A Risk of Gonadoblastoma in Familial Swyer Syndrome-A Case Report and Literature Review.

A complete gonadal dysgenesis (CGD) with 46,XY karyotype is known as the Swyer syndrome and belongs to the group of 46,XY differences of sex development (DSD). The main problem in patients with Swyer syndrome is the delayed puberty and primary amenorrhea. Moreover, intrabdominal dysgenetic gonads in the patient with genetic material of a Y chromosome may conduce to the development of gonadal tumors, such as gonadoblastoma or germinoma. The management of such patients is based on preventive excision of dysgenetic gonads and long-term hormonal replacement therapy. Sporadic cases are considered more common than familial cases. This paper presents two siblings with Swyer syndrome in whom gonadoblastoma was found. A thorough review of familial CGD with 46,XY DSD in the literature from the last 15 years suggests that the risk of gonadal tumors could be increased in familial compared to sporadic cases (66.6% vs. 15-45%, respectively).

Association of Obesity and Bariatric Surgery on Hair Health.

Obesity and obesity-related conditions today constitute a public health problem worldwide. Obesity is an "epidemic" chronic disorder, which is defined by the WHO as normal or excessive fat accumulation that may impair health. It is also defined for adults as a BMI that is greater than or equal to 30. The most common obesity-related diseases are type 2 diabetes mellitus, cardiovascular diseases, metabolic syndrome, chronic kidney disease, hyperlipidemia, hypertension, nonalcoholic fatty liver disease, and certain types of cancer. It has been also proven that obesity can have a negative effect on hair. It can lead to hair thinning. Patients with obesity can undergo bariatric surgery if they meet the inclusion criteria. The four common types of weight loss surgery include a duodenal switch with biliopancreatic diversion, laparoscopic adjustable gastric banding, Roux-en-Y gastric bypass, and sleeve gastrectomy. Bariatric surgery can affect skin and hair and is associated with telogen effluvium due to weight loss, microelement deficiency, anesthesia, low calorie intake, and low protein intake. Patients who undergo bariatric surgery can experience post-bariatric surgery depression. Hair loss can have a major impact on self-esteem, negatively affecting one's self-image. The purpose of this narrative review is to critically review how obesity, obesity-related diseases, and bariatric surgery affect hair health in general and the hair development cycle, and how they influence hair loss.

Abdominal Obesity in Women with Polycystic Ovary Syndrome and Its Relationship with Diet, Physical Activity and Insulin Resistance: A Pilot Study.

Abdominal obesity is a common feature of women with polycystic ovary syndrome (PCOS), and it is known to exacerbate insulin resistance (IR). Improper dietary and physical activity patterns are crucial environmental factors involved in the development of obesity, and they can significantly influence the central deposition of adipose tissue. Therefore, in this cross-sectional study, we aimed to evaluate the relationship between abdominal adiposity (measured by VAT (visceral adipose tissue), SAT (subcutaneous adipose tissue), VAT/SAT ratio (visceral to subcutaneous fat ratio), and WHR (waist-to-hip ratio)) and the prevalence and odds ratios of IR (measured by the homeostatic model assessment of insulin resistance (HOMA-IR), the homeostatic model assessment-adiponectin (HOMA-AD) and leptin to adiponectin ratio (L/A ratio)) in 56 PCOS women. Furthermore, we investigated the relationship between these abdominal obesity indices and diet and physical activity. An original food frequency questionnaire and Actigraph GT3X-BT were used to assess adherence to the diet recommended in IR and the level of physical activity, respectively. We observed a higher prevalence of IR among women with higher VAT, VAT/SAT, and WHR values compared to women with normal values of those abdominal obesity indices. Moreover, VAT/SAT seemed to be the best predictor of IR measured by HOMA-IR and HOMA-AD. However, VAT appeared to be the best and strongest predictor of IR measured by the L/A ratio. We also observed that higher adherence to the diet recommended in IR and higher levels of vigorous physical activity were associated with lower values of central fat accumulation indices and a greater chance of their normal values. Our findings indicate that central obesity increases the odds of IR and supports the beneficial role of diet and physical activity in the management of abdominal obesity in PCOS women.

