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Diana-Alexandra Ertl Department of Pulmonology, Allergology and Endocrinology, University Clinic for Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria

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Andreas Gleiss Center for Medical Statistics, Informatics, and Intelligent Systems, Medical University of Vienna, Vienna, Austria

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Katharina Schubert Department of Pulmonology, Allergology and Endocrinology, University Clinic for Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria

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Caroline Culen Department of Pulmonology, Allergology and Endocrinology, University Clinic for Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria

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Peer Hauck Pediatric Heart Center Vienna, University Clinic for Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria

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Johannes Ott Clinic Division for Gynecologic Endocrinology and Reproductive Medicine, Medical University of Vienna, Vienna, Austria

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Alois Gessl Division of Endocrinology, University Clinic of Internal Medicine III, Medical University of Vienna, Vienna, Austria

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Gabriele Haeusler Department of Pulmonology, Allergology and Endocrinology, University Clinic for Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria

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Background

Previous studies have shown that only a minority of patients with Turner syndrome (TS) have adequate medical care after transfer to adult care.

Aim of this study

To assess the status of medical follow-up and quality of life (QoL) in adult women diagnosed with TS and followed up until transfer. To compare the subjective and objective view of the medical care quality and initiate improvements based on patients’ experiences and current recommendations.

Methods

39 adult women with TS out of 64 patients contacted were seen for a clinical and laboratory check, cardiac ultrasound, standardized and structured questionnaires (SF-36v2 and Beck depression inventory).

Results

7/39 of the patients were not being followed medically at all. Only 2/39 consulted all the specialists recommended. Comorbidities were newly diagnosed in 27/39 patients; of these, 11 related to the cardiovascular system. Patients in our cohort scored as high as the mean reference population for SF-36v2 in both mental and physical compartments. Obese participants had lower scores in the physical function section, whereas higher education was related to higher physical QoL scores. Adult height slightly correlated positively with physical health.

Conclusion

Medical follow-up was inadequate in our study cohort of adults with TS. Even though their medical follow-up was insufficient, these women felt adequately treated, leaving them vulnerable for premature illness. Initiatives in health autonomy and a structured transfer process as well as closer collaborations within specialities are urgently needed.

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Silvia Ciancia Department of Internal Medicine and Pediatrics, Ghent University, Ghent, Belgium

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Vanessa Dubois Basic and Translational Endocrinology (BaTE), Department of Basic and Applied Medical Sciences, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium

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Martine Cools Department of Internal Medicine and Pediatrics, Ghent University, Pediatric Endocrinology Service, Ghent University Hospital, Ghent, Belgium

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Both in the United States and Europe, the number of minors who present at transgender healthcare services before the onset of puberty is rapidly expanding. Many of those who will have persistent gender dysphoria at the onset of puberty will pursue long-term puberty suppression before reaching the appropriate age to start using gender-affirming hormones. Exposure to pubertal sex steroids is thus significantly deferred in these individuals. Puberty is a critical period for bone development: increasing concentrations of estrogens and androgens (directly or after aromatization to estrogens) promote progressive bone growth and mineralization and induce sexually dimorphic skeletal changes. As a consequence, safety concerns regarding bone development and increased future fracture risk in transgender youth have been raised. We here review published data on bone development in transgender adolescents, focusing in particular on differences in age and pubertal stage at the start of puberty suppression, chosen strategy to block puberty progression, duration of puberty suppression, and the timing of re-evaluation after estradiol or testosterone administration. Results consistently indicate a negative impact of long-term puberty suppression on bone mineral density, especially at the lumbar spine, which is only partially restored after sex steroid administration. Trans girls are more vulnerable than trans boys for compromised bone health. Behavioral health measures that can promote bone mineralization, such as weight-bearing exercise and calcium and vitamin D supplementation, are strongly recommended in transgender youth, during the phase of puberty suppression and thereafter.

