Bakgrund: Runt 5-10 % av kvinnor i fertil ålder har en diagnos av polycystiskt ovariesyndrom men ännu fler lider av syndromet utan en diagnos. Polycystiskt ovariesyndrom innebär att en kvinnas ena eller båda äggstockar är fyllda med cystor och att hon har en hormonstörning. Kosthållning har en betydande effekt på hur syndromet visar sig. Syfte: Se vad olika kostmetoder har för effekter på kvinnor med polycystiskt ovariesyndrom och vilken metod som är bäst. Metod: En litteraturstudie som analyserar tio vetenskapliga artiklar i fyra olika teman. Resultat: En hög-proteinkost, en kosthållning med lågt GI och ökad fysisk aktivitet ger alla tre positiva effekter på syndromet. En fettsnål kost ger mer negativa effekter än vad en fettrik kost ger. Studien visar att viktminskning också förbättrar syndromet. Slutsats: Mer forskning behövs om olika kostmetoders effekter på kvinnor med polycystiskt ovariesyndrom i större studiepopulationer och olika kostmetoder har olika effekter på hur polycystiskt ovariesyndrom visar sig. / Background: About 5-10 % of women in fertile age have been diagnosed with polycystic ovary syndrome diagnosis with many other women also having polycystic ovary syndrome without diagnoses. Polycystic ovary syndrome is a disease where a woman’s ovaries are filled with cysts, along with related hormonal disorders. Diets can help reduce the symptoms of this syndrome. Aim: See how various dietary approaches impacts on women with polycystic ovary syndrome and to see which approach is the best. Method: A literature review that analyzes ten different scientific articles. Four major themes were extracted from this review. Results: A high-protein diet, a diet with low GI and increased physical activity are three different approaches that are show to provide positive effects in people who suffer from this syndrome. Low-fat diets did not show positive effects. The study shows that the syndrome also becomes better with a weight loss. Conclusion: More research is needed on the various dietary approaches effects on women with polycystic ovary syndrome in larger study populations to identify the effects of different dietary approaches.

Background: The progesterone metabolite allopregnanolone is involved in several clinical conditions in women, e.g. premenstrual dysphoric disorder. It is a very potent GABA-steroid with GABA-A receptor effects similar to other GABA-agonists, e.g. benzodiazepines, and it causes sedation. An objective way to examine effects on the GABA-A receptor in humans is to measure saccadic eye velocity (SEV), which is reduced by GABA-agonists, e.g. allopregnanolone. Animal studies suggest that allopregnanolone is involved in the regulation of gonadotropin secretion via the GABA-A receptor, but this has not been studied in humans. Polycystic ovary syndrome (PCOS) is the most common endocrine disturbance among women of fertile age (5–10%), characterized by polycystic ovaries, menstrual dysfunction, hyperandrogenity, and 50% have obesity. Studies have shown higher allopregnanolone levels in overweight people. PCOS women have increased levels of androstanediol, an androgen metabolite which is an GABA-A receptor agonist. Tolerance often occurs when persons are exposed to high levels of GABAergic modulators. It has not been studied whether GABA-A receptor sensitivity in PCOS women is changed. Another progesterone metabolite, isoallopregnanolone, is the stereoisomere of allopregnanolone but has not been shown to have any GABA-A receptor effect of its own. Instead it has often been used to control steroid specificity to allopregnanolone. Aims: To compare the effects of allopregnanolone and isoallopregnanolone on gonadotropin secretion. To compare allopregnanolone levels, GABA-A receptor sensitivity to allopregnanolone and effects on gonadotropin secretion in both cycle phases and PCOS conditions. To examine pharmacokinetics and pharmacodynamic properties for isoallopregnanolone. Method: In the follicular phase healthy women were examined for the effect of allopregnanolone or isoallopregnanolone on gonadotropin secretion. PCOS women and healthy women in both cycle phases were given allopregnanolone and the differences in effects on SEV were examined, as well as changes in serum levels of gonadotropins and allopregnanolone at baseline and during the test day. Pharmacokinetics and GABA-A receptor sensitivity using SEV were explored for isoallopregnanolone in healthy women. Results: Allopregnanolone decreases gonadotropin serum levels in healthy controls in both cycle phases, but has no effect on gonadotropin secretion in women with PCOS. PCOS women have higher baseline serum levels of allopregnanolone than follicular phase controls, but lower levels than luteal phase controls. PCOS women show greater reduction in SEV to allopregnanolone than controls. Isoallopregnanolone has no effect on gonadotropin secretion. There is an effect of isoallopregnanolone on SEV, explained by a metabolism of isoallopregnanolone into allopregnanolone. Conclusion: There are significant differences in the GABA-A receptor response to a GABA-steroid in different endocrine conditions in women of fertile age examined with saccadic eye velocity. The GABA-steroid allopregnanolone decreases gonadotropin serum levels in healthy women but not in PCOS women. The lack of effect on gonadotropins by isoallopregnanolone suggests an involvement of the GABA-A receptor.

