Search Results

You are looking at 111 - 120 of 483 items for

  • Abstract: adrenarche x
  • Abstract: amenorrhoea x
  • Abstract: fertility x
  • Abstract: Gender x
  • Abstract: Hypogonadism x
  • Abstract: infertility x
  • Abstract: Kallmann x
  • Abstract: Klinefelter x
  • Abstract: menarche x
  • Abstract: menopause x
  • Abstract: puberty x
  • Abstract: testes x
  • Abstract: Turner x
  • Abstract: ovary x
  • Abstract: follicles x
Clear All Modify Search
Meghnaa Hebbar College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom

Search for other papers by Meghnaa Hebbar in
Google Scholar
PubMed
Close
,
Halimah Khalil College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom

Search for other papers by Halimah Khalil in
Google Scholar
PubMed
Close
,
Nawal Zia College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom

Search for other papers by Nawal Zia in
Google Scholar
PubMed
Close
,
Jameela Sheikh College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom

Search for other papers by Jameela Sheikh in
Google Scholar
PubMed
Close
,
Eka Melson University of Leicester, Leicester, United Kingdom

Search for other papers by Eka Melson in
Google Scholar
PubMed
Close
,
Meri Davitadze Clinic NeoLab, Tbilisi, Georgia

Search for other papers by Meri Davitadze in
Google Scholar
PubMed
Close
,
Helena Gleeson Department of Endocrinology, Queen Elizabeth Hospital, University Hospitals Birmingham NHS Foundation Trust, Birmingham, United Kingdom

Search for other papers by Helena Gleeson in
Google Scholar
PubMed
Close
,
Tejal Lathia Apollo Hospitals, Mumbai, India

Search for other papers by Tejal Lathia in
Google Scholar
PubMed
Close
,
Chitra Selvan Department of Endocrinology, M S Ramaiah Medical College, Bengaluru, India

Search for other papers by Chitra Selvan in
Google Scholar
PubMed
Close
,
Punith Kempegowda Clinic NeoLab, Tbilisi, Georgia
Department of Endocrinology, Queen Elizabeth Hospital, University Hospitals Birmingham NHS Foundation Trust, Birmingham, United Kingdom

Search for other papers by Punith Kempegowda in
Google Scholar
PubMed
Close
, and
PCOS SEva Working Group
Search for other papers by PCOS SEva Working Group in
Google Scholar
PubMed
Close
PCOS SEva Working Group

With increasing evidence of emotional well-being disorders associated with polycystic ovary syndrome (PCOS), effective screening processes are of utmost importance. We studied the impact of using questionnaires to screen for emotional and psychosexual well-being across different models of care for PCOS. We analysed the data from the surveys to assess the difference in the prevalence of emotional and psychosexual ill-being across ethnicity and region. In this prospective cohort study, we invited all women attending consultations for PCOS in Birmingham, UK, and Bengaluru and Navi Mumbai, India. Those who consented to participate in the study were invited to complete a pre-clinic survey about socio-demographic data, Hospital Anxiety and Depression Scale (HADS), Body Image Concern Inventory (BICI), Beliefs about Obese Person scale (BAOP), and Female Sexual Function Index score (FSFI) and a post-clinic survey on clinic experience, lifestyle advice, and specialist referral. A total of 115 women were included in this study. The rate of questionnaire completion was 98.3% (113/115), 97.4% (112/115), 93.04% (107/115), and 84.3% (97/115) for HADS, BICI, BAOP, and FSFI, respectively. In the post-clinic survey, 28.8% reported they were screened for anxiety, 27.1% for depression, and 45.8% for body image concerns. The prevalence of anxiety, depression, and body dysmorphic disorder through pre-clinic survey was 56.5% (50.0% UK vs 59.5% India, P = 0.483), 16.5% (13.9% UK vs 17.7% India, P = 0.529), and 29.6% (36.1% UK vs 26.6% India, P = 0.208), respectively. Surveys with validated questionnaires can improve screening for emotional and psychosexual well-being associated with PCOS which may be missed by ad hoc screening during consultations.

