Fluorescence in situ hybridisation sperm examination is significantly impaired in all categories of male infertility.

To study the outcome of FISH sperm examination in cases with sperm pathology and outline the potential correlation with certain chromosomal defects. A retrospective study of prospectively collected data was performed in IAKENTRO, Infertility Treatment Center. Rates of abnormal FISH semen examination were compared between male infertility patients and fertile controls. Detection of abnormal FISH semen examination as well as each chromosomal abnormality detected was correlated with each sperm deficiency (asthenozoospermia, oligozoospermia and teratozoospermia) in a univariate regression model. There were 72 male partners included, of which 52 male infertility patients and 20 controls. The rate of abnormal sperm FISH examination was significantly higher in patients' group (55.8% vs. 15.0% for controls, p = .002). Asthenozoospermia, oligozoospermia and teratozoospermia were significantly correlated with detection of abnormal FISH examination (p = .004, p = .01 and p < .001 respectively). Teratospermia was significantly correlated with increased aneuploidy rate for chromosome 17 (p = .005), chromosome X (p = .05) and Y (p = .03). FISH examination reveals pathology in a significant proportion of patients with sperm defects and should be recommended to achieve early detection of chromosomal defects that may postpone favourable reproductive outcome.

Effect of short-term tibolone treatment on risk markers for cardiovascular disease in healthy postmenopausal women: a randomized controlled study.

OBJECTIVE: The aim of this prospective randomized controlled cross sectional study was to evaluate the effect of a six month tibolone treatment in healthy postmenopausal women on biochemical CVD markers by calculating the changes of the blood serum levels of total cholesterol (TC), low-density lipoprotein (LDL), high-density lipoprotein (HDL), triglycerides (Tg), high-sensitivity C-reactive protein (hsCRP), homocysteine (Hcy), and endothelin-1 (ET-1) at the beginning of the treatment and after six months. MATERIALS AND METHODS: Fifty-two healthy postmenopausal women were enrolled in a prospective, randomized, case-controlled outpatient trial. Group 1 (n = 26) received 2,5 mg/d tibolone for six months, while Group 2 (n = 26) received no treatment. Serum levels ofTC, LDL, HDL, Tg, hsCRP, Hcy, and ET-1 were evaluated at baseline and after six months. RESULTS: The two groups did not statistically differ at baseline characteristics. In Group 1 tibolone treatment decreased significantly TC (p = 0.01), HDL (p < 0.001), and Tg (p < 0.001) serum levels while a significant increase ofhsCRP (p < 0.001) was observed. Finally no changes were noticed on LDL, Hcy, and ET-1 serum levels. Regarding Group 2, no changes were observed. CONCLUSION: Short-term tibolone treatment in healthy postmenopausal women exerts a mixed action, acting beneficially in some markers (TC, LDL, Tg, Hcy, and ET-1) where as detrimentally in others (HDL, hsCRP).

The impact of six-month tibolone postmenopausal treatment on cell adhesion molecules levels.

PURPOSE: The aim of the present study was to evaluate the effects of tibolone on inter-cellular adhesion molecule-1 (ICAM-1), vascular cell adhesion molecule-1 (VCAM-1), inter-cellular adhesion molecule-2 (ICAM-2) and P-selectin levels in healthy postmenopausal women. METHODS: This prospective study included 25 postmenopausal women, complaining of hot flashes, assigned in two groups. Fifteen women received tibolone (dosage of 2.5 mg per day for six months) and ten women did not receive any therapy, according to their personal preference. Basal control included complete medical history, anthropometrics, clinical examination, and blood sampling to perform hormonal, biochemical, hematological testing and ICAM-1, ICAM-2, VCAM-1 and P-selectin measurements. Evaluation was repeated in three and six months. RESULTS: There was no significant difference in ICAM-1, VCAM-1, ICAM-2, P-selectin, homocysteine, total cholesterol, HDL, LDL, and triglyceride concentrations between the women of the two groups after either three or six months of treatment. However, a significant reduction in the frequency and intensity of hot flashes was noted in both groups. CONCLUSIONS: Tibolone does not have any adverse effects on cell adhesion molecule levels which primarily affect atherosclerotic processes or on triglyceride and homocysteine concentrations. These results may support the view that tibolone could be considered a safe treatment, regarding its impact on the endothelium, in healthy postmenopausal women.