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Bo Zhu Department of Obstetrics and Gynecology, Assisted Reproduction Unit, Sir Run Run ShawHospital, Zhejiang University School of Medicine Key Laboratory of Reproductive Dysfunction Management of Zhejiang Province, Hangzhou, Zhejiang, China
Department of Gynecology and Obstetrics, Wenzhou People’s Hospital, Wenzhou Women and Children Health, Wenzhou, Zhejiang, China

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Yumei Chen Department of Gynecology and Obstetrics, Wenzhou People’s Hospital, Wenzhou Women and Children Health, Wenzhou, Zhejiang, China

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Fang Xu Department of Gynecology and Obstetrics, Wenzhou People’s Hospital, Wenzhou Women and Children Health, Wenzhou, Zhejiang, China

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Xiaolu Shen Department of Gynecology and Obstetrics, Wenzhou People’s Hospital, Wenzhou Women and Children Health, Wenzhou, Zhejiang, China

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Xuanyu Chen Department of Gynecology and Obstetrics, Wenzhou People’s Hospital, Wenzhou Women and Children Health, Wenzhou, Zhejiang, China

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Jieqiang Lv Department of Gynecology and Obstetrics, the Second Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China

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Songying Zhang Department of Obstetrics and Gynecology, Assisted Reproduction Unit, Sir Run Run ShawHospital, Zhejiang University School of Medicine Key Laboratory of Reproductive Dysfunction Management of Zhejiang Province, Hangzhou, Zhejiang, China

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Background

Androgens excess results in endoplasmic reticulum (ER) stress, which is an important cause of β cells dysfunction. Here, we investigated the molecular regulation of androgens excess, ER stress, and β-cell function in polycystic ovary syndrome (PCOS).

Methods

PCOS mouse model was established by injection of DHEA. Primary cultured mouse islets were used to detect testosterone (TE)-induced ER stress. The response of ER stress, apoptosis, and hyperinsulinemia were analyzed in INS-1 cells with or without TE exposure. Androgen receptor (AR) antagonist and ER stress inhibitor treatment was performed to evaluate the role of TE in ER stress and proinsulin secretion of PCOS mice.

Results

PCOS mice had higher ER stress in islets. TE exposure induced ER stress and apoptosis significantly through sustaining insulin overexpression in β cells, which in turn impaired proinsulin maturation and secretion. Blocking this process could significantly relieve ER stress and apoptosis and improve insulin homeostasis.

Conclusion

ER stress activated by androgens excess in PCOS contributes to β cell dysfunction and hyperinsulinemia.

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Shilpa Lingaiah Department of Obstetrics and Gynaecology, PEDEGO Research Unit, Medical Research Centre, University of Oulu and Oulu University Hospital, Oulu, Finland

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Laure Morin-Papunen Department of Obstetrics and Gynaecology, PEDEGO Research Unit, Medical Research Centre, University of Oulu and Oulu University Hospital, Oulu, Finland

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Terhi Piltonen Department of Obstetrics and Gynaecology, PEDEGO Research Unit, Medical Research Centre, University of Oulu and Oulu University Hospital, Oulu, Finland

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Inger Sundström-Poromaa Department of Women’s and Children’s Health, Uppsala University, Uppsala, Sweden

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Elisabet Stener-Victorin Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden

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Juha S Tapanainen Department of Obstetrics and Gynaecology, PEDEGO Research Unit, Medical Research Centre, University of Oulu and Oulu University Hospital, Oulu, Finland
Department of Obstetrics and Gynaecology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland

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Objective

Serum levels of retinol-binding protein 4 (RBP4), an adipokine thought to affect systemic insulin sensitivity, were compared between women with polycystic ovary syndrome (PCOS) and non-PCOS controls to evaluate the association of RBP4 with clinical, hormonal and metabolic parameters of PCOS.

Subjects and methods

Serum RBP4 levels were analysed in 278 women with PCOS (age range 18–57 years) and 191 non-PCOS controls (age 20–53 years) by enzyme-linked immunosorbent assay.

Results

Serum levels of RBP4 were increased in women with PCOS compared with control women in the whole population (45.1 ± 24.0 (s.d.) vs 33.5 ± 18.3 mg/L, P < 0.001). Age-stratified analysis showed that serum RBP4 levels were increased in women with PCOS aged ≤30 years compared with controls (47.7 ± 23.5 vs 27.1 ± 10.4 mg/L, P < 0.001), whereas no significant differences were seen in the other age groups. No significant correlations of RBP4 were seen with either steroids or indices of insulin resistance.

Conclusions

Although serum RBP4 levels were increased in younger women with PCOS compared with age-matched non-PCOS controls, RBP4 does not seem to be a good marker of insulin resistance or other metabolic derangements in women with PCOS.