Open access
Xiying Zeng The Third Clinical Medical College, Fujian Medical University, Fuzhou, China

Search for other papers by Xiying Zeng in
Google Scholar
PubMed
Close
,
Yinxiang Huang Department of Endocrinology and Diabetes, The First Affiliated Hospital, Xiamen University, Xiamen, China

Search for other papers by Yinxiang Huang in
Google Scholar
PubMed
Close
,
Mulin Zhang Department of Endocrinology and Diabetes, The First Affiliated Hospital, Xiamen University, Xiamen, China

Search for other papers by Mulin Zhang in
Google Scholar
PubMed
Close
,
Yun Chen The Third Clinical Medical College, Fujian Medical University, Fuzhou, China

Search for other papers by Yun Chen in
Google Scholar
PubMed
Close
,
Jiawen Ye The Third Clinical Medical College, Fujian Medical University, Fuzhou, China

Search for other papers by Jiawen Ye in
Google Scholar
PubMed
Close
,
Yan Han School of Medicine, Xiamen University, Xiamen, China

Search for other papers by Yan Han in
Google Scholar
PubMed
Close
,
Danyan Ma School of Medicine, Xiamen University, Xiamen, China

Search for other papers by Danyan Ma in
Google Scholar
PubMed
Close
,
Xin Zheng Department of Endocrinology and Diabetes, The First Affiliated Hospital, Xiamen University, Xiamen, China

Search for other papers by Xin Zheng in
Google Scholar
PubMed
Close
,
Xiaohong Yan Reproductive Medicine Center, The First Affiliated Hospital of Xiamen University, Xiamen, China

Search for other papers by Xiaohong Yan in
Google Scholar
PubMed
Close
, and
Changqin Liu The Third Clinical Medical College, Fujian Medical University, Fuzhou, China
Department of Endocrinology and Diabetes, The First Affiliated Hospital, Xiamen University, Xiamen, China
Fujian Province Key Laboratory of Diabetes Translational Medicine, Xiamen, China

Search for other papers by Changqin Liu in
Google Scholar
PubMed
Close

Objective

Anti-Müllerian hormone (AMH) is recognized as the most important biomarker for ovarian reserve. In this cross-sectional study, we aimed to explore the potential association of AMH with central obesity or general obesity in women with polycystic ovary syndrome (PCOS).

Methods

In this cross-sectional study, 179 patients with PCOS were enrolled and underwent anthropometric measurements (BMI and waist circumference (WC)) and serum AMH level detection. Pearson’s correlation and multivariable logistic regression analyses were performed to determine the associations of AMH with central obesity and general obesity.

Results

Subjects with increasing BMI showed significantly lower values of AMH (median (interquartile range (IQR)) 8.95 (6.03–13.60) ng/mL in normal weight group, 6.57 (4.18–8.77) ng/mL in overweight group, and 6.03 (4.34–9.44) ng/mL in obesity group, P = 0.001), but higher levels of systolic blood pressure, fasting insulin, total cholesterol, triglycerides, LDL-c, obesity indices (WC, hip circumferences, waist-to-hip ratio, waist-to-height ratio (WHtR), and Chinese visceral adiposity index (CVAI)). Compared with the group of PCOS women without central obesity, the group with central obesity had significantly lower value of AMH (median (IQR) 8.56 (5.29–12.96) ng/mL vs 6.22 (4.33–8.82) ng/mL; P = 0.003). Pearson’s correlation analysis showed that AMH was significantly and negatively correlated with BMI (r = −0.280; P < 0.001), WC (r = −0.263; P < 0.001), WHtR (r = −0.273; P < 0.001), and CVAI (r = −0.211; P = 0.006). Multivariate logistic regression analysis with adjustment for potential confounding factors showed that AMH was independently and negatively associated with central obesity but was not significantly associated with general obesity.

Conclusions

AMH was independently and negatively associated with central obesity. Closely monitoring the WC and AMH should be addressed in terms of assessing ovarian reserve in women with PCOS.

Open access
Mei Li Department of Pediatrics, The First Affiliated Hospital of Guangxi Medical University, Nanning, China

Search for other papers by Mei Li in
Google Scholar
PubMed
Close
,
Yanfei Chen Department of Pediatrics, The First Affiliated Hospital of Guangxi Medical University, Nanning, China

Search for other papers by Yanfei Chen in
Google Scholar
PubMed
Close
,
Binrong Liao Department of Pediatrics, The First Affiliated Hospital of Guangxi Medical University, Nanning, China

Search for other papers by Binrong Liao in
Google Scholar
PubMed
Close
,
Jing Tang Department of Pediatrics, The First Affiliated Hospital of Guangxi Medical University, Nanning, China

Search for other papers by Jing Tang in
Google Scholar
PubMed
Close
,
Jingzi Zhong Department of Pediatrics, The First Affiliated Hospital of Guangxi Medical University, Nanning, China

Search for other papers by Jingzi Zhong in
Google Scholar
PubMed
Close
, and
Dan Lan Department of Pediatrics, The First Affiliated Hospital of Guangxi Medical University, Nanning, China

Search for other papers by Dan Lan in
Google Scholar
PubMed
Close

Objective

To evaluate the characteristics and significance of serum kisspeptin and makorin ring finger protein 3 (MKRN3) levels for the diagnosis of central precocious puberty (CPP) in girls.

