ACTA ENDOCRINOLOGICA (BUC)

Background. The present study aims to evaluate the parameters for aortic stiffness by comparing gestational diabetes mellitus (GDM) with a healthy control group via transthoracic echocardiography. Methods. This was a cross-sectional study involving monitoring of 62 pregnant women (33 with GDM and 29 with uncomplicated pregnancy as controls) during the third trimester. The aortic strain, aortic distensibility, and aortic stiffness values were measured via transthoracic echocardiography. Measurements of GDM group were repeated after 6 months. Results. Blood pressure levels, heart rate, and basic echocardiography were similar in both groups, but BMI was significantly higher in the GDM group (p <0.001). Whereas, aortic strain and distensibility were significantly lower in the GDM group (p <0.001). Aortic stiffness index was significantly higher in the GDM group (p <0.001). Aortic stiffness parameters did not exhibit any significant difference between the insulin-receiving GDM group and the diet-controlled GDM group. Postprandial glucose levels were correlated positively with the aortic stiffness index (p=0.04) and negatively with the level of aortic strain (p<0.01) and distensibility (p=0.03). The aortic stiffness in normoglycemic postpartum group at 6th month showed a significant improvement (p<0.001); but not in hyperglycemic postpartum group. Conclusion. Arterial stiffness was increased in women with GDM compared to the control group. A correlation between postprandial glucose and arterial stiffness was found. The aortic stiffness can be affected irreversibly from increased clinical and subclinical levels of glucose in postpartum period.

Neurofibromatosis type 1 (NF-1) is an autosomal dominant inherited syndrome affecting 1 per 3000-4000 individuals. Patients with the neurofibromin gene mutation are more likely to develop malignancies. We report the case of a 57-year-old female with NF-1 who presented during her lifetime three neoplasms: endometrial cancer, adrenocortical carcinoma (ACC) and gastrointestinal stromal tumor (GIST). We describe the clinical, radiological and histopathological features of this rare condition. There have been reported only 10 cases of ACC together with NF-1 and 18 cases of ACC with other tumors. To the best of our knowledge it is the first reported case of NF-1 diagnosed with three cancers. Our report indicates the importance of careful and all-embracing care of patients with NF-1 in order to make a thorough investigation of any symptoms that might be a manifestation of a malignant disease.

This editorial discusses the context of thediscovery of GNRH 1 as a cause of congenital hypogonadotropic hypogonadism published last year by Bouligand et al in the New England Journal of Medicine

Introduction. Neuroendocrine renal carcinoma represents less than 1% of all primary neoplasia of the kidney. Most frequently poorly differentiated carcinoma is diagnosed in advanced stages and they have an aggressive evolution and limited survival rate. Neuroendocrine carcinomas that arise from the renal pelvis are frequently associated with squamous cell carcinoma or adenocarcinoma. Material and method. We present the case of a female patient, known for 3 years before with an undefined retroperitoneal lymph node metastasis, being diagnosed at present with a left large cell neuroendocrine renal carcinoma, who initially had lymph node metastasis. Results. Until now, 118 cases of primary neuroendocrine renal carcinomas have been reported. A limited number of poorly differentiated neuroendocrine carcinomas have been reported. Discussion. Due to the clinical and biological findings, the aggressive evolution with early metastasis of lung and bone, the patient is included in the group of poorly differentiated carcinomas. In these cases, multimodal treatment is a gold standard. After surgical treatment and palliative chemotherapy with platinum salts, we obtained a partial remission of the disease and the control of symptoms. Conclusions. Regarding large cell neuroendocrine carcinoma, the surgical treatment remains the treatment of choice. Chemotherapy can determine limited results, improve the quality of life and enhance the overall survival rate.