Polycystic ovary syndrome (PCOS) is one of the most common and complex endocrinopathies among reproductive-aged women. Symptom heterogeneity among clinical cases and in sibling studies suggests that PCOS is a multifactorial disease with environmental components. Investigators hypothesize that endocrine disruptors may contribute to the pathophysiological origins of PCOS in utero. The goal of this literature review is to present and compare the available research investigating the developmental origins of PCOS deriving from prenatal exposure to three major classes of endocrine disruptors: bisphenol A (BPA), phthalates, and androgenic endocrine disruptors. Considerable evidence has been found to suggest links between fetal exposure to endocrine disruptors and PCOS. Rodent studies reported that maternal BPA exposure dysregulates postnatal development and sexual maturation. In rats, gestational exposure to dibutyl phthalate (DBP) and di(2-ethylhexyl)phthalate (DEHP) resulted in polycystic ovaries among first and third generation offspring. Additionally, serum DBP concentrations are higher among women with PCOS. Regarding DEHP, animal studies have shown that prenatal exposure results in an endocrinological profile similar to PCOS. Nicotine and 3,4,4'-trichlorocarbanilide (TCC) are known androgenic endocrine disruptors. Inducing prenatal exposure to excess androgens in animal models has successfully recreated a PCOS-like phenotype that includes abnormal ovarian function, anovulatory cycling, impaired fertility, and increased visceral fat distribution. Based on the literature, endocrine disruptors appear to have an etiological role in PCOS development through prenatal exposure and thus may pose one of the greatest hazards to fetal health and development.

Polycystic ovary syndrome is a complex, heterogeneous disease that affects 5-10% of reproductive-aged women. It is characterized by clinical or biochemical hyperandrogenism, oligo-anovulation, and polycystic ovary morphology. Instigating endocrine findings include aberrantly rapid gonadotropin-releasing hormone pulsatile secretion, elevated luteinizing hormone, sub-optimal levels of follicle-stimulating hormone, and hyperandrogenism. Metabolic symptoms are also present including hyperinsulinemia, insulin resistance, and dyslipidemia. These endocrine and metabolic findings are also accompanied by ovarian dysfunction and improper folliculogenesis. Because aberrant functioning of the hypothalamic-pituitary-gonadal axis is central to the pathophysiology of polycystic ovary syndrome, it is beneficial to examine it for abnormalities. Polycystic ovary syndrome has been shown to have both genetic and environmental components. Its strong genetic component has been demonstrated in twin studies, family association studies, candidate gene studies, and genome-wide association studies. Previous genome-wide association studies have found many candidate genes including those for DENND1A (differentially expressed in normal and neoplastic cells domain containing 1A), THADA (thyroid adenoma-associated protein), FSHR (follicle-stimulating hormone receptor), and LHR (luteinizing hormone receptor). This, together with the central endocrine abnormalities, prompted this review on polymorphisms of receptors of the hypothalamic-pituitary-gonadal axis, including those for gonadotropin-releasing hormone, luteinzing hormone, follicle-stimulating hormone, estrogen, and progesterone, as well as anti-müllerian hormone. Studies on single-nucleotide polymorphisms of these receptors were found on PubMed, Web of Science, and Google Scholar and subsequently analyzed. Many different single-nucleotide polymorphisms were studied, but only a handful of them have been subjected to repeated studies. Only rs2293275 of the luteinizing hormone receptor and rs2349415 of the follicle-stimulating hormone receptor, both at 2p16.3, were found to have a possible role in the etiology of polycystic ovary syndrome, but all eight were found to have a possible phenotypic role: rs13405728, rs2293275, and rs4539842 of the luteinizing hormone receptor; rs6165, rs6166, rs2268361, and rs2349415 of the follicle-stimulating hormone receptor; and rs2002555 of the anti-müllerian hormone receptor. The limitations most affecting the results of these studies include small sample sizes, heterogeneous study populations, lack of generalizability due to ethnicity, and lack of control or adjustment for confounders. It is necessary to develop a standardized study protocol and separate polycystic ovary syndrome patients based on phenotype in order to obtain stronger results in the future.

