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Alan D Rogol Department of Pediatrics, University of Virginia, Charlottesville, Virginia, USA

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karyotype were live born. In fact, the 45,X karyotype is the single most common chromosomal aneuploidy noted for fetal loss ( 2 ). The purpose of this review is to explore the fertility aspects of the sex chromosome trisomies XXY, XYY, and XXX, with

Article Type:
Review Article
Collections:
Reproduction
DOI:
https://doi.org/10.1530/EC-22-0440
Volume/Issue:
Volume 12: Issue 9
Open access
Małgorzata Więcek Department of Pediatrics and Pediatric Endocrinology, Faculty of Medical Sciences, Medical University of Silesia, Katowice, Poland

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Jakub Gawlik Student Scientific Society at the Department of Pathophysiology, Jagiellonian University Medical College, Krakow, Poland

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Zuzanna Nowak Student Scientific Society at the Department of Pathophysiology, Jagiellonian University Medical College, Krakow, Poland

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Aneta Gawlik Department of Pediatrics and Pediatric Endocrinology, Faculty of Medical Sciences, Medical University of Silesia, Katowice, Poland

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cardiovascular status, fertility preservation (FP) is one of the most important issues during the transition process in TS. With the advent of assisted reproductive technologies (ARTs), medicine brought new hope for these patients. However, due to the limited and

Article Type:
Review Article
Collections:
Reproduction
DOI:
https://doi.org/10.1530/EC-22-0344
Volume/Issue:
Volume 11: Issue 12
Open access
Hans Valdemar López Krabbe Department of Growth and Reproduction, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark

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Jørgen Holm Petersen Department of Growth and Reproduction, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
Section of Biostatistics, University of Copenhagen, Copenhagen, Denmark

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Louise Laub Asserhøj Department of Growth and Reproduction, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
Department of Fertility, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark

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Trine Holm Johannsen Department of Growth and Reproduction, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark

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Peter Christiansen Department of Growth and Reproduction, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark

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Rikke Beck Jensen Department of Growth and Reproduction, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark

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Line Hartvig Cleemann Department of Growth and Reproduction, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark

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Casper P Hagen Department of Growth and Reproduction, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark

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Lærke Priskorn Department of Growth and Reproduction, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark

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Niels Jørgensen Department of Growth and Reproduction, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark

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Katharina M Main Department of Growth and Reproduction, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark

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Anders Juul Department of Growth and Reproduction, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark

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Lise Aksglaede Department of Growth and Reproduction, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark

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Adult patients with Klinefelter syndrome (KS) are characterized by a highly variable phenotype, including tall stature, obesity, and hypergonadotropic hypogonadism, as well as an increased risk of developing insulin resistance, metabolic syndrome, and osteoporosis. Most adults need testosterone replacement therapy (TRT), whereas the use of TRT during puberty has been debated. In this retrospective, observational study, reproductive hormones and whole-body dual-energy x-ray absorptiometry-derived body composition and bone mineral content were standardized to age-related standard deviation scores in 62 patients with KS aged 5.9–20.6 years. Serum concentrations of total testosterone and inhibin B were low, whereas luteinizing hormone and follicle-stimulating hormone were high in patients before TRT. Despite normal body mass index, body fat percentage and the ratio between android fat percentage and gynoid fat percentage were significantly higher in the entire group irrespective of treatment status. In patients evaluated before and during TRT, a tendency toward a more beneficial body composition with a significant reduction in the ratio between android fat percentage and gynoid fat percentage during TRT was found. Bone mineral content (BMC) did not differ from the reference, but BMC corrected for bone area was significantly lower when compared to the reference. This study confirms that patients with KS have an unfavorable body composition and an impaired bone mineral status already during childhood and adolescence. Systematic studies are needed to evaluate whether TRT during puberty will improve these parameters.

Article Type:
Research Article
Collections:
Reproduction
DOI:
https://doi.org/10.1530/EC-23-0031
Volume/Issue:
Volume 12: Issue 7
Open access
Pamela Stratton Office of the Clinical Director, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA

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Neelam Giri Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA

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Sonia Bhala Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA

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Martha M Sklavos Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick, Maryland, USA

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Blanche P Alter Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA

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Sharon A Savage Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA

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Ligia A Pinto Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick, Maryland, USA

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infertile on evaluation by fertility specialists. Two other patients with FA have married since the date of AMH testing, but neither have children with one reporting infertility on evaluation by specialists. Overall, none of the patients with FA had fathered

Article Type:
Research Article
Collections:
Reproduction
DOI:
https://doi.org/10.1530/EC-23-0510
Volume/Issue:
Volume 13: Issue 9
Open access
Lukas Ochsner Ridder Department of Endocrinology and Internal Medicine and Medical Research Laboratories, Aarhus University Hospital, Aarhus, Denmark
Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark

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Agnethe Berglund Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Genetics and Clinical Medicine, Aarhus University Hospital, Aarhus, Denmark

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Kirstine Stochholm Department of Endocrinology and Internal Medicine and Medical Research Laboratories, Aarhus University Hospital, Aarhus, Denmark

