Vitamin D Receptor Gene Polymorphisms and Autoimmune Thyroiditis: Are They Associated with Disease Occurrence and Its Features?

PURPOSE: Vitamin D, besides its role in calcium-phosphorus metabolism, turned out to play a significant immunomodulating function. Until now four single nucleotide polymorphisms of vitamin D receptor gene (VDR), rs2228570 (FokI), rs1544410 (BsmI), rs7975232 (ApaI), and rs731236 (TaqI), have been studied in autoimmune thyroid disorders, with conflicting results. Another functional polymorphism of the VDR gene, rs11568820 (Cdx2), has been shown to influence the immune system, although it has not been studied for its association with autoimmune thyroiditis to date. Therefore, the study aimed to evaluate the association of these five VDR gene polymorphisms with susceptibility to autoimmune thyroiditis among Caucasian Polish population. A relationship between the studied polymorphisms and selected clinical features of the disease was additionally assessed. METHODS: 223 patients with autoimmune thyroiditis and 130 control subjects were enrolled in the study. VDR polymorphisms were studied by PCR-RFLP or TaqMan real-time PCR. RESULTS: Allele and genotype distributions of any of the studied polymorphisms did not differ significantly between patients and controls. Similarly, frequencies of haplotypes derived from rs1544410-rs7975232-rs731236 (BsmI-ApaI-TaqI) polymorphisms were not significantly different in the two studied groups. However, a weak association between rs1544410 (BsmI) or rs7975232 (ApaI) VDR polymorphisms and thyroid volume was found (p = 0.03 and p = 0.04, resp.). CONCLUSIONS: Our results suggest that VDR gene is not a major susceptibility factor for autoimmune thyroiditis development, at least in Caucasian Polish population.

A case of premature ovarian insufficiency in Nijmegen breakage syndrome patient and review of literature. From gene mutation to clinical management.

Background: Nijmegen breakage syndrome (NBS) is an autosomal recessive disorder leading to chromosomal instability and an array of symptoms, including characteristic facial features (bird-like face), predisposition to malignancies, as well as hypergonadotropic hypogonadism. This case report discusses the diagnostic process and management of a 23-year-old Polish female patient who was admitted to hospital with symptoms of secondary amenorrhea and clinical features corresponding to NBS. Methods: Clinical examination, per-rectal ultrasound, laboratory diagnostics (including serum concentrations of FSH, LH, estradiol, testosterone, and TSH), as well as SSCP analysis and classic karyotyping were performed. Results: During hormonal evaluation elevated serum concentration of FSH and LH and decreased serum concentration of estradiol were measured. The genetic testing revealed translocation 7;14 (t(7;14)) and inversion 7 in 22% of examined cells which confirmed the initial hypothesis of NBS. The diagnosis was finally verified by identifying a Slavic founder mutation, c.657_661del5, on both allels of the NBN gene. Furthermore, hormonal serum evaluation conducted after four weeks allowed the patient to be diagnosed with premature ovarian insufficiency (POI) suspected earlier on the grounds of preliminary examinations (ultrasound imaging and laboratory tests). Conclusions: Chromosomal instability resulting from a mutation present in Nijmegen breakage syndrome patients might be a causative factor of premature ovarian insufficiency. Therefore, females diagnosed with NBS should undergo additional diagnostic procedures in order to determine further management and treatment.

Hyperprolactinemia associated with macroprolactinoma in a 17-year-old: A case report.

Hyperprolactinemia is a relatively common endocrine disorder. In women of reproductive age it may present as the amenorrhea-galactorrhea syndrome, but in milder forms also as menstrual abnormalities or infertility. Here we describe a 17-year-old girl previously treated with a combined oral contraceptive due to secondary amenorrhea. Hormonal tests showed hypogonadotropic hypogonadism with severe hyperprolactinemia (PRL concentration 1639 ng/ml). Further tests confirmed the presence of a pituitary macroadenoma. Cabergoline treatment was effective in the restoration of a spontaneous menstrual cycle and PRL normalization. In conclusion, clinicians should be aware of the diagnostic and therapeutic problems in the management of hyperprolactinemia.