Physical Activity, Rather Than Diet, Is Linked to Lower Insulin Resistance in PCOS Women-A Case-Control Study.

Insulin resistance (IR) is a prominent feature of polycystic ovary syndrome (PCOS). The importance of lifestyle interventions in the management of PCOS is strongly highlighted and it is suggested that diet and physical activity may significantly influence insulin sensitivity. Therefore, we evaluated the link between diet and physical activity and various indices of insulin resistance, including adipokines secreted by the adipose tissue in 56 PCOS and 33 healthy control women. The original food frequency questionnaire and Actigraph GT3X-BT were used to assess the adherence to the diet recommended in IR and the level of physical activity, respectively. We observed that higher levels of physical activity were associated with lower HOMA-IR and a greater chance of its normal value in PCOS group. No such relationship was observed for other IR indices and adipokines or for the diet. However, we noted a strong correlation between HOMA-IR (Homeostatic Model Assessment of Insulin Resistance) and HOMA-AD (Homeostatic Model Assessment-Adiponectin) in PCOS women. Additionally, when we used HOMA-AD we observed a higher prevalence of IR among PCOS women. Our study supports the beneficial role of physical activity in the management of insulin resistance in PCOS women. Moreover, our findings indicate that HOMA-AD may be a promising surrogate marker for insulin resistance assessment in women with PCOS.

OXIDATIVE STRESS AND REPRODUCTIVE FUNCTION: Oxidative stress in polycystic ovary syndrome.

In brief: A genetic, epigenetic, and environmental association exists between oxidative stress (OS) and polycystic ovary syndrome (PCOS), expressed in a multifaceted clinical profile. This review summarizes and discusses the role of OS in the pathogenesis of PCOS syndrome, focusing on metabolic, reproductive, and cancer complications. Abstract: Oxidative stress (OS), an imbalance between oxidants and antioxidants in cells, is one of many factors playing essential roles in the pathogenesis of polycystic ovary syndrome (PCOS). PCOS is described mainly as a disproportion of reproductive hormones, leading to chronic anovulation and infertility in women. Interestingly, OS in PCOS may be associated with many disorders and diseases. This review focuses on characteristic markers of OS in PCOS and the relationship between OS and PCOS related to insulin resistance (IR), hyperandrogenemia, obesity, chronic inflammation, cardiovascular diseases, and cancer. Interestingly, in patients with PCOS, an increase in oxidative status and insufficient compensation of the increase in antioxidant status before any cardiovascular complications are observed. Moreover, free radicals promote carcinogenesis in PCOS patients. However, despite these data, it has not been established whether oxygen stress influences PCOS development or a secondary disorder resulting from hyperglycemia, IR, and cardiovascular and cancer complications in women.

Lymphogranuloma venereum: an emerging problem in Poland.

Lymphogranuloma venereum (LGV) is a sexually transmitted disease that increases in incidence, particularly in more developed countries worldwide. LGV is caused by Chlamydia trachomatis serovars/genovars L1-3, including their subvariants, and in Europe mostly affects men who have sex with men (MSM). It can be asymptomatic but has now emerged as a frequent cause of severe proctitis/proctocolitis, especially in MSM. LGV has often been misdiagnosed as C. trachomatis serovars/genovars D-K infection. It is essential with accurate diagnosis that ensures appropriate treatment and protects the patient from complications and sequelae as well as from the consequences of misdiagnosis, e.g. as inflammatory bowel disease or cancer. We present a systematic review of LGV and two new LGV cases diagnosed in Poland.

Neuroendocrine Determinants of Polycystic Ovary Syndrome.