Method

Thirty four individuals with CPP, 17 individuals with premature thelarche (PT), and 28 age-matched prepubertal girls as normal control (NC) were recruited in this case–control study. Physical measurements included BMI and tests for breast, bone, and sexual characteristics. Biochemical measurements included serum LH, FSH, estradiol, insulin-like growth factor-1, MKRN3, and kisspeptin. Blood samples were taken from individuals with CPP and PT before the gonadotrophin-releasing hormone stimulation test and at 30, 60, 90, and 120 min after injection with triptorelin.

Results

Serum kisspeptin levels were higher in the CPP group when compared to the NC group (P = 0.020), while serum MKRN3 levels were lower in the two groups (P = 0.028). There were no significant differences between the CPP and PT groups as well as the PT and NC groups (all, P > 0.05). The cut-off value of serum kisspeptin differentiating patients with CPP from those without CPP was 0.40 nmol/L, with 82.4% sensitivity and 57.1% specificity, while the cut-off value of serum MKRN3 was 0.33 pmol/L, with 79.4% sensitivity and 53.6% specificity. The area under the curves (AUCs) of both kisspeptin and MKRN3 for differentiating those girls with CPP from PT were less than 0.5.

Conclusions

Serum levels of kisspeptin and MKRN3 may play an auxiliary role in predicting CPP. However, the two measurements were not able to differentiate girls with CPP from PT and prepubertal control. This study emphasizes the need to search for markers to simplify the accurate diagnosis of CPP in girls.

Open access
Imane Benabbad Endocrinology and Diabetes Unit, Eli Lilly, Neuilly-sur-Seine, France

Search for other papers by Imane Benabbad in
Google Scholar
PubMed
Close
,
Myriam Rosilio Endocrinology and Diabetes Unit, Eli Lilly, Neuilly-sur-Seine, France

Search for other papers by Myriam Rosilio in
Google Scholar
PubMed
Close
,
Maité Tauber Department Endocrine, Bone Diseases, Genetics, Obesity, and Gynecology Unit, Children’s Hospital, University Hospital, Toulouse, France

Search for other papers by Maité Tauber in
Google Scholar
PubMed
Close
,
Emmanuel Paris BioClinica, Lyon, France

Search for other papers by Emmanuel Paris in
Google Scholar
PubMed
Close
,
Anne Paulsen Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Universitaire Robert-Debré, Department of Pediatric Endocrinology and Diabetology, and Centre de Référence des Maladies Endocriniennes Rares de la Croissance, Paris, France

Search for other papers by Anne Paulsen in
Google Scholar
PubMed
Close
,
Lovisa Berggren Eli Lilly and Company, Bad Homburg, Germany

Search for other papers by Lovisa Berggren in
Google Scholar
PubMed
Close
,
Hiren Patel Eli Lilly and Company, Indianapolis, Indiana, USA

Search for other papers by Hiren Patel in
Google Scholar
PubMed
Close
,
Jean-Claude Carel Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Universitaire Robert-Debré, Department of Pediatric Endocrinology and Diabetology, and Centre de Référence des Maladies Endocriniennes Rares de la Croissance, Paris, France
Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Universitaire Robert-Debré, Department of Pediatric Endocrinology and Diabetology, and Centre de Référence des Maladies Endocriniennes Rares de la Croissance, Paris, France

Search for other papers by Jean-Claude Carel in
Google Scholar
PubMed
Close
, and
the Phoenix Study Group
Search for other papers by the Phoenix Study Group in
Google Scholar
PubMed
Close

Objective

There is a scarcity of data from randomised controlled trials on the association of growth hormone (GH) with gonadotrophin-releasing hormone agonists in idiopathic short stature (ISS), although this off-label use is common. We aimed to test whether delaying pubertal progression could increase near-adult height (NAH) in GH-treated patients with ISS.

Methods

Patients with ISS at puberty onset were randomised to GH with leuprorelin (combination, n = 46) or GH alone (n = 45). NAH standard deviation score (SDS) was the primary outcome measure. The French regulatory authority requested premature discontinuation of study treatments after approximately 2.4 years; patients from France were followed for safety.

Results

Mean (s.d.) baseline height SDS was −2.5 (0.5) in both groups, increasing at 2 years to −2.3 (0.6) with combination and −1.8 (0.7) with GH alone. NAH SDS was −1.8 (0.5) with combination (n = 19) and −1.9 (0.8) with GH alone (n = 16). Treatment-emergent adverse events and bone fractures occurred more frequently with combination than GH alone.