Amniocentesis-related adverse outcomes according to placental location and risk factors for fetal loss after midtrimester amniocentesis.

PURPOSE OF INVESTIGATION: Amniocentesis-related adverse outcomes in singleton pregnancies and possible risk factors for fetal loss after mid-trimester amniocentesis performed in a single institution were investigated. METHODS: Amniocentesis-related adverse outcomes such as insufficient aspiration of amniotic fluid (AF), repeated puncture, and aspiration of hemorrhagic AF after mid-trimester amniocentesis were reviewed, while special consideration was given according to the placental location. Fetal loss rate up to 24 weeks of gestation and risk factors related to fetal losses were also investigated. RESULTS: 5,948 cases with the inclusion criteria were analyzed. Advanced maternal age was the most common indication (53%) for amniocentesis. A need for repeated puncture was overall 2.1% (n = 128) and was associated with a fundal placental location. Aspiration of hemorrhagic amniotic fluid was observed in 3.7% (n = 222) and was significantly associated with an anterior or fundal placental position. Fetal loss rate was 0.3% and there was no relationship with advanced maternal age (> or = 35 years), gestational age at amniocentesis > 18 weeks, repeated procedure, aspiration of hemorrhagic AF or placental location. CONCLUSION: Anterior or fundal placental position is a risk factor for amniocentesis-related adverse outcomes, however without significant contribution to the fetal losses. Placental location, advanced maternal age, amniocentesis gestational age > 18 weeks, and the procedure's adverse outcomes seem to have no impact on fetal loss rate.

Genetics of polycystic ovary syndrome.

Polycystic ovary syndrome (PCOS) is a syndrome involving defects in primary cellular control mechanisms that result in the expression of chronic anovulation and hyperandrogenism. This syndrome has been for many years one of the most controversial entities in gynecological endocrinology. Polycystic ovary syndrome has been proven to be a familial condition. Although the role of genetic factors in PCOS is strongly supported, the genes that are involved in the etiology of the syndrome have not been fully investigated until now, as well as the environmental contribution in their expression. The heterogeneity of the syndrome entertains the mystery around this condition which concerns thousands of infertile women worldwide. Some genes have shown altered expression suggesting that the genetic abnormality in PCOS affects signal transduction pathways controlling steroidogenesis, steroid hormones action, gonadotrophin action and regulation, insulin action and secretion, energy homeostasis, chronic inflammation and others. The present review of the contemporary literature constitutes an effort to present all the trends in the current research for the etiology of polycystic ovary syndrome.

Effect of hypocaloric diet plus sibutramine treatment on hormonal and metabolic features in overweight and obese women with polycystic ovary syndrome: a randomized, 24-week study.

OBJECTIVE: To examine the effect of hypocaloric diet plus sibutramine on body composition, hormonal and metabolic parameters in overweight and obese patients with polycystic ovary syndrome (PCOS). DESIGN: Open-label, randomized study at an outpatient clinic. PATIENTS: A total of 59 overweight and obese (18-39 years old) women with PCOS. MEASUREMENTS: All patients were placed in a hypocaloric diet plus sibutramine (10 mg per day) for the first month and then on a hypocaloric diet plus sibutramine (10 mg per day, group S) or hypocaloric diet only (group D) for the subsequent 6 months. Body composition, hormonal and metabolic features and insulin sensitivity (oral glucose tolerance test, OGTT) were evaluated at baseline and at 3 and 6 months of treatment. RESULTS: Body weight reduced in both groups but the reduction was greater with sibutramine (-15.4+/-1.1 vs -11.1+/-1.9% in groups S and D, respectively, P<0.05). At 6 months, a greater percent of patients lost more than 10% of initial body weight in group S than D (81 vs 52.9%). In both groups, all women with abnormal OGTT at baseline presented normal glucose tolerance after 6 months. Free androgen index (FAI), glucose area under the curve and fasting triglyceride (TG) concentration were reduced after 6 months in group S only (P<0.05). No changes in cardiovascular risk factors, prolactin and hepatic enzymes levels were observed in both groups. CONCLUSION: A hypocaloric diet and a diet plus sibutramine both result in significant weight loss in overweight and obese women with PCOS. Patients who received sibutramine showed a greater weight loss and improvement in hyperandrogenemia and insulin sensitivity after 6 months of treatment. The amelioration of insulin resistance in this group could not be totally explained by weight loss. Total testosterone, FAI and TG levels reduction could be a possible mechanism. Finally, sibutramine increased compliance to diet and it was well tolerated from these patients.

