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  • Abstract: adrenarche x
  • Abstract: amenorrhoea x
  • Abstract: fertility x
  • Abstract: Gender x
  • Abstract: Hypogonadism x
  • Abstract: infertility x
  • Abstract: Klinefelter x
  • Abstract: menarche x
  • Abstract: testes x
  • Abstract: transsexual x
  • Abstract: Turner x
  • Abstract: sperm* x
  • Abstract: ovary x
  • Abstract: follicles x
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Neil R Chappell Reproductive Endocrinology and Infertility Division, Department of Obstetrics and Gynecology, Baylor College of Medicine and Family Fertility Center, Texas Children’s Hospital, Houston, Texas, USA

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Beth Zhou Reproductive Endocrinology and Infertility Division, Department of Obstetrics and Gynecology, Baylor College of Medicine and Family Fertility Center, Texas Children’s Hospital, Houston, Texas, USA

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Amy K Schutt Reproductive Endocrinology and Infertility Division, Department of Obstetrics and Gynecology, Baylor College of Medicine and Family Fertility Center, Texas Children’s Hospital, Houston, Texas, USA

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William E Gibbons Reproductive Endocrinology and Infertility Division, Department of Obstetrics and Gynecology, Baylor College of Medicine and Family Fertility Center, Texas Children’s Hospital, Houston, Texas, USA

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Chellakkan S Blesson Reproductive Endocrinology and Infertility Division, Department of Obstetrics and Gynecology, Baylor College of Medicine and Family Fertility Center, Texas Children’s Hospital, Houston, Texas, USA

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Polycystic ovary syndrome (PCOS) is the most common ovulatory defect in women. Although most PCOS patients are obese, a subset of PCOS women are lean but show similar risks for adverse fertility outcomes. A lean PCOS mouse model was created using prenatal androgen administration. This developmentally programmed mouse model was used for this study. Our objective was to investigate if mitochondrial structure and functions were compromised in oocytes obtained from lean PCOS mouse. The lean PCOS mouse model was validated by performing glucose tolerance test, HbA1c levels, body weight and estrous cycle analyses. Oocytes were isolated and were used to investigate inner mitochondrial membrane potential, oxidative stress, lipid peroxidation, ATP production, mtDNA copy number, transcript abundance and electron microscopy. Our results demonstrate that lean PCOS mice have similar weight to that of the controls but exhibit glucose intolerance and hyperinsulinemia along with dysregulated estrus cycle. Analysis of their oocytes show impaired inner mitochondrial membrane function, elevated reactive oxygen species (ROS) and increased RNA transcript abundance. Electron microscopy of the oocytes showed impaired mitochondrial ultrastructure. In conclusion, the lean PCOS mouse model shows a decreased oocyte quality related to impaired mitochondrial ultrastructure and function.

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Dorte Glintborg Department of Endocrinology and Metabolism, Odense University Hospital, Odense, Denmark

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Magda Lambaa Altinok Department of Endocrinology and Metabolism, Odense University Hospital, Odense, Denmark

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Pernille Ravn Department of Gynecology and Obstetrics, Odense University Hospital, Odense, Denmark

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Kurt Bjerregaard Stage Department of Psychiatry, Odense University Hospital, Odense, Denmark

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Kurt Højlund Department of Endocrinology and Metabolism, Odense University Hospital, Odense, Denmark

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Marianne Andersen Department of Endocrinology and Metabolism, Odense University Hospital, Odense, Denmark

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Background/aims

Polycystic ovary syndrome (PCOS) is associated with insulin resistance, adrenal hyperactivity and decreased mental health. We aimed to investigate the changes in adrenal activity, metabolic status and mental health in PCOS during treatment with escitalopram or placebo.