Orientador: Silvia Regina Rogatto / Banca: Ilce Mara de Syllos Colus / Banca: Maria Inês M. Campos Pardini / Resumo: A Síndrome do Ovário Policístico (SOP) é uma doença heterogênea que acomete principalmente mulheres em idade reprodutiva e é caracterizada por alterações clínicas como hiperandrogenismo, anovulação crônica e irregularidades menstruais e metabólicas, como resistência insulínica, obesidade, hiperlipidemia e diabetes mellitus tipo 2. Esta síndrome está associada com o risco aumentado de desenvolvimento de doenças cardiovasculares e tromboembólicas. A síndrome HAIR-AN possui manifestações clínicas semelhantes a SOP, porém por critérios de classificação atuais, compõe diagnóstico diferencial apresentando resistência insulínica severa e hiperandrogenismo. Considerando o fenótipo heterogêneo destas patologias, polimorfismos em genes da via de esteróides e da insulina podem estar associados com hiperandrogenismo e hiperinsulinemia. Foram genotipadas para os polimorfismos nos genes ER-α, ER-β, INSR, IGF2 e PAI-1 41 mulheres com fenótipo SOP, 16 com fenótipo HAIR-AN e 49 controles livres da doença. As regiões polimórficas dos genes ER-α e ER-β foram submetidas a análise automatizada no seqüenciador ABI Prism 377 DNA Sequencer para determinação do número de repetições [TA]n e [CA]n, respectivamente. Os alelos foram classificados em curtos ou longos (ER-α - alelos curtos: <15 e longos ≥15 repetições; ER-β - os alelos curtos: ≤22 e longos >22 repetições). A genotipagem de INSR e IGF2 contendo os polimorfismos C/T e A/G, respectivamente, foi realizada por PCR-RFLP com as enzimas de restrição PmlI e ApaI, respectivamente. Para a observação do polimorfismo 5G/4G do gene PAI-1, utilizou-se a técnica de PCR-SSCP e seqüenciamento direto. Não foram observadas diferenças estatísticas significativas entre os genótipos dos genes ER-α, ER-β, INSR, IGF2 e PAI-1 entre casos e controles... (Resumo completo, clicar acesso eletrônico abaixo) / Abstract: Polycystic Ovary Syndrome (PCOS) is a heterogeneous disorder which is common in reproductive age women and characterized by reproductive and clinical manifestations as hyperandrogenism, anovulatory infertility, increased ovarian secretion, and hyperinsulinaemia, as insulin resistance, type 2 diabetes mellitus, and obesity. The PCOS have been associated with increased risk for development cardiovascular and thromboembolic events. The syndrome of hyperandrogenism, insulin resistance, and acanthosis nigricans (HAIR-AN syndrome) was included in the PCOS subset. However, actually HAIR-AN syndrome shows a differential diagnosis with severe insulin resistance and hyperandrogenism. Genetic polymorphisms in insulin action and steroid pathways genes can be associated with hyperinsulinaemia and hyperandrogenism in PCOS and HAIR-AN patients. The ER-alfa, ER-ß, INSR, IGF2, and PAI-1 genes polymorphisms were evaluated in 41 women with PCOS, 16 women with HAIR-AN, and 49 disease-free control women. The ER-alfa and ER-ß genes polymorphisms were investigated by automated analysis (ABI Prism 377 DNA Sequencer) to determine the [TA]n and [CA]n repeats number, respectively. The alleles were classified as short and long (ER-alfa: <15 and .15 repeats, respectively; and ER-alfa: .22 and >22 repeats, respectively). The INSR and IGF2 genes polymorphisms (C/T and A/G, respectively) were performed by PCR-RFLP methodology using the PmlI and ApaI restriction enzymes, respectively. The PAI-1 gene polymorphisms (5G/4G) were detected by PCR- SSCP and direct sequencing methodologies. No statistical differences were observed between cases and controls for all genes analyzed. However, the comparison between clinical and laboratorial data with the genotypes showed statistical differences (p<0,05). The grouped polymorphisms analysis performed by NeoGene Analysis software defined genotypic classes that can be associated with pathophysiology of the PCOS. / Mestre

Common features of polycystic ovary syndrome (PCOS), including hyperandrogenism, ovarian dysfunction and obesity, can be highly distressing. We compared 40 women with PCOS to women with infertility but not PCOS, and to women with neither PCOS nor infertility, on measures of depression and body image. Women with PCOS reported higher depression scores and greater body dissatisfaction (p < .001) than comparison group women. Body image was strongly associated with depression overall, even after controlling body mass. Among women with PCOS, body dissatisfaction measures and education explained 66 percent of the variance in depression, suggesting explanations of the PCOS-depression link should consider the role of potentially mediating psychosocial variables.