Polycystic ovary syndrome (PCOS) is the most common endocrine disorder in women and a major cause of anovulatory infertility. A diagnosis of PCOS is established based the presence of two out of three clinical symptoms, which are criteria accepted by the ESHRE/ASRM (European Society of Human Reproduction and Embryology/American Society for Reproductive Medicine). Gonadotropin-releasing hormone (GnRH) is responsible for the release of luteinizing hormone, and follicle stimulating hormone from the pituitary and contributes a leading role in controlling reproductive function in humans. The goal of this review is to present the current knowledge on neuroendocrine determinations of PCOS. The role of such neurohormones as GnRH, and neuropeptides kisspeptin, neurokinin B, phoenixin-14, and galanin is discussed in this aspect. Additionally, different neurotransmitters (gamma-aminobutyric acid (GABA), glutamate, serotonin, dopamine, and acetylcholine) can also be involved in neuroendocrine etiopathogenesis of PCOS. Studies have shown a persistent rapid GnRH pulse frequency in women with PCOS present during the whole ovulatory cycle. Other studies have proved that patients with PCOS are characterized by higher serum kisspeptin levels. The observations of elevated serum kisspeptin levels in PCOS correspond with the hypothesis that overactivity in the kisspeptin system is responsible for hypothalamic-pituitary-gonadal axis overactivity. In turn, this causes menstrual disorders, hyperandrogenemia and hyperandrogenism. Moreover, abnormal regulation of Neurokinin B (NKB) is also suspected of contributing to PCOS development, while NKB antagonists are used in the treatment of PCOS leading to reduction in Luteinizing hormone (LH) concentration and total testosterone concentration. GnRH secretion is regulated not only by kisspeptin and neurokinin B, but also by other neurohormones, such as phoenixin-14, galanin, and Glucagon-like peptide-1 (GLP-1), that have favorable effects in counteracting the progress of PCOS. A similar process is associated with the neurotransmitters such as GABA, glutamate, serotonin, dopamine, and acetylcholine, as well as the opioid system, which may interfere with secretion of GnRH, and therefore, influence the development and severity of symptoms in PCOS patients. Additional studies are required to explain entire, real mechanisms responsible for PCOS neuroendocrine background.

Binge Eating Disorder-The Point Prevalence among Polish Women with Polycystic Ovary Syndrome and Validity of Screening Tool for This Population.

BACKGROUND: Polycystic ovary syndrome (PCOS) is one of the most common endocrine disorders which is associated with an increased risk of metabolic dysregulation. The elevated prevalence of obesity has been observed in women with PCOS. Since obesity is commonly associated with eating disturbances, including the binge eating disorder (BED), and since the hormonal changes in PCOS patients could influence the food intake model, we decided to estimate the prevalence of BED in PCOS patients and to assess the sensitivity and specificity of the Questionnaire for Binge Eating Screening (QBES) in PCOS patients. METHODS: A total of 122 hospitalized women with PCOS aged 16-45 (M = 26; SD = 5.22) took part in the study. Binge eating disorder (BED) was diagnosed according to the DSM-5 diagnostic criteria. QBES was used as a screening tool for BED. RESULTS: The point prevalence of BED in PCOS women according to DMS-5 criteria was 51 (42%). At least two positive answers to four QBES items had 100% sensitivity and 91% specificity. Positive answers to even only the first two questions from QBES had 98% sensitivity and 85% specificity. CONCLUSIONS: Women with polycystic ovary syndrome are at a very high risk of binge eating behaviors. Screening for eating disorders should be a routine procedure in women with PCOS. The first two questions from QBES are a brief and relatively reliable screening tool that may be used in everyday practice with POSC patients.

Anti-Müllerian Hormone in Pathogenesis, Diagnostic and Treatment of PCOS.

Polycystic ovary syndrome (PCOS) is the most common endocrine disorder among reproductive-aged women. It is characterized by chronic anovulation, hyperandrogenism, and the presence of polycystic ovary in ultrasound examination. PCOS is specified by an increased number of follicles at all growing stages, mainly seen in the preantral and small antral follicles and an increased serum level of Anti-Müllerian Hormone (AMH). Because of the strong correlation between circulating AMH levels and antral follicle count on ultrasound, Anti-Müllerian Hormone has been proposed as an alternative marker of ovulatory dysfunction in PCOS. However, the results from the current literature are not homogeneous, and the specific threshold of AMH in PCOS and PCOM is, therefore, very challenging. This review aims to update the current knowledge about AMH, the pathophysiology of AMH in the pathogenesis of PCOS, and the role of Anti-Müllerian Hormone in the treatment of this syndrome.