Assessment of serum selenium concentration in patients with autoimmune thyroiditis in Poznan district.

Autoimmune thyroiditis (AIT) is characterised by infiltration of lymphocytes and destruction of thyroid gland. It results from the interaction of genetic predisposition and environmental triggers. Among environmental factors some infections, medications and inadequate micronutrients supply like selenium (Se) deficiency are believed to play a role. AIM: The aim of our study was to assess the serum selenium concentration in patients with AIT and healthy volunteers in the Polish population living in the Poznan district, and to compare our results with similar trials conducted on other European AIT groups. MATERIALS AND METHODS: Fifty three patients with AIT were included in the study. Elevated thyroperoxidase antibodies and/or thyroglobulin antibodies concentration and abnormalities typical for AIT in the thyroid ultrasound were the inclusion criteria. A control group consisted of 36 healthy, age and sex-matched volunteers. RESULTS: The median Se concentration was 56.67 µg/L in the AIT group and 39.75 µg/L in the controls (p>0.05). Decreased Se concentration was observed in 62% of the patients and in 72% of the controls (p=0.47). There was no statistically significant difference in Se status in AIT group when compared to the other Polish, German, Austrian, Dutch and Greek populations with AIT. Significantly higher values were observed in Italian and Greek study when compared to present results in AIT group. CONCLUSIONS: No association between selenium status and prevalence of autoimmune thyroiditis in Polish population living in Poznan district was noticed. Nevertheless determination of the normal serum Se concentration for European populations is necessary. Further studies with enlarged studied groups should be implemented.

[Serum kisspeptin levels in patients with anorexia nervosa]. / Stezenia kisspeptyny w surowicy u chorych z rozpoznanym jadlowstretem psychicznym.

Anorexia nervosa (AN) is a disorder characterized by extreme restriction of food intake and incorrect perception of patients' body, its weight and shape. Patients diagnosed with anorexia nervosa apart from an eating disorder are characterized also by hypothalamic amenorrhea. Many neuropeptides and neurotransmitters play an important role in physiological regulation of gonadoliberin (GnRH) secretion. AIM: The aim of the study is to assess the role of kisspeptin in the etiology of anorexia nervosa. MATERIALS AND METHODS: The study was classified as 55 women aged from 17 to 28 years old. Patients were classified into two groups: study group consisted of 15 patients diagnosed with AN and control group consisted of 40 healthy women. Examination of serum blood from patients was performed by ELISA-enzyme-linked immunosorbent assay. Concentrations of serum kisspeptin, FSH, LH, estradiol, prolactin, testosterone were analyzed in patients from study and control group. RESULTS: The average body weight of patients with AN was 45.0±7.56 kg and was statistically significantly lower compared to women in the control group (61.1±7.20 kg) (p=0.0001). The average serum concentration of kisspeptin in patients with AN was 0.20±0.07 ng/ml, in women in the control group was 0.3±0.36 ng/ml (p=0.712). Serum LH concentrations in patients with AN was 2.5±1.71 mIU/ml and was statistically significantly lower compared to women in the control group (13.5±9.73 mIU/ml) (p=0.0001). The mean serum estradiol concentrations in patients with AN were 31.0±15.3 pg/ml and were statistically significantly lower compared to the control group (129.0±107.7 pg/ml) (p=0.0001). CONCLUSIONS: There was not significant difference between serum kisspeptin levels in patients with AN and healthy women. Further research is needed on the role of kisspeptin in AN.

The role of kisspeptin/neurokinin B/dynorphin neurons in pathomechanism of vasomotor symptoms in postmenopausal women: from physiology to potential therapeutic applications.

