Selected CNR1 polymorphisms and hyperandrogenemia as well as fat mass and fat distribution in women with polycystic ovary syndrome.

The endocannabinoid system is postulated to play an important role in the etiology of obesity, insulin resistance, fat distribution and metabolic disorders. Insulin resistance associated with abdominal obesity plays a leading role in the etiology of hyperandrogenism and other clinical features of the polycystic ovary syndrome (PCOS). A total of 174 women 16-38 years old, diagnosed with PCOS according to the Rotterdam criteria are recruited. Control group consisted of 125 healthy women 18-45 years old. Medical history, physical examination, anthropometric parameters and metabolic parameters were carried out. Six CNR1 gene polymorphisms were diagnosed. We observed a significantly three times higher risk of GG genotype in the polymorphism rs12720071 in women with PCOS versus the control group (p = 0.0344, OR = 3.01). A similar, significant 8-fold higher risk (p = 0.0176, OR = 8.81) was demonstrated for genotype CC polymorphism rs806368 associated with PCOS. We observed a 3.6-fold increased risk of hyperandrogenemia (free androgen index - FAI > 7) in patients with GG genotype in the rs12720071 polymorphism and AA genotype in the polymorphism rs1049353 (OR = 2.7). Our study may indicate a role of the endocannabinoid system in the occurrence of a specific hyperandrogenemia phenotype of PCOS.

Selected neurologic disorders related to polycystic ovary syndrome.

Epilepsy is one of the most common neurologic disorders. The epileptic seizures as well as antiepileptic drugs may disturb the reproductive system function. Polycystic ovary syndrome occurs more commonly in women with epilepsy either treated or not with valproic acid. This article discusses the current knowledge about the relationships between epilepsy and polycystic ovary syndrome.

Psychiatric disorders related to polycystic ovary syndrome.

Polycystic ovary syndrome (PCOS) is a common endocrine disorder in women of reproductive age. The psychiatric disorders accompanying the clinical symptoms and hormonal abnormalities are important, but underestimated, aspects in PCOS. Obesity, hirsutism, acne, menstrual disturbances and infertility play important roles in lowering the quality of life in women with PCOS. Depression and anxiety are more often observed in patients with PCOS than in healthy women. Some authors consider that there is a relationship between valproic acid treatment of bipolar disease and PCOS. There have been reports that in women with PCOS anorexia nervosa, bulimia nervosa and other unspecified eating disorders are found more often than in the general population.

Pro12Ala PPAR γ2 gene polymorphism in PCOS women: the role of compounds regulating satiety.

UNLABELLED: Five to ten percent of women of reproductive age suffer from polycystic ovary syndrome (PCOS). Leptin, NPY, galanin, cholecystokinin (CCK) are involved in the regulation of eating behavior. PPARγ are receptors that are probably involved in hyperandrogenism. This study was designed to assess associations between the Pro12Ala PPARγ2 gene polymorphism and satiety factors in PCOS. Fifty-four PCOS women and 51 healthy women were studied. Leptin, NPY, galanin, CCK levels, and genetic studies to detect Pro12Ala PPARγ2 gene polymorphism were assessed. The leptin levels in the PCOS women carrying Pro12Ala genotype were higher than in those with Pro12Pro and Ala12Ala. The PCOS women had higher leptin and NPY levels and lower galanin levels. Obese PCOS patients had lower CCK levels. CONCLUSIONS: In the PCOS women, a single Ala allele may have a protective role as far as hyperleptinemia is concerned. The PCOS women may reveal a disrupted central leptin/NPY feedback loop with some shifts in food intake.

Pro12Ala PPAR gamma2 gene polymorphism in women with polycystic ovary syndrome.

INTRODUCTION: The pathogenesis of PCOS has not been definitively determined and includes a number of genes linked with steroidogenesis, regulation of gonadotropin secretion, actions of insulin, obesity as well as chronic inflammatory processes. Some authors indicate that PPARgamma play a role in insulin sensitivity and are probably involved in hyperandrogenism in PCOS. The aim of the study was to assess the frequency of the Pro12Ala and Pro115Gln PPARgamma2 gene polymorphisms in women with PCOS. SUBJECTS AND METHODS: 54 PCOS women and 51 healthy women were recruited. Genetic studies to detect Pro12Ala and Pro115Gln PPARgamma2 gene polymorphism were performed. RESULTS: In the whole studied group the Pro115Gln polymorphism of the PPARgamma2 gene was not found. The frequency of the Pro12Ala polymorphism was estimated at 26.47% in the controls and at 23.15% in the PCOS patients. Women from the control and PCOS groups with BMI > or = 30 had statistically higher occurrence of the Ala allele than women with BMI <30 (38.80% versus 12.50% and 38.23% versus 18.75%). CONCLUSIONS: The frequency of the Pro12Ala polymorphism observed in the sample of women from the Lower Silesian population was significantly higher than in the majority of European populations.

Hormonal abnormalities in first-degree relatives of women with polycystic ovary syndrome (PCOS).