Autoimmune Diseases in Patients with Premature Ovarian Insufficiency-Our Current State of Knowledge.

Premature ovarian insufficiency (POI), previously known as premature ovarian failure or premature menopause, is defined as loss of ovarian function before the age of 40 years. The risk of POI before the age of 40 is 1%. Clinical symptoms develop as a result of estrogen deficiency and may include amenorrhea, oligomenorrhea, vasomotor instability (hot flushes, night sweats), sleep disturbances, vulvovaginal atrophy, altered urinary frequency, dyspareunia, low libido, and lack of energy. Most causes of POI remain undefined, however, it is estimated that anywhere from 4-30% of cases are autoimmune in origin. As the ovaries are a common target for autoimmune attacks, an autoimmune etiology of POI should always be considered, especially in the presence of anti-oocyte antibodies (AOAs), autoimmune diseases, or lymphocytic oophoritis in biopsy. POI can occur in isolation, but is often associated with other autoimmune conditions. Concordant thyroid disorders such as hypothyroidism, Hashimoto thyroiditis, and Grave's disease are most commonly seen. Adrenal autoimmune disorders are the second most common disorders associated with POI. Among women with diabetes mellitus, POI develops in roughly 2.5%. Additionally, autoimmune-related POI can also present as part of autoimmune polyglandular syndrome (APS), a condition in which autoimmune activity causes specific endocrine organ damage. In its most common presentation (type-3), APS is associated with Hashomoto's type thyroid antibodies and has a prevalence of 10-40%. 21OH-Antibodies in Addison's disease (AD) can develop in association to APS-2.

Chronic Low Grade Inflammation in Pathogenesis of PCOS.

Polycystic ovary syndrome (PCOS) is a one of the most common endocrine disorders, with a prevalence rate of 5-10% in reproductive aged women. It's characterized by (1) chronic anovulation, (2) biochemical and/or clinical hyperandrogenism, and (3) polycystic ovarian morphology. PCOS has significant clinical implications and can lead to health problems related to the accumulation of adipose tissue, such as obesity, insulin resistance, metabolic syndrome, and type 2 diabetes. There is also evidence that PCOS patients are at higher risk of cardiovascular diseases, atherosclerosis, and high blood pressure. Several studies have reported the association between polycystic ovary syndrome (PCOS) and low-grade chronic inflammation. According to known data, inflammatory markers or their gene markers are higher in PCOS patients. Correlations have been found between increased levels of C-reactive protein (CRP), interleukin 18 (IL-18), tumor necrosis factor (TNF-α), interleukin 6 (IL-6), white blood cell count (WBC), monocyte chemoattractant protein-1 (MCP-1) and macrophage inflammatory protein-1α (MIP-1α) in the PCOS women compared with age- and BMI-matched controls. Women with PCOS present also elevated levels of AGEs and increased RAGE (receptor for advanced glycation end products) expression. This chronic inflammatory state is aggravating by obesity and hyperinsulinemia. There are studies describing mutual impact of hyperinsulinemia and obesity, hyperandrogenism, and inflammatory state. Endothelial cell dysfunction may be also triggered by inflammatory cytokines. Many factors involved in oxidative stress, inflammation, and thrombosis were proposed as cardiovascular risk markers showing the endothelial cell damage in PCOS. Those markers include asymmetric dimethylarginine (ADMA), C-reactive protein (CRP), homocysteine, plasminogen activator inhibitor-I (PAI-I), PAI-I activity, vascular endothelial growth factor (VEGF) etc. It was also proposed that the uterine hyperinflammatory state in polycystic ovary syndrome may be responsible for significant pregnancy complications ranging from miscarriage to placental insufficiency. In this review, we discuss the most importance evidence concerning the role of the process of chronic inflammation in pathogenesis of PCOS.

Hormonal Effects on Hair Follicles.