Women during perimenopausal period experience a range of symptoms, which interfere with physical, sexual, and social life. About 65-75% of symptoms connected with postmenopausal period are vasomotor symptoms (VMS), such as hot flushes and night sweats. Hot flushes are subjective sensation of heat associated with cutaneous vasodilatation and drop in core temperature. It is suspected that VMS are strongly correlated with pulsatile oversecretion of gonadotropin-releasing hormone (GnRH) and subsequently luteinizing hormone (LH). Evidence has accumulated in parallel showing that lack of negative feedback of steroid hormones synthesized in ovary causes overactivation of hypertrophied kisspeptin/neurokinin B/dynorphin (KNDy) neurons, located in infundibular nucleus. Oversecretion of both kisspeptin (KISS1) and neurokinin B (NKB), as well as downregulation of dynorphin, plays dominant role in creation of GnRH pulses. This in turn causes VMS. Administration of senktide, highly potent and selective NK3R agonist, resulted in increase of serum LH concentration, induction of VMS, increase in heart rate, and skin temperature in postmenopausal women. These finding suggest that modulation of KNDy neurons may become new therapeutic approach in the treatment of VMS.

Kisspeptin and LH pulsatile temporal coupling in PCOS patients.

PURPOSE: To evaluate the temporal coupling between spontaneous kisspeptin and luteinizing hormone (LH) pulsatile releases in polycystic ovary syndrome (PCOS) patients. METHODS: We examined 71 patients diagnosed with PCOS. A 2 h pulsatility study was performed to evaluate serum kisspeptin and LH pulse frequency and concentration, sampled every 10 min; baseline follicle-stimulating hormone (FSH), estradiol (E2), prolactin (PRL), cortisol, 17-hydroksy-progesterone (17OHP), testosterone (T), free testosterone index (FTI, and insulin levels were also measured. Detect and Specific Concordance (SC) algorithms were used to evaluate the temporal coupling associations between spontaneous episodic secretion of kisspeptin and LH. RESULTS: All PCOS patients demonstrated LH and kisspeptin pulsatile secretions. When the SC index was calculated across the sample of PCOS patients (n = 71), no temporal coupling was observed between kisspeptin and LH pulses. When PCOS patients were subdivided according to their menstrual cyclicity, oligomenorrheic patients demonstrated elevated kisspeptin pulse frequency. Additionally, the SC index reveled a temporal coupling between kisspeptin and LH secretory peaks only in eumenorrheic patients (n = 30, intermenstrual interval < 45 days). Oligomenorrheic PCOS patients (intermenstrual interval > 45 days) did not demonstrate temporal coupling between kisspeptin and LH secretory peaks. CONCLUSIONS: The study of the endogenous kisspeptin and LH pulsatile release revealed the temporal coupling of kisspeptin with LH secretory pulses only in eumenorrheic. This data supports the hypothesis that neuroendocrine impairments in PCOS affect the coupling of kisspeptin with LH pulses and potentially worsen as the disease progresses, becoming unequivocally evident in oligomenorrheic PCOS patients.

Clinical and hormonal features of women with polycystic ovary syndrome living in rural and urban areas.