Methods

Forty-two overweight premenopausal women with PCOS and no clinical depression were randomized to 12-week SSRI (20 mg escitalopram/day, n = 21) or placebo (n = 21). Patients underwent clinical examination, fasting blood samples, adrenocorticotroph hormone (ACTH) test, 3-h oral glucose tolerance test (OGTT) and filled in questionnaires regarding mental health and health-related quality of life (HRQoL): WHO Well-Being Index (WHO-5), Major Depression Inventory (MDI), Short Form 36 (SF-36) and PCOS questionnaire.

Results

Included women were aged 31 (6) years (mean (s.d.)) and had body mass index (BMI) 35.8 (6.5) kg/m2 and waist 102 (12) cm. Escitalopram was associated with increased waist (median (quartiles) change 1 (0; 3) cm), P = 0.005 vs change during placebo and increased cortisol levels (cortisol 0, cortisol 60, peak cortisol and area under the curve for cortisol during ACTH test), all P< 0.05 vs changes during placebo. Escitalopram had no significant effect on measures of insulin sensitivity, insulin secretion, fasting lipids, mental health or HRQoL.

Conclusion

Waist circumference and cortisol levels increased during treatment with escitalopram in women with PCOS and no clinical depression, whereas metabolic risk markers, mental health and HRQol were unchanged.

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Masatada Watanabe Laboratory of Tissue Regeneration, Hoshi University School of Pharmacy and Pharmaceutical Sciences, Shinagawa, Tokyo, Japan

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Shuji Ohno Division of Research for Pharmacy Students Education, Hoshi University, Shinagawa, Tokyo, Japan

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Hiroshi Wachi Laboratory of Tissue Regeneration, Hoshi University School of Pharmacy and Pharmaceutical Sciences, Shinagawa, Tokyo, Japan

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Emerging evidence suggests that sex steroids are important for human skin health. In particular, estrogen improves skin thickness, elasticity and moisture of older women. The major source of circulating estrogen is the ovary; however, local estrogen synthesis and secretion have important roles in, for example, bone metabolism and breast cancer development. We hypothesized that infiltrated peripheral monocytes are one of the sources of estrogen in skin tissues. We also hypothesized that, during atopic dermatitis under stress, a decline in the hypothalamus–pituitary–adrenal axis (HPA) and facilitation of the (hypothalamus)–sympathetic–adrenomedullary system (SAM) attenuates estrogen secretion from monocytes. Based on this hypothesis, we tested aromatase expression in the human peripheral monocyte-derived cell line THP-1 in response to the synthetic glucocorticoid dexamethasone (Dex), the synthetic β-agonist isoproterenol (Iso) and the β-antagonist propranolol (Pro). Dex mimics glucocorticoid secreted during excitation of the HPA, and Iso mimics catecholamine secreted during excitation of the SAM. We found that aromatase activity and the CYP19A1 gene transcript were both upregulated in THP-1 cells in the presence of Dex. Addition of Iso induced their downregulation and further addition of Pro rescued aromatase expression. These results may suggest that attenuation of estrogen secretion from peripheral monocytes could be a part of the pathology of stress-caused deterioration of atopic dermatitis. Further examination using an in vitro human skin model including THP-1 cells might be a valuable tool for investigating the therapeutic efficacy and mechanism of estrogen treatment for skin health.

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Luigi Laino Department of Molecular Medicine, Department of Pediatrics and Hematology, Psychology Department, Department of Pediatric Surgery, Medical Genetics, San Camillo-Forlanini Hospital, Sapienza University, A.O. San Camillo-Forlanini, Padiglione Morgagni, I piano, UOC Laboratorio di Genetica Medica, Circonvallazione Gianicolense 87, Rome 00152, Italy

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Silvia Majore Department of Molecular Medicine, Department of Pediatrics and Hematology, Psychology Department, Department of Pediatric Surgery, Medical Genetics, San Camillo-Forlanini Hospital, Sapienza University, A.O. San Camillo-Forlanini, Padiglione Morgagni, I piano, UOC Laboratorio di Genetica Medica, Circonvallazione Gianicolense 87, Rome 00152, Italy