BACKGROUND: Polycystic ovary syndrome (PCOS), a diagnosis of exclusion, is considered the most common endocrinopathy in females of reproductive age. Current cohorts of individuals with PCOS exist but are limited, specifically in racial/ethnic diversity, due to the complexity of multiple choice survey questions and difficulty to obtain data. METHODS: After examining existing cohorts and their questionnaires, an online survey was designed specifically to assess PCOS characteristics in a diverse population. The survey was field tested for cognitive understanding and usability in a diverse population, with respect to race/ethnicity and education. After cognitive testing, the survey was launched online and participants were recruited to complete the survey. Survey completion rates by level of education, race/ethnicity, and birthplace were established by determining the proportion of participants in each subgroup to complete the entire survey. We also looked at the average percentage of the survey participants in each subgroup completed before discontinuing the survey. Univariate regression analyses were performed to evaluate these results. Question comprehension was determined by evaluating all survey questions by length and complexity. The survey question asking participants to report their typical menstrual cycle length (MCL) was selected to assess participants’ question comprehension. Responses that fell outside of the normal range for MCL were examined and those that may have been inaccurate were isolated. Level of education and birthplace reported by participants who may have responded to the MCL question inaccurately were noted and assessed collectively. RESULTS: Two-hundred and forty-eight participants, aged 18-53 years, began the survey between August 9, 2017 and October 23, 2017. Of these participants, 71.7% identified as White; 11.7% as Hispanic, Latina, or of Spanish Origin; 12.6% as Black or African American; 13.2% as other races/ethnicities; and 9.2% as more than one race/ethnicity. Of the participants with some high school education, a high school diploma, or a GED, 74% completed the entire survey; of those with some college education or a 2-year degree, 81% completed the entire survey; and of those with a 4-year college degree or more, 90% completed the entire survey. On average, participants with a high school education completed 86% of the survey before discontinuing; those with some college education completed 91% of the survey before discontinuing; and those with a college degree or more completed 95% of the survey before discontinuing. Of the participants who identified as White, 92% completed the entire survey; of those who identified as Hispanic, Latina, or of Spanish Origin, 68% completed the entire survey; and of those who identified as Black or African American, 70% completed the entire survey, with statistical significance (p = 0.002). On average, participants who identified as White completed 96% of the survey before discontinuing; those who identified as Hispanic, Latina, or of Spanish Origin completed 82% of the survey before discontinuing; and those who identified as Black or African American completed 86% of the survey before discontinuing, with statistical significance (p = 0.002). Of the participants who were born in the United States, 92% completed the entire survey, and of the participants who were not born in the United States, 66% completed the entire survey, with statistical significance (p < 0.0001). On average, participants who were born in the United States completed 96% of the survey before discontinuing and participants who were not born in the United States completed 81% of the survey before discontinuing, with statistical significance (p < 0.0001). When asked to report their typical MCL, 66 participants (28.1%) responded with irregular answers and 20 (8.5%) may have responded inaccurately. Of these 20 participants, 18 (90%) completed at least some amount of college and 16 (80%) were born in the United States. DISCUSSION: This pilot study succeeds in establishing a cohort that is more racially/ethnically diverse than existing cohorts of individuals with PCOS. In order to gather more information on the ways in which PCOS manifests across different groups, future recruitment efforts ought to be more targeted towards individuals belonging to different racial/ethnic groups and socioeconomic statuses. Additionally, the baseline survey and future modules can be made more accessible to diverse groups through language translation. Furthermore, the addition of a menstrual cycle tracker component to the survey may increase the accuracy of information on participants’ menstrual cycle patterns.