The hair cycle and hair follicle structure are highly affected by various hormones. Androgens-such as testosterone (T); dihydrotestosterone (DHT); and their prohormones, dehydroepiandrosterone sulfate (DHEAS) and androstendione (A)-are the key factors in terminal hair growth. They act on sex-specific areas of the body, converting small, straight, fair vellus hairs into larger darker terminal hairs. They bind to intracellular androgen receptors in the dermal papilla cells of the hair follicle. The majority of hair follicles also require the intracellular enzyme 5-alpha reductase to convert testosterone into DHT. Apart from androgens, the role of other hormones is also currently being researched-e.g., estradiol can significantly alter the hair follicle growth and cycle by binding to estrogen receptors and influencing aromatase activity, which is responsible for converting androgen into estrogen (E2). Progesterone, at the level of the hair follicle, decreases the conversion of testosterone into DHT. The influence of prolactin (PRL) on hair growth has also been intensively investigated, and PRL and PRL receptors were detected in human scalp skin. Our review includes results from many analyses and provides a comprehensive up-to-date understanding of the subject of the effects of hormonal changes on the hair follicle.

Concerning the Article by Arezoo Maleki-Hajiagha et al. entitled: Serum Prostate-Specific Antigen Level in Women with Polycystic Ovary Syndrome: A Systematic Review and Meta-analysis.

Dear Editor,We carefully read with a great interest the study of Arezoo Maleki-Hajiagha et al. entitled: Serum Prostate-Specific Antigen Level in Women with Polycystic Ovary Syndrome: A Systematic Review and Meta-Analysis 1. We thank the authors for their hard work and also citing our latest work in this field-covering the largest study population ( Rudnicka et al. 2016) 2. However, we think that the title of that meta-analysis is not appropriate and the conclusions are not adequate.

Prostate specific antigen (PSA) in diagnosis of polycystic ovarian syndrome - a new insight.

INTRODUCTION: Polycystic ovary syndrome (PCOS) is the commonest endocrine disorder and cause of androgen excess in women. Prostate specific antigen (PSA) could be a new marker of hyperandrogenism in PCOS. OBJECTIVE: The aim of the study was to assess the concentration PSA (total PSA - TPSA and free PSA - fPSA) in 165 patients with PCOS and 40 healthy female controls, the relationship between PSA (TPSA and fPSA) and hormonal parameters and to determine the performance of PSA in diagnosis of PCOS. RESULTS: Total PSA was higher in PCOS group versus controls. The fPSA was below the lower detection levels among all patients. The median value of FAI was 4.31 in PCOS patients versus 1.79 in controls, p < 0.001. There was a correlation of TPSA and tT (r= 0.173, p = 0.027) and TPSA and FAI (r = 0.2603, p = 0.001). AUC for FAI was 82.1%, threshold 2.56 nmol/l, for tT AUC 80.5%, threshold 0.54 ng/ml, for TPSA AUC 66.3%, threshold 0.005 ng/ml. The ROC analysis for A AUC 62.7%, threshold 3.95 ng/ml. CONCLUSION: PCOS women have higher serum concentration of TPSA than controls. TPSA positively correlate with T and FAI, which is the best marker for hyperandrogenic states and has better accuracy for tT and total PSA serum levels in diagnostic of PCOS.

[Androgen and 17-hydroxyprogesterone concentrations in blood serum versus menstrual patterns in women with polycystic ovary syndrome (PCOS)]. / Stezenie hormonów androgennych oraz 17-hydroksyprogesteronu w surowicy krwi a wzorzec miesiaczkowania u pacjentek z zespolem policystycznych jajników.