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Nicoletta Preziosi Department of Molecular Medicine, Department of Pediatrics and Hematology, Psychology Department, Department of Pediatric Surgery, Medical Genetics, San Camillo-Forlanini Hospital, Sapienza University, A.O. San Camillo-Forlanini, Padiglione Morgagni, I piano, UOC Laboratorio di Genetica Medica, Circonvallazione Gianicolense 87, Rome 00152, Italy

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Barbara Grammatico Department of Molecular Medicine, Department of Pediatrics and Hematology, Psychology Department, Department of Pediatric Surgery, Medical Genetics, San Camillo-Forlanini Hospital, Sapienza University, A.O. San Camillo-Forlanini, Padiglione Morgagni, I piano, UOC Laboratorio di Genetica Medica, Circonvallazione Gianicolense 87, Rome 00152, Italy

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Carmelilia De Bernardo Department of Molecular Medicine, Department of Pediatrics and Hematology, Psychology Department, Department of Pediatric Surgery, Medical Genetics, San Camillo-Forlanini Hospital, Sapienza University, A.O. San Camillo-Forlanini, Padiglione Morgagni, I piano, UOC Laboratorio di Genetica Medica, Circonvallazione Gianicolense 87, Rome 00152, Italy

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Salvatore Scommegna Department of Molecular Medicine, Department of Pediatrics and Hematology, Psychology Department, Department of Pediatric Surgery, Medical Genetics, San Camillo-Forlanini Hospital, Sapienza University, A.O. San Camillo-Forlanini, Padiglione Morgagni, I piano, UOC Laboratorio di Genetica Medica, Circonvallazione Gianicolense 87, Rome 00152, Italy

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Anna Maria Rapone Department of Molecular Medicine, Department of Pediatrics and Hematology, Psychology Department, Department of Pediatric Surgery, Medical Genetics, San Camillo-Forlanini Hospital, Sapienza University, A.O. San Camillo-Forlanini, Padiglione Morgagni, I piano, UOC Laboratorio di Genetica Medica, Circonvallazione Gianicolense 87, Rome 00152, Italy

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Giacinto Marrocco Department of Molecular Medicine, Department of Pediatrics and Hematology, Psychology Department, Department of Pediatric Surgery, Medical Genetics, San Camillo-Forlanini Hospital, Sapienza University, A.O. San Camillo-Forlanini, Padiglione Morgagni, I piano, UOC Laboratorio di Genetica Medica, Circonvallazione Gianicolense 87, Rome 00152, Italy

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Irene Bottillo Department of Molecular Medicine, Department of Pediatrics and Hematology, Psychology Department, Department of Pediatric Surgery, Medical Genetics, San Camillo-Forlanini Hospital, Sapienza University, A.O. San Camillo-Forlanini, Padiglione Morgagni, I piano, UOC Laboratorio di Genetica Medica, Circonvallazione Gianicolense 87, Rome 00152, Italy

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Paola Grammatico
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Sex development is a process under genetic control directing both the bi-potential gonads to become either a testis or an ovary, and the consequent differentiation of internal ducts and external genitalia. This complex series of events can be altered by a large number of genetic and non-genetic factors. Disorders of sex development (DSD) are all the medical conditions characterized by an atypical chromosomal, gonadal, or phenotypical sex. Incomplete knowledge of the genetic mechanisms involved in sex development results in a low probability of determining the molecular definition of the genetic defect in many of the patients. In this study, we describe the clinical, cytogenetic, and molecular study of 88 cases with DSD, including 29 patients with 46,XY and disorders in androgen synthesis or action, 18 with 46,XX and disorders in androgen excess, 17 with 46,XY and disorders of gonadal (testicular) development, 11 classified as 46,XX other, eight with 46,XX and disorders of gonadal (ovarian) development, and five with sex chromosome anomalies. In total, we found a genetic variant in 56 out of 88 of them, leading to the clinical classification of every patient, and we outline the different steps required for a coherent genetic testing approach. In conclusion, our results highlight the fact that each category of DSD is related to a large number of different DNA alterations, thus requiring multiple genetic studies to achieve a precise etiological diagnosis for each patient.