Background: Polycystic ovary syndrome (PCOS) affects 6-10% of women and has a range of impacts on women’s reproductive, psychological, metabolic, and cardiovascular health. A lifelong condition, symptoms of PCOS may start in adolescence and extend into post-menopause. Despite being such a pervasive disorder, with significant burden of disease for some women, it may be underrecognized within the medical and general communities. Recent studies suggest that women with PCOS may not be diagnosed early or receive appropriate guidance and information from physicians. Little is known about women’s experiences in Canada. This thesis explores experiences with diagnosis and management in Canada and assesses the barriers and facilitators women face while seeking care for their condition. Methods: Research questions were addressed using a multi-methods approach. Participants were recruited from online PCOS groups on Facebook, Reddit, and stand-alone PCOS forums. An online questionnaire measured participants’ time to diagnosis, number of doctors seen, and satisfaction with information provided. Descriptive statistics, Chi-square tests, Fisher’s exact tests, and Spearman’s rank correlations assessed characteristics of the sample and correlations between demographic factors and satisfaction measures. Twenty-five follow-up interviews were held over the phone to elicit greater richness of experiences. Qualitative data were analyzed using thematic analysis and the interpretive description framework. Results: The e-survey was completed by 296 women aged 18-60 with a self-reported diagnosis of PCOS. Approximately a third (34%) of respondents waited for more than 2 years before attaining a diagnosis and 41% saw 3 or more doctors. Most participants were dissatisfied with the information provided to them about PCOS (66%). Many did not receive any information about lifestyle management (42%) or medical therapy (28%). Barriers to diagnosis and management included lack of knowledge and/or concern in physicians. Women received insufficient information about PCOS implications (including mental health) at the diagnosis and subsequent visits. Few participants had physicians who were involved with PCOS management. Peri- and post-menopausal women especially lacked support and medical information on how to manage symptoms. Facilitators to diagnosis and management included self-education, self-advocation, and social support. Women identified a need for greater PCOS awareness in primary care physicians and the general community. Few women had heard of PCOS prior to their diagnosis. Conclusion: This thesis found delays to diagnoses and dissatisfaction in women around the care and information they received from doctors. Perceived lack of knowledge and engagement in physicians resulted in most barriers to diagnosis and management. Few participants had physicians whom they could rely upon for information and guidance. Greater awareness of PCOS is needed in the medical community, particularly in primary care. Women and girls may benefit from greater PCOS awareness early in life in health class at the elementary and/or secondary levels.

Résumé : Le syndrome des ovaires polykystiques (SOPK) affecte 6-10% des femmes en âge de procréer et est la principale cause d’infertilité anovulatoire. Cette condition est principalement caractérisée par une hyperandrogénie provenant des ovaires et des glandes surrénales. De plus en plus d’études, à la fois in vivo et in vitro, indiquent qu’une surexposition ovarienne en gras, de même que les mécanismes lipotoxiques subséquents pourraient causer l’hyperandrogénie chez ces femmes. Ainsi, cette étude vise à 1) évaluer l’implication des gras et de l’inflammation folliculaire dans la production des androgènes ovariens par une étude de corrélation; et 2) comparer les niveaux folliculaires de gras, métabolites lipidiques et marqueurs inflammatoires entre les femmes SOPK et non-SOPK. Cette étude transversale a recruté 80 