Conclusion

Due to premature discontinuation of treatments, statistical comparison of NAH SDS between the two cohorts was not possible. During the first 2–3 years of treatment, patients treated with the combination grew more slowly than those receiving GH alone. However, mean NAH SDS was similar in the two groups. No new GH-related safety concerns were revealed. A potentially deleterious effect of combined treatment on bone fracture incidence was identified.

Open access
Rossella Cannarella Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy

Search for other papers by Rossella Cannarella in
Google Scholar
PubMed
Close
,
Andrea Crafa Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy

Search for other papers by Andrea Crafa in
Google Scholar
PubMed
Close
,
Sandro La Vignera Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy

Search for other papers by Sandro La Vignera in
Google Scholar
PubMed
Close
,
Rosita A Condorelli Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy

Search for other papers by Rosita A Condorelli in
Google Scholar
PubMed
Close
, and
Aldo E Calogero Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy

Search for other papers by Aldo E Calogero in
Google Scholar
PubMed
Close

Background

Animal studies suggest that insulin-like growth factor 1 (IGF1) may influence the function of the hypothalamus–pituitary–testicular axis, especially in childhood, but the evidence in humans is scanty. Laron syndrome, a human model of IGF1 deficiency, may help to solve this issue.

Purpose

This systematic review aims to analyze puberty onset and progression, testicular volume, gonadotropin, and total testosterone serum levels, sperm parameters and fertility, and penile length in patients with Laron syndrome.

Methods

Specific keywords were used. All data on male patients with Laron syndrome were included.

Results

Seventeen articles matched the inclusion criteria and were entered in the analysis, for a total of 125 male patients. Puberty was absent in 8.9% and delayed in 35.6% of untreated patients of pubertal age. After onset, the duration of the pubertal process was prolonged in 76.9% of untreated patients. The growth spurt was absent in 52.6% and delayed in 31.6% of untreated patients. The testicular volume was small in the two patients who did not receive any treatment. Treatment with IGF1 increased gonadotropin and testosterone serum levels in five out of five patients of pubertal age. No effect was found in four out of four patients younger than 5 years. No study reported data on sperm parameters and fertility. Micropenis occurred in 67.2% of patients.

Conclusion and future perspectives

Delayed puberty is common in patients with Laron syndrome. The growth hormone–IGF1 axis may influence the time of puberty onset. Serum levels of IGF1 should be investigated in children with delayed puberty, scarce progression of testicular growth, and/or micropenis. IGF1 levels might be measured in children with delayed puberty, poor testicular growth, and/or micropenis.

Open access
Srdjan Pandurevic Division of Endocrinology and Diabetes Prevention and Care, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy
Department of Medical and Surgical Sciences (DIMEC), Alma Mater Studiorum University of Bologna, Bologna, Italy

Search for other papers by Srdjan Pandurevic in
Google Scholar
PubMed
Close
,
Ilaria Mancini Department of Medical and Surgical Sciences (DIMEC), Alma Mater Studiorum University of Bologna, Bologna, Italy
Unit of Gynecology and Obstetrics, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Italy

Search for other papers by Ilaria Mancini in
Google Scholar
PubMed
Close
,
Dimitri Mitselman Division of Endocrinology and Diabetes Prevention and Care, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy
Department of Medical and Surgical Sciences (DIMEC), Alma Mater Studiorum University of Bologna, Bologna, Italy

Search for other papers by Dimitri Mitselman in
Google Scholar
PubMed
Close
,
Matteo Magagnoli Division of Endocrinology and Diabetes Prevention and Care, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy
Department of Medical and Surgical Sciences (DIMEC), Alma Mater Studiorum University of Bologna, Bologna, Italy

Search for other papers by Matteo Magagnoli in
Google Scholar
PubMed
Close
,
Rita Teglia Division of Endocrinology and Diabetes Prevention and Care, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy
Department of Medical and Surgical Sciences (DIMEC), Alma Mater Studiorum University of Bologna, Bologna, Italy

Search for other papers by Rita Teglia in
Google Scholar
PubMed
Close
,
Roberta Fazzeri Division of Endocrinology and Diabetes Prevention and Care, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy
Department of Medical and Surgical Sciences (DIMEC), Alma Mater Studiorum University of Bologna, Bologna, Italy

Search for other papers by Roberta Fazzeri in
Google Scholar
PubMed
Close
,
Paola Dionese Division of Endocrinology and Diabetes Prevention and Care, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy
Department of Medical and Surgical Sciences (DIMEC), Alma Mater Studiorum University of Bologna, Bologna, Italy

