ACTA ENDOCRINOLOGICA (BUC)

Reninoma (juxtaglomerular cell tumor) is a rare cause of renin-mediated hypertension. We reported a 18 year old woman with history of hypertension for 3 years. Laboratory findings showed severe hypokalemia and markedly increased levels of renin and aldosterone. Kidney ultrasonography, abdominal computed tomography and magnetic resonance imaging revealed a small mass in the middle region of the right kidney. The patient underwent nephron-sparing surgery; immunohistochemical results demonstrated typical features of reninoma. Postoperatively, blood pressure and potassium levels were normal at 1 month follow-up.

Context. The gastrointestinal tract is one of the most affected systems in hyperthyroidism. Although thyrotoxicosis is thought to be associated with gastrointestinal dysmotility, there are limited studies focused on motility disorders in hyperthyroidism. Objectives. We aimed to investigate the manometric measurements to determine if esophageal motility is affected in Graves’ disease. Materials and Methods. Thirty patients with Graves’ disease (18 female and 12 male) and 30, age and sex matched, healthy controls (22 female and 8 male) were recruited to the study between 2015 and 2016. Esophageal manometry was performed using MMS (Medical Measurement Systems bv. The Netherlands) Solar GI – Air Charged Intelligent Gastrointestinal Conventional Manometry. Results. The mean lower esophageal sphincter pressure (LESP) was 16.9 ± 5.3 mmHg in hyperthyroid patients and 20.1 ± 8.8 mmHg in the control group and there was no significant difference (p>0.05). It was observed that the duration of contraction was 3.9 ± 0.7 s in healthy subjects and, significantly shorter 3.2 ± 0.5 s in hyperthyroid patients (p<0.001). Duration of contraction was negatively correlated with TSH receptor Ab titer in patients (p=0.006, r= -0.48). Also, it was observed that the duration of relaxation was negatively correlated with fT4 levels in the patient group (p<0.05, r= -0.46). Conclusion. In this study, we observed that esophageal motility can be affected via shortened duration of contraction in Graves’ disease. The gastrointestinal symptoms due to possible motility dysfunctions should be considered in the evaluation of hyperthyroid patients.

Background. Elevated serum transforming growth factor-β (TGF-β) is associated with diabetes, cancers and several other diseases in numerous studies. However, there are a few studies reporting the possible relationship between serum TGF-β and obesity indices in apparently healthy individuals. In the present study we examined the possible relationship between body mass index (BMI), fasting serum glucose, lipid profile and liver enzymes in healthy women. Materials and methods. A total of 84 women (BMI 30.12 ± 5.74 kg/m2) were investigated. Anthropometric variables (weight, height, waist circumference and hip circumference) were measured in participants and BMI and waist to hip ratio (WHR) were calculated. Serum concentrations of TGF-β, fasting serum glucose (FSG), serum lipids and liver enzymes were assayed by commercial Enzyme-linked immunosorbent assay (ELISA) kits. Results. Among anthropometric variables, BMI and WC were potent positive predictors of serum TGF-β in stepwise multiple linear regression model (P<0.05). Serum ALT concentration was also positively correlated with serum TGF-β after adjustment for age and other biochemical variables (P = 0.031). In simple correlation analysis, serum TGF-β was positively associated with fat mass and negatively with fat free mass (P < 0.05). Conclusions. Our study confirms that serum TGF-β concentration is associated with indices of both general (BMI) and central obesity (WC), fat mass and liver enzyme in healthy Iranian women. Further studies are needed to possibly confirm these findings and to explore underlying mechanisms.

Introduction. Primary bilateral macronodular adrenal hyperplasia (PBMAH) is one of the uncommon causes of endogenous Cushing’s syndrome (CS). Pheochromocytoma (PCC) is another adrenal tumor which is derived from neural crest arising in the adrenal medulla. Here we are reporting a case with recurrent overt CS due to PBMAH, 2 years after unilateral adrenalectomy, concomitant with recently developed PCC. Case Presentation. A 43-year-old woman was admitted to our clinic with a 30 kg weight gain, proximal muscle weakness, menstrual irregularity, easy bruising and excessive hair growth on face and body.The lab results were compatible with a diagnosis of solely ACTH-independent CS. Screening showed bilateral macronodular lesions and she underwent right adrenalectomy. Postoperatively, she had lost weight and her well-being had improved; 2 years later, she developed CS and paroxysmal hypertension. The left adrenal gland was laparoscopically removed. Histopatologically, the lesion was reported as a typical PCC and macronodularmicronodular hyperplasia of the adrenal tissue surrounding that lesion. Conclusions. Pheochromocytoma with synchronous ACTH-independent CS originating from the same adrenal gland is very rare. To the best of our knowledge,our case is the first one describing the coexistence of overt ACTHindependent CS due to PBMAH and metachronous PCC. The importance of detailed re-evaluation of patients with recurrent ACTH-independent CS is highlighted here.

Cushing syndrome in the paediatric age group is very difficult to diagnose due to atypical presenting features in children. Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of ACTH-independent Cushing syndrome in children and it has characteristic gross and microscopic pathologic features. We report a case of PPNAD in a 16-year-old boy who was evaluated in our hospital with chief complaints of poor height velocity and rapid weight gain for 2-3 years before presentation. Proper evaluation showed ACTH-independent Cushing syndrome with normal imaging. Total bilateral adrenalectomy was performed followed by hormones replacement. 6 months after surgery, significant acceleration of height velocity was noticed. Patient also lost body weight and developed secondary sexual characteristics.