femmes en cours de fécondation in vitro. Treize étaient SOPK, 58 étaient non-SOPK et 9 avaient un diagnostic incertain. Les participantes au projet avaient un âge moyen de 33 ± 4 ans. Tout groupe confondus, les niveaux folliculaires de testostérone corrélaient avec les gras (r=0,381; P=0,001; indépendamment de l’IL-6), les acylcarnitines (r≥0,255; tout P=0,008; non indépendamment des gras) et l’IL-6 (r=0,300; P=0,009; indépendamment des gras). De plus, les niveaux folliculaires de gras corrélaient avec les acylcarnitines (r≥0,594; tout P<0,001). Lorsque comparées aux femmes non-SOPK, les femmes SOPK étaient plus obèses (BMI: 31,2 vs. 25,1 kg/m2; P=0,009) et avaient des niveaux folliculaires plus élevés de testostérone (12,9 vs. 0,29 nM; P=0,001), de gras (P=0,001), d’acylcarnitines (tout P=0,001) et du marqueur inflammatoire IL-6 (13,0 vs. 8.6 pg/mL; P=0,018), le tout indépendamment de l’IMC. Les résultats suggèrent qu’une exposition intra-ovarienne en gras pourrait contribuer à une augmentation de la production des androgènes. Les mécanismes pourraient inclure une β-oxydation insuffisante, illustré par des acylcarnitines élevés, menant à l’accumulation de métabolites lipidiques toxiques, et une inflammation ovarienne, possiblement suite à une infiltration de macrophages. Ces deux mécanismes semblent être indépendants. De plus, l’environnement ovarien des femmes SOPK est caractérisé par une élévation des gras, de métabolites lipidiques et de marqueurs inflammatoires. Il peut donc être proposer que l’hyperandrogénie caractéristique du SOPK soit causée en partie par la lipotoxicité. // Abstract : Polycystic ovary syndrome (PCOS) affects 6-10% of the women of childbearing age and is the main cause of anovulatory infertility. It is mainly characterised by hyperandrogenism that can originate from the adrenal gland and the ovaries. A growing number of evidences, either in vivo or in vitro, points toward an overexposition to fat and lipotoxic mechanisms (lipid induced cellular toxicity) as the cause of PCOS hyperandrogenesis. Therefore, we aimed to: 1) evaluate the implication of follicular fluid (FF) levels of fat and inflammation markers in the ovarian production of androgens through a correlation analysis; and 2) compare FF levels of lipids, lipid metabolite levels and inflammation markers between PCOS and non-PCOS women. This cross-sectional controlled study was performed with 80 women undergoing an IVF procedure. Among them, 13 were PCOS, 58 were non-PCOS and 9 had an uncertain diagnosis. Participants were aged 33 ± 4 years old and had an average body mass index (BMI) of 25.7 ± 6.2. When analysing all women, follicular levels of testosterone correlated significantly with fat (NEFA + triglycerides) (r=0.381; P=0.001; independently of l’IL-6), acylcarnitines (r≥0.255; all P=0.008; not independently of fat) and l’IL-6 (r=0.300; P=0.009; independently of fat). Moreover, follicular levels of fat significantly correlated with acylcarnitines (r≥0.594; all P<0.001). When compared to non-PCOS women, PCOS women were significantly more obese (BMI: 31.2 vs. 25.1 kg/m2, P=0.009) and had significantly higher follicular levels of testosterone (12.9 vs. 0.29 nM, P=0.001), fat (P=0.001), acylcarnitines (all P=0.001) and inflammatory marker IL-6 (13.0 vs. 8.6 pg/mL, P=0.018), everything independently of BMI. Our results suggest that intra-ovarian exposure to fat may be responsible for the increased production of androgens. Mechanisms are likely to include an insufficient β-oxidation, leading to the accumulation of toxic lipid metabolites, and ovarian inflammation, possibly through macrophage infiltration. Both these mechanisms seem independent of one another. Also, intra-ovarian environment of PCOS women are characterized by increased levels of fat, acylcarnitines and inflammatory marker. It can thus be proposed that lipotoxic mechanisms are responsible for the increased production of androgen that is characteristic of PCOS women.