Search for other papers by Paola Dionese in
Google Scholar
PubMed
Close
,
Carolina Cecchetti Division of Endocrinology and Diabetes Prevention and Care, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy
Department of Medical and Surgical Sciences (DIMEC), Alma Mater Studiorum University of Bologna, Bologna, Italy

Search for other papers by Carolina Cecchetti in
Google Scholar
PubMed
Close
,
Massimiliamo Caprio Department of Human Sciences and Quality of Life Promotion, San Raffaele Roma Open University, Rome, Italy
Laboratory of Cardiovascular Endocrinology, IRCCS San Raffaele, Rome, Italy

Search for other papers by Massimiliamo Caprio in
Google Scholar
PubMed
Close
,
Costanzo Moretti Department of Systems Medicine, Unit of Endocrinology, University of Rome Tor Vergata, Rome, Italy

Search for other papers by Costanzo Moretti in
Google Scholar
PubMed
Close
,
Justyna Sicinska Dermatology Clinic of CSK MSWiA Hospital, Warsaw, Poland

Search for other papers by Justyna Sicinska in
Google Scholar
PubMed
Close
,
Alessandro Agostini Department of Experimental, Diagnostic, and Specialty Medicine, University of Bologna, Bologna, Italy

Search for other papers by Alessandro Agostini in
Google Scholar
PubMed
Close
,
Domenica Gazineo Teaching Hospital, S. Orsola Hospital, Bologna, Italy

Search for other papers by Domenica Gazineo in
Google Scholar
PubMed
Close
,
Lea Godino Teaching Hospital, S. Orsola Hospital, Bologna, Italy

Search for other papers by Lea Godino in
Google Scholar
PubMed
Close
,
Ignacio Sajoux Epigenomics in Endocrinology and Nutrition Group, Instituto de Investigacion Sanitaria (IDIS), Complejo Hospitalario Universitario de Santiago (CHUS/SERGAS), Spain
Medical Department Pronokal Group, Barcelona, Spain

Search for other papers by Ignacio Sajoux in
Google Scholar
PubMed
Close
,
Flaminia Fanelli Division of Endocrinology and Diabetes Prevention and Care, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy
Department of Medical and Surgical Sciences (DIMEC), Alma Mater Studiorum University of Bologna, Bologna, Italy

Search for other papers by Flaminia Fanelli in
Google Scholar
PubMed
Close
,
Cristina M Meriggiola Department of Medical and Surgical Sciences (DIMEC), Alma Mater Studiorum University of Bologna, Bologna, Italy
Unit of Gynecology and Obstetrics, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Italy

Search for other papers by Cristina M Meriggiola in
Google Scholar
PubMed
Close
,
Uberto Pagotto Division of Endocrinology and Diabetes Prevention and Care, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy
Department of Medical and Surgical Sciences (DIMEC), Alma Mater Studiorum University of Bologna, Bologna, Italy

Search for other papers by Uberto Pagotto in
Google Scholar
PubMed
Close
, and
Alessandra Gambineri Division of Endocrinology and Diabetes Prevention and Care, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy
Department of Medical and Surgical Sciences (DIMEC), Alma Mater Studiorum University of Bologna, Bologna, Italy

Search for other papers by Alessandra Gambineri in
Google Scholar
PubMed
Close

Objective

The aim of this study isto assess the efficacy of a very low-calorie ketogenic diet (VLCKD) method vs a Mediterranean low-calorie diet (LCD) in obese polycystic ovary syndrome (PCOS) women of a reproductive age.

Design

Randomized controlled open-label trial was performed in this study. The treatment period was 16 weeks; VLCKD for 8 weeks then LCD for 8 weeks, according to the Pronokal® method (experimental group; n = 15) vs Mediterranean LCD for 16 weeks (control group; n = 15). Ovulation monitoring was carried out at baseline and after 16 weeks, while a clinical exam, bioelectrical impedance analysis (BIA), anthropometry, and biochemical analyses were performed at baseline, at week 8, and at week 16.

Results

BMI decreased significantly in both groups and to a major extent in the experimental group (−13.7% vs −5.1%, P = 0.0003). Significant differences between the experimental and the control groups were also observed in the reduction of waist circumference (−11.4% vs −2.9%), BIA-measured body fat (−24.0% vs −8.1%), and free testosterone (−30.4% vs −12.6%) after 16 weeks (P = 0.0008, P = 0.0176, and P = 0.0009, respectively). Homeostatic model assessment for insulin resistance significantly decreased only in the experimental group (P = 0.0238) but without significant differences with respect to the control group (−23% vs −13.2%, P > 0.05). At baseline, 38.5% of participants in the experimental group and 14.3% of participants in the control group had ovulation, which increased to 84.6% (P = 0.031) and 35.7% (P > 0.05) at the end of the study, respectively.

