ACTA ENDOCRINOLOGICA (BUC)

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.

Gangliocytomas are extremely rare tumors, accounting for 0.1-0.5% of all brain tumors. We present a 25 years old woman with several characteristics of restrictive anorexia nervosa in association with a gangliocytoma of pineal region. The patient has been diagnosed with hydrocephalus shortly after birth. A ventriculoperitoneal shunt was initially inserted. At the age of 19 she underwent 2 consecutive occipital craniotomies for a well-defined large mass in the pineal region. Histopathological examination of this tumor revealed a gangliocytoma. Our patient began to reduce her food intake due to the concept that ”the tumor must not be fed”. After an almost 30 kg weight loss over 5 years, the patient weighs 39 kg at 165 cm height (BMI 14.3 kg/sqm), associated with a 1 year history of secondary amenorrhea and a tumor remnant of 4 cm. The weight loss, amenorrhea and some other psychosocial traits are common for anorexia nervosa. We discuss the difficulty of the differential diagnosis between anorexia nervosa and a hypothalamic eating disorder induced by the pineal gangliocytoma.

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.

Contraceptives are widely used in our times and a lot of research has been conducted to clarify their impact on Bone Mineral Density. Combined Oral Contraceptives (COCs) may be detrimental to the BMD of adolescents. However, low-dose are more protective than ultra-low-dose COCs. When it comes to premenopause and perimenopause, COCs have no impact on BMD in women with good ovarian function and no estrogen deficiency. In women with impaired ovarian function, it seems that COCs have a positive influence on BMD. Progestin onlypills may not affect BMD, but further research is needed. Depot medroxyprogesterone acetate injection (DMPA) has a negative impact, especially in adolescents, which is duration related but evidence shows that BMD recovers after discontinuation. Levonorgestrel-releasing intrauterine system (LNG-IUS) has no impact on BMD.

Background. Ovarian Leydig cell tumour is a very rare steroid hormones producing mass, causing clinical and biochemical hyperandrogenism. Even if the level of evidence is based on case studies, many authors (but not all) agree that raised androgens increase the cardio-metabolic risk thus early diagnosis and treatment are necessary On the other hand, the endocrine features pointing an ovarian tumour source of testosterone do not indicate the specific histological finding which needs a post-operative conformation. Case presentation. We report a case of a 60-yearold woman with a 4-year history of progressive virilisation in association with hypertension, high number of red blood cells, impaired glucose tolerance and dyslipidemia. Total testosterone was 20 times above normal with suppressed gonadotropins, inadequate for menopause. Trans-vaginal ultrasound and pelvic and abdominal computerized axial tomography imaging revealed a right ovarian solid nodule, and no evidence of alteration in the adrenal glands. Total hysterectomy and bilateral salpingo-oophorectomy were performed. Histopathology and immunohistochemistry confirmed the diagnosis of Leydig cell tumour. After surgery, androgen levels returned to normal and the doses of anti-hypertensive drugs were reduced. Conclusions. The hyperandrogenic state with elevated plasma testosterone and progressive signs of virilization raises suspicion of an ovarian androgen-secreting tumor. For a postmenopausal patient with hyperandrogenism the diagnosis of Leydig cell tumour should be considered. However, the exact diagnosis is provided by post-operative histological exam. Prolonged exposure to hyperandrogenism may generate cardiovascular abnormalities and metabolic syndrome which after tumor excision and removal of the source of androgen hormones are expected to significantly improve.

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.

Background. Ovarian hyperstimulation syndrome (OHSS) is a potentially life-threatening complication of the luteal\r\nphase or early pregnancy after ovulation induction or ovarian stimulation. The late OHSS form presents an onset more than 10 days after ovulation triggering and is\r\ninfluenced by pregnancy-related HCG secretion.\r\nReport. This paper presents three cases of pregnancy-related OHSS after IVF/ICSI cycles discussing risk factors and management according to European Guidelines.\r\nResults. Individual risk factors are identified such as low BMI, high antral follicle count at the beginning of the ovarian stimulation, high estradiol over 3000 pg/ml.\r\nPatients had moderate OHSS (case 2) and severe OHSS (case 1 and 3). In-patient treatment was 3-14 days. OHSS resolved in\r\nall cases, without manifestations of the critical form.\r\nConclusion. The duration of OHSS is longer in the late form, is pregnancy-related and should be monitored for adverse\r\npregnancy outcomes. However the incidence of fatal risks is low and the treatment is successful.