INTRODUCTION: Polycystic ovary syndrome (PCOS) is one of the most common endocrinopathies among women at reproductive age, but its pathology remains unknown. From epidemiological studies it is known that endogenous, mainly genetic and exogenous, environmental factors are of importance. OBJECTIVE: The aim of the study was to compare the phenotype of women diagnosed with PCOS from urban and rural areas of Poland. According to the knowledge of the authors, this is first such study. MATERIAL AND METHODS: The retrospective study included 3,877 PCOS patients: 2511 women living in cities and 1,366 village inhabitants, aged between 18 - 45 years. Clinical data, including medical history, body mass, height and hirsutism severity was obtained from each patient. Hormones were also tested in each patient: follicle stimulating hormone, luteinizing hormone, prolactin, estradiol [E2], testosterone, dehydroepiandrosterone sulphate [DHEAS], thyroid stimulating hormone, free thyroxin, insulin [INS], 17 hydroxyprogesterone, cortisol [CORT]) and metabolic (75g oral glucose tolerance test, Chol - total cholesterol, HDL-C - high density lipoprotein cholesterol, LDL-C low density lipoprotein cholesterol, and the TG (triglicerides) profile. RESULTS: PCOS women from urban areas had a higher mean serum concentration of E2 in comparison to the inhabitants of rural areas. Women from cities had a lower mean level of DHEAS, CORT, and INS measured in the morning than rural residents. Insulin-resistance, using homeostasis model assessment, was more pronounced among women from villages. The prevalence of menstrual disorders, in general, was higher in PCOS women living in rural comparing to urban areas. CONCLUSIONS: The clinical and biochemical indices differed significantly between women diagnosed with PCOS living in cities and villages. In general in Poland, the PCOS phenotype is more severe in women living in rural areas. This study shows that different living conditions significantly affect the PCOS phenotype.

Modulatory effects of l-carnitine plus l-acetyl-carnitine on neuroendocrine control of hypothalamic functions in functional hypothalamic amenorrhea (FHA).

Functional hypothalamic amenorrhea (FHA) is a relatively frequent disease due to the combination of metabolic, physical, or psychological stressors. It is characterized by the low endogenous GnRH-induced gonadotropin secretion, thus triggering the ovarian blockade and a hypoestrogenic condition. Up to now various therapeutical strategies have been proposed, both using hormonal treatment as well as neuroactive compounds. Since carnitine, namely l-acetyl-carnitine (LAC), has been demonstrated to be effective in the modulation of the central hypothalamic control of GnRH secretion, we aimed to evaluate whether a combined integrative treatment for 12 weeks of LAC (250 mg/die) and l-carnitine (500 mg/die) was effective in improving the endocrine and metabolic pathways in a group of patients (n = 27) with FHA. After the treatment, interval mean LH plasma levels increased while those of cortisol and amylase decreased significantly. When patients were subdivided according to baseline LH levels, only hypo-LH patients showed the significant increase of LH plasma levels and the significant decrease of both cortisol and amylase plasma levels. The increased 17OHP/cortisol ratio, as index of the adrenal activity, demonstrated the reduced stress-induced adrenal activity. In conclusion, our data sustain the hypothesis that the integrative administration of LAC plus l-carnitine reduced both the metabolic and the neuroendocrine impairment of patients with FHA.

New AMH assay allows rapid point of care measurements of ovarian reserve.

In this study, we compare two commercial automated immunoassays used to evaluate serum anti-Müllerian hormone (AMH) levels as a prognostic value for ovarian response and pregnancy outcome in assisted reproductive technology cycles. Serum AMH was measured for 193 women. We performed a simultaneous measurement in serum AMH with the two alternative kits VIDAS® and Elecsys® AMH assay. For all women undergoing in vitro fertilization cycle, we collected data on their antral follicle count (AFC) and numbers of retrieved cumulus oocyte complexes (OC) and metaphase II oocytes and pregnancy outcome. The AMH values provided by VIDAS® were correlated with the values obtained with Elecsys® (0.977 for fresh and 0.971 for the frozen samples). For both assays AMH exhibited a moderate positive correlation with AFC, OC and MII oocytes (0.612, 0.674, 0.605 for VIDAS® and 0.570, 0.617, 0.530 for Elecsys®, respectively). AMH prediction of biochemical and clinical pregnancy was similar. The present results suggest that the VIDAS® AMH assay is broadly comparable to the Elecsys-AMH assay in terms of technical performance for clinical or epidemiological use. Both automated assays performed in a similar way and the choice of assay can be made depending on the technical configuration of each laboratory.

Brain-derived neurotrophic factor (BDNF) plasma concentration in patients diagnosed with premature ovarian insufficiency (POI).