Conclusion

In obese PCOS patients, 16 weeks of VLCKD protocol with the Pronokal® method was more effective than Mediterranean LCD in reducing total and visceral fat, and in ameliorating hyperandrogenism and ovulatory dysfunction.

Significance statements

To the best of our knowledge, this is the first randomized controlled trial on the use of the VLCKD method in obese PCOS. It demonstrates the superiority of VLCKD with respect to Mediterranean LCD in reducing BMI with an almost selective reduction of fat mass and a unique effect of VLCKD in reducing visceral adiposity, insulin resistance, and in increasing SHBG with a consequent reduction of free testosterone. Interestingly, this study also demonstrates the superiority of the VLCKD protocol in improving ovulation, whose occurrence increased by 46.1% in the group treated by the VLCKD method against a rise of 21.4% in the group treated by Mediterranean LCD. This study extends the therapeutic approach possibilities in obese PCOS women.

Open access
Claus H Gravholt Department of Endocrinology, Aarhus University Hospital, Aarhus, Denmark
Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Medicine, Aarhus University, Aarhus, Denmark

Search for other papers by Claus H Gravholt in
Google Scholar
PubMed
Close
,
Alberto Ferlin Department of Medicine, Unit of Andrology and Reproductive Medicine, University of Padova, Padova, Italy

Search for other papers by Alberto Ferlin in
Google Scholar
PubMed
Close
,
Joerg Gromoll Centre of Reproductive Medicine and Andrology, Münster, Germany

Search for other papers by Joerg Gromoll in
Google Scholar
PubMed
Close
,
Anders Juul Department of Growth and Reproduction Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
Department of Clinical Medicine, Faculty of Health Sciences, University of Copenhagen, Copenhagen, Denmark

Search for other papers by Anders Juul in
Google Scholar
PubMed
Close
,
Armin Raznahan Section on Developmental Neurogenomics, National Institute of Mental Health Intramural Research Program, National Institutes of Health, Bethesda, Maryland, USA

Search for other papers by Armin Raznahan in
Google Scholar
PubMed
Close
,
Sophie van Rijn Clinical Neurodevelopmental Sciences, Leiden University, Leiden, The Netherlands and TRIXY Center of Expertise, Leiden University Treatment and Expertise Centre (LUBEC), Leiden, The Netherlands

Search for other papers by Sophie van Rijn in
Google Scholar
PubMed
Close
,
Alan D Rogol Department of Pediatrics, University of Virginia, Charlottesville, Virginia, USA

Search for other papers by Alan D Rogol in
Google Scholar
PubMed
Close
,
Anne Skakkebæk Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Medicine, Aarhus University, Aarhus, Denmark
Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark

Search for other papers by Anne Skakkebæk in
Google Scholar
PubMed
Close
,
Nicole Tartaglia Department of Pediatrics, Developmental Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA

Search for other papers by Nicole Tartaglia in
Google Scholar
PubMed
Close
, and
Hanna Swaab Clinical Neurodevelopmental Sciences, Leiden University, Leiden, The Netherlands and TRIXY Center of Expertise, Leiden University Treatment and Expertise Centre (LUBEC), Leiden, The Netherlands

Search for other papers by Hanna Swaab in
Google Scholar
PubMed
Close

The 3rd International Workshop on Klinefelter Syndrome, Trisomy X, and 47,XYY syndrome was held in Leiden, the Netherlands, on September 12–14, 2022.

Here, we review new data presented at the workshop and discuss scientific and clinical trajectories. We focus on shortcomings in knowledge and therefore point out future areas for research.

We focus on the genetics and genomics of supernumerary sex chromosome syndromes with new data being presented. Most knowledge centre specifically on Klinefelter syndrome, where aspects on testosterone deficiency and the relation to bone, muscle and fat were discussed, as was infertility and the treatment thereof. Both trisomy X and 47,XYY syndrome are frequently affected by infertility.

Transitioning of males with Klinefelter syndrome was addressed, as this seemingly simple process in practise is often difficult.

It is now realized that neurocognitive changes are pervasive in all supernumerary sex chromosome syndromes, which were extensively discussed. New intervention projects were also described, and exciting new data concerning these were presented.

Advocacy organizations were present, describing the enormous burden carried by parents when having to explain their child’s specific syndrome to most professionals whenever in contact with health care and education systems. It was also pointed out that most countries do not have health care systems that diagnose patients with supernumerary sex chromosome syndromes, thus pinpointing a clear deficiency in the current genetic testing and care models.

At the end of the workshop, a roadmap towards the development of new international clinical care guidelines for Klinefelter syndrome was decided.