Genome Wide Association Studies (GWAS) are excellent opportunities to define culprit genes in complex disorders such as the polycystic ovary syndrome (PCOS). PCOS is a prevalent disorder characterized by anovulation, hyperandrogenism and polycystic ovaries, which benefitted from several GWASs in Asians and Europeans revealing more than 20 potential culprit genes near associated single nucleotide variations (SNV). Translation of these findings into the clinical practice raises difficulties since positive hits are surrogate SNVs linked with causative mutations by linkage disequilibrium (LD). Studies in Mediterranean populations (e.g. Southern Europe and North Africa) raise supplementary problems because of a different LD-pattern, which may disrupt the link with causative mutations. Our experience in MEDIGENE program between Tunisia and France enforces the necessity of genetic anthropology studies before translating GWAS data. Tunisians are a heterogeneous population with ancestral Berbers, European, Arab and Sub-Saharan African components while South Europeans display a high level of genetic diversity, partially explained by gene flow from North Africa. Human diversity studies require sampling from Middle East and North Africa (MENA) region that will help to understand genetic factors in complex diseases.

Acromegaly is associated with increased mortality and decreased life expectancy. Cardiovascular disease is the principal cause of premature mortality in patients with acromegaly, accounting for about 60% of deaths. GH and/or IGF-I exert direct cardiac effects: enhance cardiac contractility, stimulate cardiomyocyte growth, influence calcium influx in cardiomyocytes. Cardiac remodelling is influenced by hypertension and insulin resistance. Among cardiovascular risk factors arterial hypertension, reported in 35% of patients with acromegaly, ranks among most important negative prognostic factors for mortality. Hypertension plays significant role in the development of cardiac hypertrophy, especially in older acromegalic patients and diastolic blood pressure is best predictive factor for cardiac hypertrophy. Therefore, early and aggressive hypertension treatment is essential for prognosis in acromegaly. Other important risk factors are: valvular defects, arrhythmias, endothelial dysfunction, heart failure, lipid abnormalities and coronary artery disease. Numerous studies suggest that patients with acromegaly are under threat of arrhythmias, especially those with structural heart abnormalities. Congestive heart failure as end-stage acromegalic cardiomyopathy occurs usually in older patients, with long-term uncontrolled disease and other cardiovascular and metabolic complications. Relation between acromegaly and coronary artery disease is controversial as it seems to be connected rather with classical cardiovascular risk factors than GH and IGF-1 overexpresion.

Smith-Lemli-Opitz syndrome is an autosomal recessive disorder caused by mutations of 3-hydroxysterol &#8211;7reductase gene (DHCR7) which maps to 11q12-13 and was the first discovered defect in cholesterol biosynthesis resulting in a congenital dysmorphology syndrome. We present the case of a 46,XY newborn with ambiguous genitalia and multiple congenital anomalies (atrial septal defect, ventricular septal defect, syndactyly of the second and third toe, cleft palate, webbed neck, small fontanels, mesomelia, simian palmar crease, micrognathia, wide nasal bridge with anteverted nostrils, low set ears). Hormonal assessment performed at twelve days revealed a decreased testosterone level (0.03 ng/mL), a high estradiol level (448.8 pg/mL), normal LH (2.8UI/mL), DHEAS (86.61?g/dL), progesterone (1.34ng/mL) and 17 hydroxyprogesterone (1.08ng/mL) levels. Cholesterol was low (44mg/dL) confirming the diagnostic of Smith-Lemli-Opitz syndrome.

Recent studies indicate a relatively high prevalence of hypogonadism with low gonadotropin levels, in adult male patients with type 2 diabetes (T2DM).\r\nObjective.In this study we investigate the possibility of a predisposition to hypogonadism and its relationship with\r\ninsulin resistance and leptin levels in adolescent and young males with one or both diabetic parents.\r\nDesign. It was a cross-sectional study conducted on male subjects between 15-25 y of age.\r\nSubjects & Methods. Groups of subjects with one diabetic parent (n=30) and with both diabetic parents (n=30) were\r\ncompared with an equal number of age matched offspring of healthy non diabetic parents (n=30). Fasting blood glucose,\r\nserum insulin, leptin, FSH, LH and testosterone were measured.\r\nResults. Mean fasting insulin, and insulin resistance as assessed by HOMA-IR, were significantly higher (p<0.05) in offspring of both diabetic parents and mean serum leptin\r\nlevels were significantly higher (p<0.001) in both groups of offspring of diabetic parents compared to that of the control group. Whereas serum testosterone concentrations\r\n(p<0.05) were lower in both groups of offspring with diabetic parents, serum LH was higher (p<0.05) in offspring of both diabetic parents, as compared to control group. Also, serum testosterone levels were shown to be inversely related to serum leptin in subjects with both diabetic parents.\r\nConclusion.The present study suggests evidence of hypoandrogenesis in subjects with a family history of T2DM and the possibility of a direct effect of factors such as\r\nhyperleptinemia and hyperinsulinemia on androgenesis at an early age, independent of changes in pituitary function.