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Christian Trummer Department of Internal Medicine, Division of Endocrinology and Diabetology, Medical University of Graz, Graz, Austria

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Stefan Pilz Department of Internal Medicine, Division of Endocrinology and Diabetology, Medical University of Graz, Graz, Austria

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Verena Schwetz Department of Internal Medicine, Division of Endocrinology and Diabetology, Medical University of Graz, Graz, Austria

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Barbara Obermayer-Pietsch Department of Internal Medicine, Division of Endocrinology and Diabetology, Medical University of Graz, Graz, Austria

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Elisabeth Lerchbaum Department of Internal Medicine, Division of Endocrinology and Diabetology, Medical University of Graz, Graz, Austria

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Background

Accumulating evidence from animal and human studies suggests that vitamin D is involved in many functions of the reproductive system in both genders.

Aim

The aim of this review was to provide an overview on the effects of vitamin D on polycystic ovary syndrome (PCOS) in women and androgen metabolism in men.

Methods

We performed a systematic literature search in PubMed for relevant English language publications published from January 2012 until September 2017.

Results and discussion

The vitamin D receptor and vitamin D-metabolizing enzymes are found in reproductive tissues of women and men. In women, vitamin D status has been associated with several features of PCOS. In detail, cross-sectional data suggest a regulatory role of vitamin D in PCOS-related aspects such as ovulatory dysfunction, insulin resistance as well as hyperandrogenism. Moreover, results from randomized controlled trials (RCTs) suggest that vitamin D supplementation may be beneficial for metabolic, endocrine and fertility aspects in PCOS. In men, vitamin D status has been associated with androgen levels and hypogonadism. Further, there is some evidence for a favorable effect of vitamin D supplementation on testosterone concentrations, although others failed to show a significant effect on testosterone levels.

Conclusion

In summary, vitamin D deficiency is associated with adverse fertility outcomes including PCOS and hypogonadism, but the evidence is insufficient to establish causality. High-quality RCTs are needed to further evaluate the effects of vitamin D supplementation in PCOS women as well as on androgen levels in men.

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Henrik Falhammar Department of Endocrinology, Metabolism and Diabetes, Karolinska University Hospital, Stockholm, Sweden
Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden

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Hedi Claahsen-van der Grinten Department of Pediatric Endocrine Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

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Nicole Reisch Medizinische Klinik and Poliklinik IV, Department of Endocrinology, University Hospital Munich, Munich, Germany

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Jolanta Slowikowska-Hilczer Department of Andrology and Reproductive Endocrinology, Medical University of Lodz, Lodz, Poland

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Anna Nordenström Department of Women’s and Children’s Health, Karolinska Institutet, Stockholm, Sweden
Department of Paediatric Endocrinology, Astrid Lindgren Children Hospital, Karolinska University Hospital, Stockholm, Sweden

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Robert Roehle Coordinating Center for Clinical Studies, Charité Universitätsmedizin, Berlin, Germany

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Claire Bouvattier Paris-Sud University, Orsay, France
Department of Pediatric Endocrinology, Hôpital Bicêtre, Assistance Publique-Hôpitaux de Paris, Le Kremlin Bicêtre, France

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Baudewijntje P C Kreukels Department of Medical Psychology, VU University Medical Center, Amsterdam, The Netherlands

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Birgit Köhler Department of Paediatric Endocrinology and Diabetology, Charité Universitätsmedizin, Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany

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on behalf of the dsd-LIFE group
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Objective

The knowledge about health status in adults with disorder of sex development (DSD) is scarce.