Premature ovarian insufficiency (POI) is defined as a cessation of function of ovaries in women younger than 40 years old. Brain-derived neurotrophic factor (BDNF) is a protein critically involved in neuronal growth and metabolism. BDNF also has been shown to be important regulator of oocyte maturation. Recent data show that BDNF can be potentially involved in POI pathology. The aim of the study was to assess the BDNF plasma concentrations in patients diagnosed with idiopathic POI. 23 women diagnosed with POI (age 31 ± 7 years) and 18 (age 31 ± 3) controls were included to the study, matched according to age and body mass index. The BDNF concentrations were measured using competitive enzyme-linked immunosorbent assay (ELISA). Hormonal and metabolic parameters were measured in all individuals, in controls in late follicular phase. The POI group demonstrated lower mean plasma concentrations of BDNF (429.25 ± 65.52 pg/ml) in comparison to healthy controls (479.75 ± 34.75 pg/ml, p = 0.0345). The BDNF plasma concentration correlated negatively (R = -0.79, p < 0.001) with number of months since last menstrual period. There was a positive correlation between BDNF and progesterone in controls. In conclusion, POI patients show significantly lower BDNF plasma concentration and it correlates with the duration of amenorrhea. This observation brings important potential insights to the pathology of POI.

The role of progesterone therapy in early pregnancy: from physiological role to therapeutic utility.

Progesterone is a steroid hormone of essential role in reproduction. In early pregnancy, it is responsible for preparation of endometrium for implantation process and maintenance of gestational sac in uterus, also by modulation of maternal immune system. Even though, several indices has been proposed as markers of endogenous progesterone synthesis (progesterone or luteinizing hormone measurements, endometrial biopsy), none has been proved to be reliable in detecting luteal phase defect. Currently, several pharmaceutical formulations are available, but in clinical setting the non-oral formulations seems to be effective in therapy. Progesterone is effective in the treatment of patients undergoing assisted reproductive technology procedure, as a luteal phase support. Some studies showed also its efficacy in the treatment of threatening or recurrent miscarriage, but newer trials neglected this beneficial effect. Due to controversies regarding utility of progesterone supplementation in these conditions, further studies are needed to address this issue.

Inositol and human reproduction. From cellular metabolism to clinical use.

Inositol is an organic compound of high biological importance that is widely distributed in nature. It belongs to the sugar family and is mainly represented by its two dominant stereoisomers: myo-inositol and D-chiro-inositol that are found in the organism in the physiological serum ratio 40:1. Inositol and its derivatives are important components of the structural phospholipids of the cell membranes and are precursors of the second messengers of many metabolic pathways. A high concentration of myoinositol is found in the follicular fluid and in semen. Inositol deficiency and the impairment of the inositol-dependent pathways may play an important role in the pathogenesis of insulin resistance and hypothyroidism. The results of the research also point out the potential beneficial role of inositol supplementation in polycystic ovarian syndrome and in the context of assisted reproduction technologies and in vitro fertilization. The main aim of the article is to overview the major inositol-dependent metabolic pathways and to discuss its importance for reproduction.

Spontaneous endogenous pulsatile release of kisspeptin is temporally coupled with luteinizing hormone in healthy women.

OBJECTIVE: To evaluate the presence of a spontaneous pulsatile release of kisspeptin and whether it is temporally coupled to LH pulses. DESIGN: Experimental study. SETTING: Academic medical center. PATIENT(S): Thirty young healthy eumenorrheic women aged 20-37 years were included in the study group. All subjects were white women admitted to the Department of Gynecological Endocrinology, Poznan University of Medical Sciences, Poznan, Poland. INTERVENTION(S): Kisspeptin, FSH, LH, E2, PRL, and insulin were evaluated in all subjects at baseline. MAIN OUTCOME MEASURE(S): All women underwent a pulsatility study measuring LH and kisspeptin plasma concentrations to assess the spontaneous episodic secretion of both hormones, sampling every 10 minutes for 2 hours from 9:00 to 11:00 a.m. for a total of 12 blood samples. Detection and specific concordance (SC) algorithms were used to detect pulses and their concordance. RESULT(S): A significant endogenous secretory pattern was demonstrated for both LH and kisspeptin over the 2-hour duration of the study (2.4 ± 0.1 peaks/2 h). The computation of the SC index showed for the first time that kisspeptin and LH are cosecreted and temporally coupled at time "0," and their peaks occur at the same point in time. CONCLUSION(S): The present study provides evidence supporting the hypothesis that kisspeptin is highly relevant in the regulation and modulation of reproductive functions in humans.