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Anastasia K Armeni Division of Reproductive Endocrinology, Department of Obstetrics and Gynaecology, University of Patras Medical School, Patras, Greece

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Konstantinos Assimakopoulos Department of Psychiatry, University of Patras Medical School, Patras, Greece

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Dimitra Marioli Division of Reproductive Endocrinology, Department of Obstetrics and Gynaecology, University of Patras Medical School, Patras, Greece

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Vassiliki Koika Division of Reproductive Endocrinology, Department of Obstetrics and Gynaecology, University of Patras Medical School, Patras, Greece

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Euthychia Michaelidou Department of Biology, University of Patras, Patras, Greece

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Niki Mourtzi Department of Biology, University of Patras, Patras, Greece

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Gregoris Iconomou Department of Psychiatry, University of Patras Medical School, Patras, Greece

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Neoklis A Georgopoulos Division of Reproductive Endocrinology, Department of Obstetrics and Gynaecology, University of Patras Medical School, Patras, Greece

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Over the past decades, research attention has increasingly been paid to the neurobiological component of sexual behavior. The aim of the present study was to investigate the correlation of estrogen receptor α (ERA) gene polymorphism (rs2234693-PvuII) (T→C substitution) and oxytocin receptor gene polymorphism (rs53576) (G→A substitution) with sexuality parameters of young, healthy women. One hundred thirty-three Greek heterosexual women, students in higher education institutions, 20–25 years of age, sexually active, with normal menstrual cycles (28–35 days), were recruited in the study. Exclusion criteria were chronic and/or major psychiatric diseases, use of oral contraceptive pills (OCs), polycystic ovary syndrome (PCOS), thyroid diseases as well as drugs that are implicated in hypothalamus–pituitary–gonadal axis. T allele (wildtype) of rs2234693 (PvuII) polymorphism of ERA gene was correlated with increased levels of arousal and lubrication, whereas A allele (polymorphic) of rs53576 (OXTR) polymorphism was correlated with increased arousal levels. The simultaneous presence of both T allele of rs2234693 (PvuII) and A allele of rs53576 (OXTR) polymorphisms (T + A group) was correlated with increased arousal, orgasm levels as well as female sexual function index full score. To our knowledge, this is the first study to investigate the interaction between ERA and OXTR with regard to sexual function in women. Female sexuality is a complex behavioral trait that encompasses both biological and psychological components. It seems that variability in female sexual response stems from genetic variability that characterizes endocrine, neurotransmitter and central nervous system influences.

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Michelle Hadjiconstantinou University of Leicester, Diabetes Research Centre, Leicester Diabetes Centre, Leicester General Hospital, Leicester, UK

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Hamidreza Mani University of Leicester, Diabetes Research Centre, Leicester Diabetes Centre, Leicester General Hospital, Leicester, UK
Department of Diabetes and Endocrinology, Leicester Royal Infirmary, University Hospitals of Leicester NHS Trust, Leicester, UK

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Naina Patel University of Leicester, Diabetes Research Centre, Leicester Diabetes Centre, Leicester General Hospital, Leicester, UK

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Miles Levy Department of Diabetes and Endocrinology, Leicester Royal Infirmary, University Hospitals of Leicester NHS Trust, Leicester, UK

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Melanie Davies University of Leicester, Diabetes Research Centre, Leicester Diabetes Centre, Leicester General Hospital, Leicester, UK
Department of Diabetes and Endocrinology, Leicester Royal Infirmary, University Hospitals of Leicester NHS Trust, Leicester, UK

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Kamlesh Khunti University of Leicester, Diabetes Research Centre, Leicester Diabetes Centre, Leicester General Hospital, Leicester, UK

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Margaret Stone University of Leicester, Diabetes Research Centre, Leicester Diabetes Centre, Leicester General Hospital, Leicester, UK

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Objective

Polycystic ovary syndrome (PCOS) is a lifelong condition. Its symptoms have been linked with psychological consequences, but less attention has been given to the daily implications of living with PCOS. We aimed to explore women’s experiences living with PCOS, and the potential acceptability of group education sessions for this target group.

Methods

Women with PCOS were recruited from an ethnically diverse UK community. Twelve semi-structured interviews were conducted. Analysis was underpinned by the constant comparative approach and involved the identification and exploration of key themes.