Design and methods

A cross-sectional observational study in 14 European tertiary centers recruited 1040 participants (717 females, 311 males, 12 others) with DSD. Mean age was 32.4 ± 13.6 year (range 16–75). The cohort was divided into: Turner (n = 301), Klinefelter (n = 224), XY-DSD (n = 222), XX-DSD (excluding congenital adrenal hyperplasia (CAH) and 46,XX males) (n = 21), 46,XX-CAH (n = 226) and 45,X/46,XY (n = 45). Perceived and objective health statuses were measured and compared to European control data.

Results

In DSD, fair to very good general health was reported by 91.4% and only 8.6% reported (very) bad general health (controls 94.0% and 6.0%, P < 0.0001). Longstanding health issues other than DSD and feeling limited in daily life were reported in 51.0% and 38.6%, respectively (controls 24.5% and 13.8%, P < 0.0001 both). Any disorder except DSD was present in 84.3% (controls 24.6%, P < 0.0001). Males reported worse health than females. In the subgroup analysis, Klinefelter and 46,XX-DSD patients reported bad general health in 15.7% and 16.7%, respectively (Turner 3.2% and CAH 7.4%). Comorbidities were prevalent in all DSD subgroups but Klinefelter and Turner were most affected. Early diagnosis of DSD and a healthy lifestyle were associated with less comorbidities.

Conclusions

Overall, general health appeared to be good but a number of medical problems were reported, especially in Klinefelter and Turner. Early diagnosis of DSD and a healthy lifestyle seemed to be important. Lifelong follow-up at specialized centers is necessary.

Open access
Signe Kirkegaard Department of Clinical Medicine, Aalborg University, Aalborg, Denmark
Department of Clinical Biochemistry, Aalborg University Hospital, Aalborg, Denmark

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Nanna Maria Uldall Torp Department of Clinical Medicine, Aalborg University, Aalborg, Denmark
Department of Clinical Biochemistry, Aalborg University Hospital, Aalborg, Denmark

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Stig Andersen Department of Clinical Medicine, Aalborg University, Aalborg, Denmark
Department of Geriatrics, Aalborg University Hospital, Aalborg, Denmark

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Stine Linding Andersen Department of Clinical Medicine, Aalborg University, Aalborg, Denmark
Department of Clinical Biochemistry, Aalborg University Hospital, Aalborg, Denmark

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Endometriosis and polycystic ovary syndrome (PCOS) are common gynecological disorders that constitute a significant burden of disease in women of fertile age. The disorders share a link to female reproduction and infertility; however, divergent effects on menstrual cycle, related hormones, and body composition have been proposed. Disorders of the thyroid gland including abnormal thyroid dysfunction (hyperthyroidism or hypothyroidism) and/or markers of thyroid autoimmunity similarly show a female predominance and onset in younger age groups. We reviewed the literature on the association between endometriosis, PCOS, and thyroid disease up until July 1, 2023, and identified 8 original studies on endometriosis and thyroid disease and 30 original studies on PCOS and thyroid disease. The studies were observational and heterogeneous regarding the design, sample size, and definitions of exposure and outcome; however, a tendency was seen toward an association between hyperthyroidism and endometriosis. Especially an association between endometriosis and slightly elevated levels of thyroid-stimulating hormone receptor antibodies has been found and corroborated in studies from different populations. On the other hand, the literature review turned a focus toward an association between hypothyroidism and PCOS, however, with uncertainties as to whether the association is caused by hypothyroidism per se and/or the thyroid autoantibodies (thyroid peroxidase and thyroglobulin antibodies). More evidence is needed to substantiate an association between endometriosis, PCOS, and thyroid disease, and to differentiate between the role of thyroid function and thyroid autoimmunity. Furthermore, studies are warranted to extend knowledge on the different disease characteristics and underlying mechanisms.