Open access
Elena Galazzi IRCSS Istituto Auxologico Italiano, Laboratory of Endocrine and Metabolic Research and Division of Endocrine and Metabolic Diseases, Milan, Italy
Department of Clinical Sciences and Community Health, Università degli Studi, Milan, Italy

Search for other papers by Elena Galazzi in
Google Scholar
PubMed
Close
,
Paolo Duminuco IRCSS Istituto Auxologico Italiano, Laboratory of Endocrine and Metabolic Research and Division of Endocrine and Metabolic Diseases, Milan, Italy

Search for other papers by Paolo Duminuco in
Google Scholar
PubMed
Close
,
Mirella Moro IRCSS Istituto Auxologico Italiano, Laboratory of Endocrine and Metabolic Research and Division of Endocrine and Metabolic Diseases, Milan, Italy

Search for other papers by Mirella Moro in
Google Scholar
PubMed
Close
,
Fabiana Guizzardi IRCSS Istituto Auxologico Italiano, Laboratory of Endocrine and Metabolic Research and Division of Endocrine and Metabolic Diseases, Milan, Italy

Search for other papers by Fabiana Guizzardi in
Google Scholar
PubMed
Close
,
Nicoletta Marazzi IRCSS Istituto Auxologico Italiano, Laboratory for Auxo-Endocrinological Research, Milan, Italy

Search for other papers by Nicoletta Marazzi in
Google Scholar
PubMed
Close
,
Alessandro Sartorio IRCSS Istituto Auxologico Italiano, Laboratory for Auxo-Endocrinological Research, Milan, Italy
Division of Auxology and Metabolic Diseases, IRCSS Istituto Auxologico Italiano, Piancavallo (VB), Italy

Search for other papers by Alessandro Sartorio in
Google Scholar
PubMed
Close
,
Sabrina Avignone Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico di Milano, U.O.C Neuroradiologia, Milan, Italy

Search for other papers by Sabrina Avignone in
Google Scholar
PubMed
Close
,
Marco Bonomi IRCSS Istituto Auxologico Italiano, Laboratory of Endocrine and Metabolic Research and Division of Endocrine and Metabolic Diseases, Milan, Italy
Department of Clinical Sciences and Community Health, Università degli Studi, Milan, Italy

Search for other papers by Marco Bonomi in
Google Scholar
PubMed
Close
,
Luca Persani IRCSS Istituto Auxologico Italiano, Laboratory of Endocrine and Metabolic Research and Division of Endocrine and Metabolic Diseases, Milan, Italy
Department of Clinical Sciences and Community Health, Università degli Studi, Milan, Italy

Search for other papers by Luca Persani in
Google Scholar
PubMed
Close
, and
Maria Teresa Bonati IRCCS Istituto Auxologico Italiano, Service of Medical Genetics, Milan, Italy

Search for other papers by Maria Teresa Bonati in
Google Scholar
PubMed
Close

Ulnar-mammary syndrome (UMS) is characterized by ulnar defects, and nipple or apocrine gland hypoplasia, caused by TBX3 haploinsufficiency. Signs of hypogonadism were repeatedly reported, but the mechanisms remain elusive. We aim to assess the origin of hypogonadism in two families with UMS. UMS was suspected in two unrelated probands referred to an academic center with delayed puberty because of the evident ulnar ray and breast defects in their parents. Clinical, biochemical and genetic investigations proved the existence of congenital normosmic IHH (nIHH) associated with pituitary hypoplasia in the two probands who were heterozygous for novel TBX3 pathogenic variants. The mutations co-segregated with delayed puberty, midline defects (nose, teeth and tongue anomalies) and other variable features of UMS in the two families (absent axillary hairs and nipple hypoplasia, asymmetrical features including unilateral ulnar or renal abnormalities). The combined analysis of these findings and of the previous UMS reports showed delayed puberty and other signs of hypogonadism in 79 and 37% of UMS males, respectively. Proband 1 was followed up to adulthood with persistence of nIHH. In conclusion, UMS should be suspected in patients with delayed puberty and midline defects, including pituitary hypoplasia, in the presence of mild cues for TBX3 mutation, even in the absence of limb malformations. In addition, TBX3 should be included among candidate genes for congenital nIHH.