Results

Participants reported a range of symptoms linked with PCOS, including problems relating to menstruation and weight difficulties. Hirsutism was reported as the most distressing symptom. Emergent themes included perceptions about symptoms and delays in receiving a diagnosis; psychological distress; practical implications of living with the condition; coping with PCOS and perceived support needs. Some findings were specific to cultural backgrounds. Participants were supportive of the idea of group education for women with PCOS and suggested a need to provide education within the community and health care providers.

Discussion

Women with PCOS experience high psychological distress and difficulties with coping with their condition. Suggested strategies to reduce the negative psychological impact include education at various levels.

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Nafiye Helvaci Department of Internal Medicine, Division of Endocrinology and Metabolism, Hacettepe University School of Medicine, Ankara, Turkey

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Erdem Karabulut Department of Biostatistics, Hacettepe University School of Medicine, Ankara, Turkey

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Ahmet Ugur Demir Department of Chest Diseases, Hacettepe University School of Medicine, Ankara, Turkey

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Bulent Okan Yildiz Department of Internal Medicine, Division of Endocrinology and Metabolism, Hacettepe University School of Medicine, Ankara, Turkey

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Background and Objective

Polycystic ovary syndrome (PCOS) has been reported to be associated with the development of obstructive sleep apnea (OSA). The objective of this meta-analysis is to assess the relationship between PCOS and OSA.

Methods

A literature search was conducted to identify studies linking PCOS with the risk of OSA. Studies in which the presence of OSA was confirmed with overnight polysomnography were included. Random effects models were used to calculate pooled relative risks.

Results

Eight studies conducted in adults and five studies conducted in adolescents were identified. The pooled OSA prevalence was 0.22 (95% confidence interval (CI): 0.08–0.40) in PCOS patients. The pooled prevalence of OSA was higher in adults (0.32, 95% CI: 0.13–0.55) than adolescents (0.08, 95% CI: 0.00–0.30). Risk of OSA was significantly increased in adult patients with PCOS (odds ratio (OR) 9.74, 95% CI: 2.76–34.41). Risk of OSA was not significantly increased in adolescents (OR: 4.54, 95% CI:0.56–36.43).

Conclusions

These findings demonstrate a significant association between PCOS and OSA in adult patients. Considering the increased risk for long-term cardiometabolic disorders associated with both PCOS and OSA, it is important to diagnose and treat OSA in patients with PCOS.

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Xingyan Liu Department of Obstetrics & Gynecology, General Hospital of PLA Eastern Theater (Nanjing General Hospital of Nanjing Military Command), Command, Nanjing, China

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Mei Xu Department of Obstetrics & Gynecology, General Hospital of PLA Eastern Theater (Nanjing General Hospital of Nanjing Military Command), Command, Nanjing, China

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Min Qian Department of Obstetrics & Gynecology, General Hospital of PLA Eastern Theater (Nanjing General Hospital of Nanjing Military Command), Command, Nanjing, China

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Lindong Yang Department of Obstetrics & Gynecology, General Hospital of PLA Eastern Theater (Nanjing General Hospital of Nanjing Military Command), Command, Nanjing, China

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The cytochrome P450 family 17 (CYP17) is associated with hyperandrogenism in women, and the association between CYP17 gene polymorphism and the risk of polycystic ovary syndrome (PCOS) is not definitive. In order to determine whether the CYP17 T/C (rs74357) gene polymorphism is an exposure risk for PCOS, a comprehensive meta-analysis summarizing 19 studies was performed. The pooled odds ratio (OR) and the corresponding 95% CI were measured under five genetic models, and the stratified analyses by ethnicity, Hardy–Weinberg equilibrium, testosterone levels and BMI in controls were carried out to identify the causes of substantial heterogeneity. The overall results validated that the CYP17 T/C (rs74357) gene polymorphism was significantly associated with PCOS risk in four genetic models. Moreover, the outcomes of subgroup analysis by ethnicity indicated that the frequencies of the C allele of CYP17 T/C (rs74357) polymorphism were markedly higher in women from Asia than in Caucasians (T vs C: OR 0.85, 95% CI = 0.74–0.99, P < 0.05). Therefore, these findings suggested that the CYP17 T/C (rs74357) gene polymorphism played an indispensable part in increasing the susceptibility of PCOS when carrying the C allele, which proposed that the polymorphism of the CYP17 gene may be a predictive factor for the risk of PCOS or an important pathway in PCOS-associated metabolic and hormonal dysregulation.