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Teresa Vilariño-García Department of Medical Biochemistry, Molecular Biology and Immunology. Medical School, Virgen Macarena University Hospital, University of Seville, Seville, Spain

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Antonio Pérez-Pérez Department of Medical Biochemistry, Molecular Biology and Immunology. Medical School, Virgen Macarena University Hospital, University of Seville, Seville, Spain

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Esther Santamaría-López Valencian Infertility Institute (IVI), Seville, Spain

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Nicolás Prados Valencian Infertility Institute (IVI), Seville, Spain

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Manuel Fernández-Sánchez Valencian Infertility Institute (IVI), Seville, Spain

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Víctor Sánchez-Margalet Department of Medical Biochemistry, Molecular Biology and Immunology. Medical School, Virgen Macarena University Hospital, University of Seville, Seville, Spain

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Introduction

Polycystic ovary syndrome (PCOS) is a complex metabolic disorder associated with ovulatory dysfunction, hyperandrogenism, obesity, and insulin resistance, that leads to subfertility. Sam68 is an RNA-binding protein with signaling functions that is ubiquitously expressed, including gonads. Sam68 is recruited to leptin signaling, mediating different leptin actions.

Objective

We aimed to investigate the role of Sam68 in leptin signaling, mediating the effect on aromatase expression in granulosa cells and the posible implication of Sam68 in the leptin resistance in PCOS.

Materials and methods

Granulosa cells were from healthy donors (n = 25) and women with PCOS (n = 25), within the age range of 20 to 40 years, from Valencian Infertility Institute (IVI), Seville, Spain. Sam68 expression was inhibited by siRNA method and overexpressed by expression vector. Expression level was analysed by qPCR and immunoblot. Statistical significance was assessed by ANOVA followed by different post-hoc tests. A P value of <0.05 was considered statistically significant.

Results

We have found that leptin stimulation increases phosphorylation and expression level of Sam68 and aromatase in granulosa cells from normal donors. Downregulation of Sam68 expression resulted in a lower activation of MAPK and PI3K pathways in response to leptin, whereas overexpression of Sam68 increased leptin stimulation of signaling, enhancing aromatase expression. Granulosa cells from women with PCOS presented lower expression of Sam68 and were resistant to the leptin effect on aromatase expression.

Conclusions

These results suggest the participation of Sam68 in leptin receptor signaling, mediating the leptin effect on aromatase expression in granulosa cells, and point to a new target in leptin resistance in PCOS.

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E Kohva Children’s Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
Faculty of Medicine, Department of Physiology, University of Helsinki, Helsinki, Finland

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P J Miettinen Children’s Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland

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S Taskinen Children’s Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
Department of Pediatric Surgery, Children’s Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland

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M Hero Children’s Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland

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A Tarkkanen Children’s Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
Faculty of Medicine, Department of Physiology, University of Helsinki, Helsinki, Finland

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T Raivio Children’s Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
Faculty of Medicine, Department of Physiology, University of Helsinki, Helsinki, Finland

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Background

We describe the phenotypic spectrum and timing of diagnosis and management in a large series of patients with disorders of sexual development (DSD) treated in a single pediatric tertiary center.

Methods

DSD patients who had visited our tertiary center during the survey period (between 2004 and 2014) were identified based on an ICD-10 inquiry, and their phenotypic and molecular genetic findings were recorded from patient charts.

Results

Among the 550 DSD patients, 53.3% had 46,XY DSD; 37.1% had sex chromosome DSD and 9.6% had 46,XX DSD. The most common diagnoses were Turner syndrome (19.8%, diagnosed at the mean age of 4.7 ± 5.5 years), Klinefelter syndrome (14.5%, 6.8 ± 6.2 years) and bilateral cryptorchidism (23.1%). Very few patients with 46,XY DSD (7%) or 46,XX DSD (21%) had molecular genetic diagnosis. The yearly rate of DSD diagnoses remained stable over the survey period. After the release of the Nordic consensus on the management of undescended testes, the age at surgery for bilateral cryptorchidism declined significantly (P < 0.001).

Conclusions

Our results show that (i) Turner syndrome and Klinefelter syndrome, the most frequent single DSD diagnoses, are still diagnosed relatively late; (ii) a temporal shift was observed in the management of bilateral cryptorchidism, which may favorably influence patients’ adulthood semen quality and (iii) next-generation sequencing methods are not fully employed in the diagnostics of DSD patients.