Open access
Sharmin Jahan Department of Medicine, Monash University, Melbourne, Victoria, Australia
Centre for Endocrinology and Metabolism, Hudson Institute of Medical Research, Victoria, Australia
Department of Endocrinology and Metabolism, BSMMU, Dhaka, Bangladesh

Search for other papers by Sharmin Jahan in
Google Scholar
PubMed
Close
,
Jun Yang Department of Medicine, Monash University, Melbourne, Victoria, Australia
Centre for Endocrinology and Metabolism, Hudson Institute of Medical Research, Victoria, Australia

Search for other papers by Jun Yang in
Google Scholar
PubMed
Close
,
Jinbo Hu Department of Endocrinology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China

Search for other papers by Jinbo Hu in
Google Scholar
PubMed
Close
,
Qifu Li Department of Endocrinology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China

Search for other papers by Qifu Li in
Google Scholar
PubMed
Close
, and
Peter J Fuller Centre for Endocrinology and Metabolism, Hudson Institute of Medical Research, Victoria, Australia

Search for other papers by Peter J Fuller in
Google Scholar
PubMed
Close

Primary aldosteronism (PA) is the most common cause of endocrine hypertension and is often underdiagnosed. This condition is associated with increased cardiovascular morbidity and mortality in comparison to age and blood pressure matched individuals with essential hypertension (EH). The diagnostic pathway for PA consists of three phases: screening, confirmatory testing, and subtyping. The lack of specificity in the screening step, which relies on the aldosterone to renin ratio, necessitates confirmatory testing. The Endocrine Society’s clinical practice guideline suggests four confirmatory tests, including the fludrocortisone suppression test (FST), saline suppression test (SST), captopril challenge test (CCT), and oral sodium loading test (SLT). There is no universally accepted choice of confirmatory test, with practices varying among centers. The SST and FST are commonly used, but they can be resource-intensive, carry risks such as volume overload or hypokalemia, and are contraindicated in severe/uncontrolled HTN as well as in cardiac and renal impairment. In contrast, CCT is a safe and inexpensive alternative that can be performed in an outpatient setting and can be applied when other tests are contraindicated. Despite its simplicity and convenience, the variability in captopril dose, testing posture, and diagnostic threshold limit its widespread use. This narrative review evaluates the diagnostic accuracy of the CCT across different populations, addresses controversies in its usage, and proposes recommendations for its use in the diagnosis of PA. Furthermore, suggestions for future research aimed at promoting the wider utilization of the CCT as a simpler, safer, and more cost-effective diagnostic test are discussed.

Open access
Amalie Carlsson Department of Growth and Reproduction, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
International Research and Research Training Center in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen, Denmark

Search for other papers by Amalie Carlsson in
Google Scholar
PubMed
Close
,
Kaspar Sørensen Department of Growth and Reproduction, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
The Child and Youth Clinic, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

Search for other papers by Kaspar Sørensen in
Google Scholar
PubMed
Close
,
Anna-Maria Andersson Department of Growth and Reproduction, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
International Research and Research Training Center in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen, Denmark

Search for other papers by Anna-Maria Andersson in
Google Scholar
PubMed
Close
,
Hanne Frederiksen Department of Growth and Reproduction, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
International Research and Research Training Center in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen, Denmark

Search for other papers by Hanne Frederiksen in
Google Scholar
PubMed
Close
, and
Anders Juul Department of Growth and Reproduction, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
International Research and Research Training Center in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen, Denmark

Search for other papers by Anders Juul in
Google Scholar
PubMed
Close

Introduction

Bisphenol A and several of the most commonly used phthalates have been associated with adverse metabolic health effects such as obesity and diabetes. Therefore, we analyzed these man-made chemicals in first morning urine samples from 107 healthy normal-weight Danish children and adolescents.

Method

This was a cross-sectional study. Participants were recruited as part of the Copenhagen Puberty Study. The subjects were evaluated by an oral glucose tolerance test (OGTT), a dual-energy X-ray absorptiometry (DXA) scan, direct oxygen uptake measurement during cycle ergometry and fasting blood samples. First morning urine was collected and phthalate metabolites and BPA were measured by liquid chromatography-tandem mass spectrometry (LC–MS/MS) with prior enzymatic deconjugation. Individual chemical concentrations were divided into tertiles and analyzed in relation to biological outcome.

Results

Children in the lowest tertile of urinary BPA had significantly higher peak insulin levels during OGTT (P = 0.01), lower insulin sensitivity index (P < 0.01), higher leptin (P = 0.03), triglyceride (P < 0.01) and total cholesterol levels (P = 0.04), lower aerobic fitness (P = 0.02) and a tendency toward higher fat mass index (P = 0.1) compared with children in the highest tertile for uBPA. No significant differences in anthropometrics, body composition or glucose metabolism were associated with any of the phthalate metabolites measured.

Conclusion

This pilot study on healthy normal-weight children suggests an inverse association between BPA and insulin resistance. Our findings contrast other cross-sectional studies showing a positive association for BPA, which may be due to confounding or reverse causation because diet is an important source of both BPA exposure and obesity.

Open access