were euthanized by cervical dislocation. Quantification of vaspin, Adiponectin, leptin in serum was performed using the ELISA kit. Results. Adiponectin, vaspin levels of diabetic group were found to be statistically lower than of control group (p<0.05). Leptin levels were significantly higher in the diabetic group (P<0.05). Conclusion. There is a need for new researches that can explain the relationship between Vaspin, Leptin and Adiponectin and Type 1 diabetes. New studies in this area will open new horizons for the identification of new biomarkers in the diagnosis and treatment of Type 1 diabetes.

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Objective. Estrogen receptor alpha (ESR1) polymorphisms (XbaI and PvuII) and vitamin D receptor (VDR) polymorphisms (FokI, BsmI, ApaI and TaqI) are the most frequently studied regarding the correlations with the infertility in males, but the results are controversial. The purpose of this study is to evaluate possible correlations between hormonal markers, VDR and ESR1 genotypes and semen analysis, in order to bring new data for a better understanding of male infertility. Subjects and Methods. 42 infertile men and 28 controls were enrolled. The polymorphisms of VDR gene (ApaI, TaqI, BsmI and FokI) and ESR1 (XbaI and PvuII) were performed by PCR-RFLP, along with hormonal markers. Results. An important correlation between PvuII polymorphism and infertility status was revealed. A significant difference between control and infertility group regarding the presence of BsmI (A>G) and ApaI (G>T) polymorphisms was observed in infertile group, prolactin and DHEA were found to correlate significantly statistic with BsmI GG genotype, whereas ApaI AA genotype correlates with prolactin and SHBG levels. Conclusions. By a multivariate analysis, we demonstrated a cumulative effect of some genetic variants in the hormonal status of infertile patients. Therefore, we show that specific genetic variants of ESR1 and VDR genes may jointly influence human spermatogenesis.

Context. Studies investigating the association between serum IGF-1, and thyroid nodule, ovarian or thyroid volume in polycystic ovarian syndrome (PCOS) are limited. Objective. We aimed to analyze the association between serum IGF-1 level, and ovarian or thyroid volume, or thyroid nodule in PCOS. Design. The study was performed between June 2017 and August 2019 as prospective design. Subjects and Methods. Adult females with newonset PCOS were included. The patients having comorbid illness, or using medication were excluded. Basic tests, thyroid and ovarian sonography were performed. The patients were grouped according to thyroid nodule(absent/ present) and ovarian volume (<10mL/≥10mL). We planned to find a positive association between IGF-1, and thyroid nodule, thyroid or ovarian volume in PCOS. Results. Of total 118 patients, 11(9%) had thyroid nodule. The patients with thyroid nodule had a higher ovarian volume (p=0.006). No correlation was found between GH or IGF-1, and thyroid or ovarian volume. IGF-1 was not a predictor for thyroid nodule or higher ovarian volume. Thyroid nodule was a significant predictor for higher ovarian volume. Conclusion. Our study is the first to analyze the association between IGF-1 and thyroid nodule in PCOS. We found that thyroid nodule was associated with thyroid and ovarian volume, but IGF-1 was not associated with thyroid nodule, thyroid or ovarian volume.

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Introduction. Our aim was to investigate the relationship between serum omentin-1 levels and endothelial dysfunction in obese patients. Material and Methods. We evaluated 50 obese patients, and age/gender matched 45 healthy non-obese subjects as controls. Oral glucose tolerance test, lipid parameters, uric acid levels, homeostatic model assessmentinsulin resistance (HOMA-IR) index, serum omentin-1 levels and flow mediated dilatation (FMD) % were measured in all subjects. Body compositions were analyzed with bioelectrical impedance method using a Tanita Body Composition Analyzer and ViScan. Results. Serum omentin–1 levels were found significantly lower in obese population compared to the control subjects. FMD response was significantly decreased in obese population. There was a significant positive correlation between serum omentin–1 levels and FMD response (r=0.359, p<0.001). Serum omentin–1 levels were negatively correlated with body mass index (BMI), waist circumference, total fat percentage, visceral fat, fasting insulin and HOMA-IR index. Conclusion. Lower serum omentin–1 levels and decreased FMD response may be an early marker of endothelial dysfunction in obese patients.

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Context. Coronary artery disease (CAD) is one of the common diseases in patients with type two diabetes mellitus (T2DM). The nuclear hormone receptor peroxisome proliferator-activated receptor-gamma (PPARγ) plays a vital role in dyslipidemia, and oxidative stress is involved in atherogenesis. Objective. The study aimed to determine the association between Pro12Ala polymorphism of the PPARγ2 gene(rs1801282) and CAD risk in T2DM patients in the Iranian population. Design. A group of 145 T2DM patients with a history of CAD were enrolled, together with 145 sex and gender-matched individuals who had neither CAD nor history of T2DM who were enrolled in a case-control study. Subjects and Methods. Polymerase chain reactionrestriction fragment length polymorphism technique was applied to genotype the PPARγ2 gene polymorphisms. Statistical analysis was done using SPSS version 22. Results. CC and GC genotypes of Pro12Ala had a higher frequency in the control and case groups, respectively. The GC genotype was associated with a significantly increased CAD risk compared to the CC genotype (adjusted OR= 2.66, 95% CI = 1.5-29.5, p<0.01). The mean triglycerides and total cholesterol level were significantly higher in the CC genotype than the GC genotype in both case and control groups (p<0.05). The mean level of fasting blood glucose was significantly higher in the CC genotype compared to GC genotype in the case group (p<0.05). The mean of creatinine, lipid profiles, microalbuminuria, and hemoglobin A1c had no significant difference between CC and GC genotypes in both groups (p>0.05). Conclusion. PPARγ2 Pro12Ala polymorphism could be an essential indicator for the increased risk of CAD in the Iranian people with T2DM.