INTRODUCTION: A body of evidence points to a familial aggregation of hormonal abnormalities in first-degree relatives of women with polycystic ovary syndrome (PCOS). The aim of this study was to determine whether siblings of women with PCOS had evidence of hormonal abnormalities typical of PCOS. MATERIAL AND METHODS: Eighty-six siblings of women with PCOS (44 sisters, 42 brothers) were recruited. Two control groups consisted of 70 healthy women and 30 healthy men. Anthropometric, hormonal (testosterone, androstenedione, DHEA-S, LH, FSH) parameters and SHBG were assessed in all subjects. RESULTS: Mean testosterone and DHEA-S levels were higher in sisters of women with PCOS than in the control women. In eight of the 44 (18.2%) sisters, a diagnosis of PCOS was made. Mean testosterone and androstenedione levels, and free androgen index (FAI) were significantly higher in sisters with PCOS compared to the sisters without PCOS. Brothers of women with PCOS had higher DHEA-S level than the control men. Eleven of the 42 (26.2%) brothers had alopecia occurring before the age of 30. Prematurely balding brothers did not differ from the non-balding brothers in hormonal parameters. CONCLUSIONS: Siblings of women with PCOS are predisposed to hormonal abnormalities typical of PCOS. The symptom of premature balding under the age of 30 in brothers of women with PCOS should not be considered as a male PCOS equivalent.

Cardiopulmonary functional capacity and the role of exercise in improving maximal oxygen consumption in women with PCOS.

Polycystic ovary syndrome (PCOS) is one of the most common reproductive disorder in premenopausal women and is frequently accompanied by the presence of cardiovascular risk factors. It has also been recognized that PCOS women are characterized by cardiopulmonary impairment. Reduced cardiopulmonary functional capacity and the autonomic dysfunction associated with abnormal heart rate recovery might be responsible for the increased cardiovascular risk in patients with PCOS. Exercise training has beneficial effects on cardiopulmonary functional capacity and reduces the risk of cardiovascular disease in PCOS women.

The role of chronic inflammation and Leu55Met PON1 polymorphism in the pathogenesis of polycystic ovary syndrome.

INTRODUCTION: Polycystic ovary syndrome (PCOS) is an endocrine disorder with a complex pathogenesis in which hormonal disturbances, metabolic disorders and chronic inflammation have been considered. Relationships among the paraoxonase 1 (PON1) gene, hyperandrogenism and insulin resistance in women with PCOS have been reported. AIM: The aim of this study was to evaluate patients with PCOS for the existence of chronic inflammation and to assess the relationship between PON1 polymorphism and hormonal, metabolic and inflammatory parameters in these women. MATERIAL AND METHODS: One hundred thirty women with PCOS and 70 healthy women were studied. Anthropometric, hormonal (total testosterone, androstenedione, DHEA-S, LH, FSH), metabolic (fasting glucose and insulin, oral glucose tolerance test, insulin sensitivity and resistance indices, lipids) and inflammatory parameters (hsCRP, fibrinogen, WBC) were assessed and analysis of PON1 Leu55Met polymorphism was carried out in all subjects. RESULTS: WBC, fibrinogen and hsCRP levels did not differ significantly between the PCOS and control groups. The genotype frequencies of the Leu55Met PON1 polymorphism were similar in both groups. There were no relationships between PON1 genotypes and metabolic parameters. CONCLUSIONS: As chronic low-grade inflammation was not observed in the women with PCOS, there is no direct link between inflammation and PCOS markers per se. None of the variants of the Leu55Met PON1 polymorphism was associated with more frequent occurrence of PCOS or metabolic disorders, including insulin resistance.

[Pheochromocytoma in 8-year observation at a single endocrinological center in Wroclaw]. / Guz choromochlonny w 8-letniej obserwacji akademickiego osrodka endokynologicznego we Wroclawiu

INTRODUCTION: Pheochromocytoma is rare tumor with a highly variable clinical presentation. This report provides clinical picture, efficiency of diagnostics and treatment of pheochromocytoma in 8-years in the endocrinological center in Wroclaw. MATERIAL AND METHODS: The records of 37 patients with pheochromocytoma were identified, who were treated in 2000-2007 in the Department of Endocrinology, Diabetology and Isotope Treatment in Wroclaw. There were 23 women (age 23-75 year) and 14 men (age 17-74). We studied frequency of clinical signs, usefulness of diagnostic methods and efficacy of treatment. RESULTS: The duration of the clinical history ranged from 2 months to 16 years. The most frequent symptoms were: hypertension paroxysmal and constant, palpitations, headache, sweating and anxiety. The most sensitive diagnostic method was increased concentration of urinary metanephrine in 24-hour urine. Computed tomography was the most widely used method for tumor localization. Adrenal pheochromocytoma was detecting by CT in all patients, predominated in right adrenal, in 1 case in urinary bladder. Surgery caused remission of hypertension in 59%, improvement in 26.8%, and no changes in 13.9% of patients. Malignancy was reported in 2 cases, 1 woman died after surgery. MEN 2A occur in 21.6%. CONCLUSIONS: The diagnosis of pheochromocytma is usually made after long duration of the disease. The study confirms that clinical presentation of pheochromocytoma is variable and nonspecific, this finding makes the diagnosis very difficult. The most typical symptom is paroxysmal hypertension, which is present only in 40%, other symptoms are nonspecific. The measurement of 24-hour urinary metanephrines was the best indicator. CT was almost always successful in localizing the tumor. Patients with pheochromocytoma should be consider for other endocrine diseases especially medullary carcinoma, primary hyperparathyroidism and other component of MEN 2A.