Short-term estriol administration modulates hypothalamo-pituitary function in patients with functional hypothalamic amenorrhea (FHA).

OBJECTIVE: To evaluate the influence of short-term estriol administration (10 d) on the hypothalamus-pituitary function and gonadotropins secretion in patients affected by functional hypothalamic amenorrhea (FHA). STUDY DESIGN: Controlled clinical study on patients with FHA (n = 12) in a clinical research environment. INTERVENTION(S): Hormonal determinations and gonadotropin (luteinizing hormone [LH] and FSH) response to a gonadotropin-releasing hormone (GnRH) bolus (10 µg) at baseline condition and after 10 d of therapy with 2 mg/d of estriol per os. MAIN OUTCOME MEASURE(S): Measurements of plasma LH, FSH, prolactin, estradiol, androstenedione, 17α-hydroxyprogesterone, insulin, cortisol, thyroid-stimulating hormone, free triiodothyronine, and free thyroxine. RESULT(S): After treatment, the FHA patients showed a statistically significant increase of both LH and FSH plasma levels and the significant increase of their responses to the GnRH bolus. CONCLUSION(S): Estriol short-term therapy modulates within 10 d of administration the neuroendocrine control of the hypothalamus-pituitary unit and induces the recovery of both gonadotropins synthesis and secretion in hypogonadotropic patients with FHA.

Recurrent endometrial hyperplasia as a presentation of estrogen-secreting thecoma - case report and minireview of the literature.

Thecoma is a rare ovarian tumor, presenting usually in postmenopausal women as unilateral, benign, solid lesion. About 15% of affected patients develop endometrial hyperplasia (EH) and 20% are diagnosed with endometrial cancer. In this case report, we present 60-year-old women admitted because of recurrent spotting of 5 years duration, which started 1 year after menopause. In history, the patient underwent three times curettage procedures and once (1 year before admission) had estradiol levels typical for reproductive-age women. At admission, we found elevated serum levels of estradiol (222.5 pg/ml) and a small mass in the right ovary. The markers of germ cell tumors were negative. After the initial diagnosis, the patient was qualified for total abdominal hysterectomy with bilateral salpingo-oophorectomy. The histopathological examination and immunohistochemical staining confirmed the thecoma diagnosis. In follow-up examination after 8 weeks, we found decreased serum estradiol levels and relief of the symptoms. In conclusion, we want to underline that in cases of EH, especially in patients with a history of recurrences, the special attention should be paid for differential diagnosis. In such cases, the estrogen-secreting tumors should be excluded.

[Vitex Agnus Castus in the treatment of hyperprolactinemia and menstrual disorders - a case report]. / Vitex Agnus Castus w leczeniu hiperprolaktynemii i zaburzen cyklu miesiaczkowego - opis przypadku.

We describe a patient with mild hyperprolactinemia and menstrual disorders (oligomenorrhea). She presented relative hypoestrogenism in laboratory tests. Magnetic resonans excluded the presence of pituitary adenoma. Because patient developed a bromocriptine intolerance, the Vitex Agnus Castus (VAC) extract has been introduced. The VAC therapy was effective, with symptoms relief and improvement of hormonal tests. The VAC medicines are indicated for the treatment of premenstrual syndrome (PMS), mastalgia, menstrual disorders and mild hyperprolactinemia. The mechanism of action is not fully understood, but it is related to dopaniergic activity of diterpenes and castacin in VAC. The randomized clinical trials revealed efficacy of VAC extract in the treatmet of hyperprolactinemia, menstrual disorders, PMS and mastalgia. Good tolerability, lack of serious side-effects and drug interactions are the advantages of the VAC preparations.