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Silan Zheng School of Medicine, Xiamen University, Xiamen, China

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Meifeng Tong Department of Endocrinology and Diabetes, The First Affiliated Hospital, Xiamen University, Xiamen, China

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Lianqin Dong The School of Clinical Medicine, Fujian Medical University, Fuzhou, China

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Chunmin Du School of Medicine, Xiamen University, Xiamen, China

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Xin Zheng Department of Endocrinology and Diabetes, The First Affiliated Hospital, Xiamen University, Xiamen, China

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Liying Wang Department of Endocrinology and Diabetes, The First Affiliated Hospital, Xiamen University, Xiamen, China

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Peiying Huang Department of Endocrinology and Diabetes, The First Affiliated Hospital, Xiamen University, Xiamen, China

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Wei Liu Department of Endocrinology and Diabetes, The First Affiliated Hospital, Xiamen University, Xiamen, China

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Mingzhu Lin Department of Endocrinology and Diabetes, The First Affiliated Hospital, Xiamen University, Xiamen, China

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Changqin Liu Department of Endocrinology and Diabetes, The First Affiliated Hospital, Xiamen University, Xiamen, China
The School of Clinical Medicine, Fujian Medical University, Fuzhou, China

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Objective

To explore the independent associations of the new adiposity indices lipid accumulation product (LAP) index, visceral adiposity index (VAI), and product of triglycerides and glucose (TyG) with the risks of hepatic steatosis (HS) in women with polycystic ovary syndrome (PCOS).

Design

This is a cross-sectional study with 101 women with PCOS undergoing controlled attenuation parameter (CAP) measurement who were recruited from November 2018 to August 2019. Multivariable logistic regression analysis was performed to determine the associations of adiposity indices with HS.

Result(s)

Among the 101 PCOS patients, the prevalence rate of HS was 70.3%. The PCOS patients with HS have higher percentage of overweight/obesity status, higher level of aminotransferase (AST and ALT), homeostasis model assessment of insulin resistance (HOMA-IR), LAP, VAI, TyG, waist circumference (WC), and BMI (P < 0.05). Partial correlation analysis showed LAP, WC and BMI were significantly positively associated with CAP (P < 0.05) after controlling for confounding factors. Besides, BMI, WC, and CAP were gradually elevated with the increase of LAP level. Further, multivariable logistic regression analysis showed adjusted odd ratio (OR) with associated 95% CI (OR (95% CI)) were respectively 1.09 (1.03–1.16) for LAP, 1.14 (1.05–1.23) for WC, 1.28 (1.08–1.51) for BMI, respectively.

Conclusions

The present study demonstrates that in women with PCOS, except for the traditional adiposity indices (WC and BMI), LAP is independently correlated with the risk of HS.

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Angelica Lindén Hirschberg Division of Obstetrics and Gynaecology, Department of Women’s and Children’s Health, Karolinska Institutet, Stockholm, Sweden
Department of Gynecology and Reproductive Medicine, Karolinska University Hospital, Stockholm, Sweden.

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Emerging evidence indicates that testosterone, which can increase muscle mass and strength, stimulates erythropoiesis, promotes competitive behaviour, and enhances the physical performance of women. Indeed, the levels of testosterone within the normal female range are related to muscle mass and athletic performance in female athletes. Furthermore, among these athletes, the prevalence of hyperandrogenic conditions, including both polycystic ovary syndrome and rare differences/disorders of sex development (DSD), which may greatly increase testosterone production, are elevated. Thus, if the androgen receptors of an individual with XY DSD are functional, her muscle mass will develop like that of a man. These findings have led to the proposal that essential hyperandrogenism is beneficial for athletic performance and plays a role in the choice by women to compete in athletic activities. Moreover, a recent randomized controlled trial demonstrated a significant increase in the lean mass and aerobic performance by young exercising women when their testosterone levels were enhanced moderately. Circulating testosterone is considered the strongest factor to explain the male advantage in sport performance, ranging between 10 and 20%. It appears to be unfair to allow female athletes with endogenous testosterone levels in the male range (i.e. 10–20 times higher than normal) to compete against those with normal female androgen levels. In 2012, this consideration led international organizations to establish eligibility regulations for the female classification in order to ensure fair and meaningful competition, but the regulations are controversial and have been challenged in court.

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