Το σύνδρομο πολυκυστικών ωοθηκών (PCOS) αποτελεί την πιο συχνή ενδοκρινολογική διαταραχή των γυναικών αναπαραγωγικής ηλικίας που χαρακτηρίζεται από κεντρικού τύπου παχυσαρκία, ακμή, υπερτρίχωση και διαταραχές των εμμηνορησιακών κύκλων που οφείλονται στην υπερανδρογοναιμία και την χρόνια ανωοθυλακιορρηξία. Οι γυναίκες με PCOS αναπτύσσουν και μεταβολικού τύπου διαταραχές όπως η υπερινσουλιναιμία λόγω αντίστασης στην ινσουλίνη, η υπέρταση, ο σακχαρώδης διαβήτης, η δυσλιπιδαιμία και το μεταβολικό σύνδρομο. Τα τελευταία χρόνια γίνονται πολλές γενετικές μελέτες προκειμένου να προσδιορισθούν οι μοριακοί γενετικοί μηχανισμοί που εμπλέκονται στην παθογένεια του ΣΠΩ. Ένας σημαντικός ρυθμιστής της ωοθυλακιογένεσης που πιθανόν να παίζει ρόλο στην παθοφυσιολογία του ΣΠΩ είναι η αντιμυλλεριανική ορμόνη (ΑΜΗ). Eντός του εξωνίου 1 του γονιδίου της ΑΜΗ εδράζεται ο πολυμορφισμός Ιle49Ser (ref SNPID:rs10407022) που συνίσταται στην αλλαγή μιας βάσης θυμίνης (T) από γουανίνη (G) δημιουργώντας τρεις γονότυπους: ομοζυγώτες GG, oμοζυγώτες TT, ετεροζυγώτες GT. Δεδομένου του ρόλου της ΑΜΗ στην παθοφυσιολογία του συνδρόμου των πολυκυστικών ωοθηκών αλλά και της ενδεχόμενης χρήσης της ως διαγνωστικό και προγνωστικό δείκτη του συνδρόμου, ο πολυμορφισμός Ιle49Ser έχει καταστεί αντικείμενο μελέτης. Στην παρούσα μελέτη προσδιορίστηκε ο πολυμορφισμός Ιle49Ser σε 111 γυναίκες με ΣΠΩ και 67 υγιείς μάρτυρες . Από τη στατιστική ανάλυση δεν προέκυψε κάποια στατιστικά σημαντική διαφορά στη συχνότητα των γονοτύπων του πολυμορφισμού Ile49Ser του γονιδίου της ΑΜΗ ανάμεσα στις γυναίκες με ΣΠΩ και του υγιούς πληθυσμού ελέγχου. Από τη στατιστική ανάλυση, επίσης, δεν προέκυψε συσχέτιση των γονοτύπων με κάποια από τις ορμονικές ή κλινικές παραμέτρους των γυναικών με ΣΠΩ. Η απουσία συσχέτισης του πολυμορφισμού Ile49Ser με αυξημένο κίνδυνο για ΣΠΩ δείχνει ότι το σηματοδοτικό μονοπάτι της ΑΜΗ εμπλέκεται στην παθογένεια του συνδρόμου με έναν έμμεσο τρόπο. Ωστόσο περισσότερες μελέτες είναι απαραίτητες προκειμένου να διαλευκανθεί ο ρόλος της ΑΜΗ στην ανθρώπινη ωοθυλακιογένεση, όπως και στην παθοφυσιολογία του συνδρόμου των πολυκυστικών ωοθηκών. / The polycystic ovary syndrome (PCOS) is the most common endocrine disorder of women of reproductive age, characterized by central obesity, acne, hirsutism and disorders of menstrual cycles due to hyperandrogonemia and chronic anovulation. Women with PCOS develop type and metabolic disorders such as hyperinsulinemia due to insulin resistance, hypertension, diabetes mellitus, dyslipidemia and metabolic syndrome. Over the last decade there are an increasing number of studies conducted in order to identify the molecular genetic mechanisms that are involved in the pathogenesis of PCOS. AMH seems to be an important regulator of follicle development and may also play a significant role in the pathogenesis of PCOS. The polymorphism Ile49Ser (ref SNPID:rs10407022) is located in exon 1 of AMH gene and results from the conversion of thymine (T) to guanine (G) giving three genotypes: homozygotes TT, GG and heterozygotes GT. Taken as granted the role of AMH in the pathophysiology of PCOS and the possible use of AMH levels as a diagnostic and prognostic marker of the syndrome, recent studies concern the involvement of IIe49Ser polymorphism. The precent study identified the polymorphism Ile49Ser in a cohort of 111 women with PCOS and 67 controls. Genotype frequencies for the AMH Ile49Ser polymorphism were similar in PCOS women and controls. In addition, AMH Ile49 Ser variant was not associated with clinical or hormonal parameters of PCOS women. The absence of an association of AMH Ile49Ser polymorphism with susceptibility to PCOS indicates that the AMH signaling pathway is not directly involved in the pathophysiology of PCOS. More studies should be carried out in order to determine the role of AMH in human ovarian physiology.