Pregnancy complications in polycystic ovary syndrome patients.

Infertility is a widely disputed problem affecting patients suffering from polycystic ovary syndrome (PCOS). As a serious dysfunction, it frequently occurs in PCOS patients. It is, therefore, important to devote more attention to pregnancy in PCOS sufferers. According to various data, the risk of miscarriage in PCOS women is three times higher than the risk of miscarriage in healthy women. Unfortunately, the risk of most frequent pregnancy pathologies is also higher for PCOS patients, as gestational diabetes (GD), pregnancy-induced hypertension and pre-eclampsia, and small for gestational age (SGA) children. Impaired glucose tolerance and GD in pregnant PCOS patients occur more frequently than in healthy women. A quadruple increase in the risk of pregnancy-induced hypertension linked to arterial wall stiffness has also been observed in PCOS patients. The risk of pre-eclampsia, the most severe of all complications, is also four times higher in those suffering from PCOS. Pre-eclampsia is also more frequent in patients presenting additional risk factors accompanying PCOS, such as obesity or GD. At that point, it should be mentioned that PCOS patients are under 2.5 higher risk of giving birth to SGA children than healthy women. It appears that SGA can be linked to insulin resistance and insulin-dependent growth dysfunction. Therefore, PCOS pregnant women are patients of special obstetrical care.

Health in older women athletes.

Physical activity has been identified as a protective factor against a wide spectrum of diseases, but little is known about the link between older women's health and their professional involvement in sport in the past. The aim of this narrative review is to characterize and summarize the available data concerning the influence of physical activity on morbidity and mortality in former female athletes. Concerning bone health, it seems that physical activity in the past can be protective against osteoporosis in postmenopausal women, but these data come from observational studies only. Also the cardiovascular system appears to benefit in older women from regular sport in the past. This refers mainly to better heart efficiency, and improved endothelial function and metabolic profile. The incidence of different types of neoplasms, especially breast cancer, is also decreased in former athletes. Professional sport, on the other hand, acts negatively on the pelvic floor and is a risk factor for urinary incontinence. The overall effect on mortality is difficult to assess, because of many parameters, such as the sport's intensity, variety of the sport and exposure to extreme danger in some disciplines. Also, caution should be kept in interpretation of the data because of the shortage of well-designed studies.

Brain-derived neurotrophic factor plasma levels in patients with Turner syndrome.

INTRODUCTION: Brain-derived neurotrophic factor (BDNF) plays a key role in neural development and synaptic plasticity. BDNF is known to circulate in plasma and its levels are strictly linked to the sex hormones. AIM: The aim of this study was to assess the plasma BDNF concentration in patients with Turner syndrome (TS). This is a first of such study in TS women. METHODS: 31 TS patients were enrolled to the study and compared with a control group (10 healthy, ovulatory women). We collected blood for measurement of BDNF plasma concentration, estradiol (E2) and gonadotrophins serum levels. The blood was taken after overnight fasting, in menstruating women in follicular phase. RESULTS: We found that BDNF plasma concentration was significantly higher in the group of TS patients compared to the control group (mean 768.5 ± 194.9 pg/ml versus 407.2 ± 25.7 pg/ml; p < 0.0001). What is more, the BDNF levels in TS were not correlated to E2 levels, whereas in the control group, positive and strong correlation with E2 was found (r = 0.92; p < 0.0001). The testosterone concentration correlated strongly with BDNF levels in TS patients. CONCLUSIONS: In this study, we showed for the first time that TS patients has a higher BDNF levels than healthy ones and BDNF is not correlated with E2 concentration but tend to be related to testosterone. This study brings interesting insights to BDNF physiology.