Context. The dominant type of adipose tissue accumulation in the body is associated with the peculiarities of using key substrates in energy metabolism and their hormonal regulation. Hormonal and metabolic parameters were investigated in women with android and gynoid obesity before and after the short-term food deprivation test. Results. At baseline, at gynoid obesity as compared to android obesity, the women’s blood contained lower glucose and insulin levels and higher FFA levels. The reaction to food deprivation manifested by a decrease in glucose level and an increase in FFA level in the blood is less pronounced in women with gynoid obesity than in those with android obesity. At the same time, a similar (though varying in expression) decrease in insulin level and elevated levels of glucagon, growth hormone and thyroxine were revealed in women’s blood in both groups. Blood cortisol level increased in women with gynoid obesity and remained unchanged in those with android obesity. Conclusions. More pronounced activation of hormonal mechanisms for maintaining blood glucose levels at gynoid obesity as compared to android one suggests that glucose is the preferable substrate for energy metabolism at gynoid obesity in women.

Context. Epilepsy and osteoporosis are closely related. The detrimental effect on bone by older generation of antiepileptic drugs (AEDs) is well known, but newer AEDs can also cause a decline in bone health. Objective. To provide a review on the impact of AEDs on bone mineral density, fractures and bone turnover markers and to analyze the effect of bone active treatments in epileptic patients. Methods. Medline (PubMed) and EMBASE were searched for studies about AEDs and bone health. The PRISMA statement was used. Results. Chronic use of AEDs is associated with alterations in bone metabolism, low bone mineral density values, and increased risk of fractures. These effects appear to be more associated to the use of enzyme-inducing AEDs. Supplements with vitamin D and bone active treatments may have benefits in terms of bone mineral density gain and of mortality risk. More studies are required to determine the impact of non-enzyme-inducing AEDs on bone health and to gather useful information about the management of osteoporosis therapy in epileptic patients. Conclusion. Chronic AED use has a significant impact on bone health; it is therefore necessary to evaluate in such individuals the claim to vitamin D and calcium supplements and bone active treatments.

Context. Mutations in the androgen receptor (AR) gene result in androgen insensitivity syndrome (AIS). In milder forms of AIS, male infertility appears as primary or even sole symptom. Identification of such mutations is fundamental for accurate diagnosis and for appropriate genetic counseling.\r\nObjectives. To determine the prevalence of known point mutations in the AR gene causing male infertility in Syrian\r\nazoospermic men.\r\nDesign. 15 known point mutations in the AR gene were screened in a cohort of 110 Syrian infertile men.\r\nSubjects and methods. The study involved 173 Syrian infertile men suffering from non-obstructive azoospermia.\r\nChromosome aberrations and Y microdeletions were excluded in 110 patients, which were further tested for point mutations in the AR gene by real time PCR or DNA sequencing.\r\nResults. The prevalence of AR mutations in our cohort was 3.6% (4/110). We found two patients with the Ala474Val\r\nmutation and one patient bearing the Pro390Ser mutation. Furthermore, one patient had a new mutation, del 57Leu,\r\ndescribed for the first time in an infertile man. None of the 50 fertile Syrian men had this mutation, indicating that it is not a sequence polymorphism in the Syrian population.\r\nConclusion. The del 57Leu mutation in the AR gene is a possible cause of idiopathic male infertility. Furthermore, the Ala474Val and Pro390Ser mutations (previously found in several infertile men in Italy) might be significant markers for male infertility in Mediterranean populations.

Adrenoleukodystrophy (ALD) is a hereditary metabolic disease X-linked (Xq28) with autosomal recessive traits, secondary to a mutation in the ABCD1 gene. The case of a boy aged 7 years and 10 months admitted for vision disturbances, muscle weakness, balance disturbances and spastic paraparesis is presented. Seventeen months prior to this admission, the child was diagnosed with acute adrenal insufficiency and was still on replacement therapy with dexamethasone and fludrocortisone. While on therapy the child presented several relapses that required treatment correction. MRI revealed cerebral atrophy lesions, which, together with the laboratory findings and clinical symptoms, conducted the diagnosis of ALD. This diagnosis was also supported by the pathogenic mutation detected in the ACBD1 gene identified in the pacient and patient?s mother and sister. The child died 8 months after the onset of neurological signs. Childhood ALD is classified as classical ALD form, the most frequent, affecting only boys aged 4 to 10 years. Family screening obliged by the identification of the homozygotes is helpful for the early therapy of heterozygotes, genetic counseling and disease prevention. The prognosis is still poor, the available treatment being hormone substitution therapy and psychological support.