THE AIM OF THE STUDY: to evaluate correlation between androgen and 17-hydroxyprogetserone concentrations in blood serum and menstrual patterns of women with polycystic ovary syndrome. MATERIAL AND METHODS: 227 patients with polycystic ovarian syndrome (PCOS), aged 18 to 35 years, hospitalized at the Department of Gynecological Endocrinology All patients with PCOS presented clinical and biochemical evidence of hyperandrogenism with oligoovulation and/or ultrasonographic appearance of polycystic ovaries. PCOS was diagnosed according to the Rotterdam Criteria after excluding reasons such as: congenital adrenal hyperplasia, adrenal and ovarian tumors, hyperprolactinemia and hypo- hyperthyreosis. The following hormone concentrations were measured in each patient: total testosterone (TT), androstendione (A), dehydroepiandrosterone sulphate (DHEAS) and 17-hydroxyprogesterone (17-OHP). The patients were divided into 4 groups: I--eumenorrhoeic (n = 66), II--polymenorrhoeic (n = 32), III--oligomenorrhoeic (n = 93), IV--with secondary amenorrhea (n = 36). The control group consisted of 40 patients with normal regular menstrual cycles and no clinical/biochemical sings of hyperandrogenism. Statistical analysis was performed using one-way Anova and NIR test. P < 0.05 were considered to be statistically significant. RESULTS: The mean TT concentrations were as follows: Group I-- 0.91 +/- 0.56 ng/ml, II--0.91 +/- 0.22, III--0.91 +/- 0.48, IV--1.66 +/- 1.78 ng/ml; Androstendione: I-- 3.34 +/- 1.32, II--2.77+/- 0.75 ng/ml, III--3.28 +/- 1.00 ng/ml, IV--4.29 +/- 2.18 ng/ ml, 17-OHP: I--1.08 +/- 1.61 ng/ml, II-- 0.89 +/- 0.62ng/ml, III--0.94 +/ - 0.37 ng/ml; IV--1.68 +/-1.28 ng/ml and DHEAS: I--5.69 +/- 2.49 micromol/, II-- 6.11 +/- 3.11 micromol/l, III--6.04 +/- 3.00 micromol/l, IV-- 6.12 +/- 3.25 micromol/l respectively. The hormone concentrations in the control group were as follows: TT--0.58 +/- 0.35 ng/ml, A--2.33 +/- 0.52 ng/ml, 17-OHP--0.67 +/- 0.30 ng/ml, DHEAS--5.24 +/- 2.33 micromol/I. We found significantly higher TT A, 17-OHP concentrations in all PCOS subgroups than in the healthy subjects (p < 0.05). The PCOS group analysis revealed that all the mentioned hormone concentrations were significantly higher in women with secondary amenorrhea (group IV) than in the remaining 3 groups (p < 0.05). We found no significant difference in DHEAS concentrations between the study and the control group. CONCLUSIONS: Higher total testosterone, androstendione and 17-hydroxyprogesterone concentrations, longer menstrual cycles in women with PCOS.

[Evaluation of endometrial histologic morphology in patients with polycystic ovary syndrome]. / Ocena obrazów morfologicznych endometrium u pacjentek z zespolem policystycznych jajników.

AIM: To evaluate endometrial histologic morphology in patients with polycystic ovary syndrome. MATERIAL AND METHODS: 93 women, aged 18-35, who were hospitalized in the Gynaecologic Endocrinology Department of Warsaw Medical University due to PCOS have been qualified for the research. All patients had menstrual pattern of oligomenorrhoea and mean cycle length of 49 +/- 38 days. The control group consisted of 40 healthy women with regular menstrual cycles and no symptoms of hyperandrogenism. In case of each patient the fallowing data were analyzed: age, menarche age Body Mass Index and endometrium histologic findings. The endometrium was aspirated using the Pipelle probe. Statistic analysis was performed and the values of p < 0.05 were deemed statistically significant. RESULTS: No statistical significance was found between the age of the patients, their menarche age and BMI. Proliferative endometrium was significantly more often observed (p < 0.01) in patients with PCOS (64.52%) than in the control group (15%). Secretory endometrium was found in 23.65% of the examined patients. This result differed statistically from the 85% rate in the control group (p < 0.01). In case of PCOS patients, mixed type endometrium was found in 10 patients (10.75%) and simple endometrial hyperplasia without atypia was found in 1 patient (1.08%). CONCLUSIONS: (1) Lack of ovulation or late ovulation play a crucial role in endometrial cyclic transformation and its disorders. (2) The prolonged endometrial proliferation phase is a characteristic feature of women suffering from PCOS.