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Valentina Guarnotta Dipartimento di Promozione della Salute, Materno-Infantile, Medicina Interna e Specialistica di Eccellenza ‘G. D’Alessandro’ (PROMISE), Sezione di Malattie Endocrine, del Ricambio e della Nutrizione, Università di Palermo, Palermo, Italy

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Silvia Lucchese Dipartimento di Promozione della Salute, Materno-Infantile, Medicina Interna e Specialistica di Eccellenza ‘G. D’Alessandro’ (PROMISE), Sezione di Malattie Endocrine, del Ricambio e della Nutrizione, Università di Palermo, Palermo, Italy

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Mariagrazia Irene Mineo Dipartimento di Promozione della Salute, Materno-Infantile, Medicina Interna e Specialistica di Eccellenza ‘G. D’Alessandro’ (PROMISE), Sezione di Malattie Endocrine, del Ricambio e della Nutrizione, Università di Palermo, Palermo, Italy

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Donatella Mangione Dipartimento di Promozione della Salute, Materno-Infantile, Medicina Interna e Specialistica di Eccellenza ‘G. D’Alessandro’ (PROMISE), Sezione di Ostetricia e Ginecologia, Università di Palermo, Palermo, Italy

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Renato Venezia Dipartimento di Promozione della Salute, Materno-Infantile, Medicina Interna e Specialistica di Eccellenza ‘G. D’Alessandro’ (PROMISE), Sezione di Ostetricia e Ginecologia, Università di Palermo, Palermo, Italy

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Piero Luigi Almasio Dipartimento di Promozione della Salute, Materno-Infantile, Medicina Interna e Specialistica di Eccellenza ‘G. D’Alessandro’ (PROMISE), Sezione di Gastroenterologia ed Epatologia, Università di Palermo, Palermo, Italy

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Carla Giordano Dipartimento di Promozione della Salute, Materno-Infantile, Medicina Interna e Specialistica di Eccellenza ‘G. D’Alessandro’ (PROMISE), Sezione di Malattie Endocrine, del Ricambio e della Nutrizione, Università di Palermo, Palermo, Italy

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Objective

The aim of this study is to clarify, in girls with premature pubarche (PP), the influence of premature androgenization on the prevalence of polycystic ovary syndrome (PCOS).

Design and patients

Ninety-nine PP girls, 63 who developed PCOS and 36 who did not develop PCOS, were retrospectively included. Clinical, anthropometric, and metabolic parameters were evaluated at the time of diagnosis of PP and after 10 years from menarche to find predictive factors of PCOS.

Results

Young females with PP showed a PCOS prevalence of 64% and showed a higher prevalence of familial history of diabetes (P = 0.004) and a lower prevalence of underweight (P = 0.025) than PP-NO-PCOS. In addition, girls with PP-PCOS showed higher BMI (P < 0.001), waist circumference (P < 0.001), total testosterone (P = 0.026), visceral adiposity index (VAI) (P = 0.013), total cholesterol (P < 0.001), LDL-cholesterol (P < 0.001), non-HDL cholesterol (P < 0.001) and lower age of menarche (P = 0.015), ISI-Matsuda (P < 0.001), DIo (P = 0.002), HDL cholesterol (P = 0.026) than PP-NO-PCOS. Multivariate analysis showed that WC (P = 0.049), ISI-Matsuda (P < 0.001), oral disposition index (DIo) (P < 0.001), VAI (P < 0.001), total testosterone (P < 0.001) and LDL-cholesterol (P < 0.001) are independent predictive factors for PCOS in girls with PP.

Conclusions

Our study established a strong association between multiple risk factors and development of PCOS in PP girls. These risk factors are predominantly related to the regulation of glucose, lipid, and androgen metabolism. Among these factors, WC, ISI-Matsuda, DIo, VAI, total testosterone, and LDL-cholesterol predict PCOS.

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