Kisspeptins: a multifunctional peptide system with a role in reproduction, cancer and the cardiovascular system.

The pairing of the kisspeptins (KP) with the KISS1 (GPR54) receptor has received growing attention since the description of the receptor as a molecular switch for puberty. The role of KP and its receptor, GPR54, in puberty is the most exciting finding made in the field of reproductive biology since the discovery of Gonadotropin Releasing Hormone (GnRH) in 1970s. A significant body of evidence across several species now suggests that KISS1 (GPR54) activation is a critical point in the commencement of puberty, although further investigation is required to characterize the interaction between KP and GnRH cascade. Given such pivotal roles of kisspeptins and GPR54 as gatekeepers of reproductive function, and the proven ability of sex steroids to physiologically regulate this system, it is plausible that environmental compounds with ability to interfere oestrogen and/or androgen signaling (agonists or antagonists) may target the hypothalamic kiss-1/GPR54 system, thereby inducing functional alterations of the hypothalamic-pituitary-gonadal axis. Synthetic agonists targeting KISS1 (GPR54) may represent novel therapeutic agents for the treatment of hypogonadotrophic hypogonadism in some affected individuals. The diverse multifunctional nature of the KP is beginning to unravel. The unexpected role of these peptides in puberty has raised a number of important questions that remain to be answered.

Is the Y chromosome all that is required for sex determination?

The gender identity of a person is the final result of genetic, hormonal and morphologic sex. Over a long period sex determination, and, specifically, male sex determination, has been correlated to the presence of the Y chromosome, which in turn has been the karyotype signal of the testes. However, research has provided data to convince that this theory is only part of the truth. In addition to the Y chromosome, a multitude of other genes influence sex determination and are able to cause male to female sex-reversal and vice versa. It is of great interest that these genes are located in more than one autosomal chromosomes or even in the X chromosome. It has become obvious that sex determination, according to the genetic sex, is a complicated matter that not only requires the presence of Y chromosome. This fact triggered extensive research of the Y chromosome and led to great insight into its structure, origin, evolution and eventual fate in humans.

Late pregnancy complications in polycystic ovarian syndrome.

Gestational diabetes mellitus and new-onset hypertension, which includes gestational hypertension and pre-eclampsia, are common complications of pregnancy. Many features of the insulin resistance syndrome have been associated with these conditions. These include glucose intolerance, hyperinsulinemia, hypertension, obesity, and lipid abnormalities. Other accompanying abnormalities may include elevated serum levels of leptin, TNFalpha, plasminogen activator inhibitor-1 and testosterone. The establishment of these features before the onset of gestational diabetes mellitus and hypertension in pregnancy suggests that insulin resistance or associated abnormalities may play a role in these disorders. These observations suggest that therapeutic interventions to reduce insulin resistance may lower the risk of both gestational diabetes mellitus and hypertension in pregnancy.

Anovulation and ovulation induction.

Conventional treatment of normogonadotropic anovulatory infertility is ovulation induction using the antiestrogen clomiphene citrate, followed by follicle-stimulating hormone. Multiple follicle development, associated with ovarian hyperstimulation, and multiple pregnancy remain the major complications. Cumulative singleton and multiple pregnancy rate data after different induction treatments are needed. Newer ovulation induction interventions, such as insulin-sensitizing drugs, aromatase inhibitors and laparoscopic ovarian electrocoagulation, should be compared with conventional treatments. Ovulation induction efficiency might improve if patient subgroups with altered chances for success or complications with new or conventional techniques could be identified, using multivariate prediction models based on initial screening characteristics. This would make ovulation induction more cost-effective, safe and convenient, enabling doctors to advise patients on the most effective and patient-tailored treatment strategy.