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Simon Chang Department of Endocrinology and Internal Medicine and Medical Research Laboratories, Aarhus University Hospital, Aarhus, Denmark
Unit for Thrombosis Research, Hospital of South West Jutland and University of Southern Denmark, Esbjerg, Denmark

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Claus H Gravholt Department of Endocrinology and Internal Medicine and Medical Research Laboratories, Aarhus University Hospital, Aarhus, Denmark
Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Unit for Thrombosis Research, Hospital of South West Jutland and University of Southern Denmark, Esbjerg, Denmark

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, most likely related to consultations in fertility clinics. The fertility rate among 47,XYY is higher than in KS, likely resulting in the identification of fewer cases through young adult years. An estimated 87% of KS patients have the 47,XXY karyotype

Article Type:
Review Article
Collections:
Reproduction
DOI:
https://doi.org/10.1530/EC-23-0024
Volume/Issue:
Volume 12: Issue 5
Open access
Nathalie Ly Department of Endocrinology and Reproductive Medicine, Reference Center for Rare Endocrine Diseases of Growth and Development, Reference Center for Gynecological Rare Diseases, Hôpitaux Universitaires Pitié Salpêtrière-Charles Foix, Paris, France
EndoERN, APHP Consortium Pitie Salpetriere Hospital, Necker Hospital, Paris, France

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Sophie Dubreuil Department of Endocrinology and Reproductive Medicine, Reference Center for Rare Endocrine Diseases of Growth and Development, Reference Center for Gynecological Rare Diseases, Hôpitaux Universitaires Pitié Salpêtrière-Charles Foix, Paris, France
EndoERN, APHP Consortium Pitie Salpetriere Hospital, Necker Hospital, Paris, France

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Philippe Touraine Department of Endocrinology and Reproductive Medicine, Reference Center for Rare Endocrine Diseases of Growth and Development, Reference Center for Gynecological Rare Diseases, Hôpitaux Universitaires Pitié Salpêtrière-Charles Foix, Paris, France
EndoERN, APHP Consortium Pitie Salpetriere Hospital, Necker Hospital, Paris, France
Sorbonne University, Paris, France

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correlation between GH levels in the follicular fluid and oocyte capacity to evolve into a good-quality embryo ( 8 ). The GH–IGF axis integrity is not mandatory for spontaneous fertility: spontaneous pregnancies have been described in women with GH

Article Type:
Research Article
Collections:
Reproduction
DOI:
https://doi.org/10.1530/EC-22-0241
Volume/Issue:
Volume 11: Issue 12
Open access
Jennifer K Y Ko Department of Obstetrics and Gynecology, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China

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Jinghua Shi Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Beijing, China

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Raymond H W Li Department of Obstetrics and Gynecology, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China

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William S B Yeung Department of Obstetrics and Gynecology, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China

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Ernest H Y Ng Department of Obstetrics and Gynecology, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China

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2007 23 179 – 185 . ( https://doi.org/10.1111/j.1600-0781.2007.00302.x ) 2 Lerchbaum E Obermayer-Pietsch B . Vitamin D and fertility: a systematic review . European Journal of Endocrinology 2012 166 765 – 778 . ( https://doi.org/10.1530/EJE-11

Article Type:
Research Article
Collections:
Reproduction
DOI:
https://doi.org/10.1530/EC-21-0444
Volume/Issue:
Volume 11: Issue 2
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

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Alberto Ferlin Department of Medicine, Unit of Andrology and Reproductive Medicine, University of Padova, Padova, Italy

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Joerg Gromoll Centre of Reproductive Medicine and Andrology, Münster, Germany

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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

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Armin Raznahan Section on Developmental Neurogenomics, National Institute of Mental Health Intramural Research Program, National Institutes of Health, Bethesda, Maryland, USA

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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

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Alan D Rogol Department of Pediatrics, University of Virginia, Charlottesville, Virginia, USA

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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

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Nicole Tartaglia Department of Pediatrics, Developmental Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA

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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

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RCTs, focusing on advantages and drawbacks to early vs late start of TRT, including focus on issues like fertility and neurocognition. Supernumerary sex chromosome syndromes, fertility and testicular function Klinefelter syndrome has been

Article Type:
Review Article
Collections:
Reproduction
DOI:
https://doi.org/10.1530/EC-22-0500
Volume/Issue:
Volume 12: Issue 3
Open access
Michael C Velarde Institute of Biology, College of Science, University of the Philippines Diliman, Quezon, Metro Manila, Philippines

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Mikaela Erlinda M Bucu Department of Obstetrics and Gynecology, College of Medicine, University of the Philippines Manila, Metro Manila, Philippines

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Maria Antonia E Habana Department of Obstetrics and Gynecology, College of Medicine, University of the Philippines Manila, Metro Manila, Philippines

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endometriosis, laparoscopic excision surgery remains an important form of treatment, especially for improving fertility in women with endometriosis ( 4 , 11 ). The difficulty in detection and the high cost of medications and treatments then become a strong

Article Type:
Review Article
Collections:
Reproduction
DOI:
https://doi.org/10.1530/EC-23-0169
Volume/Issue:
Volume 12: Issue 11
Open access
R H M Dykgraaf Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands

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S Schalekamp-Timmermans Division of Obstetrics and Fetal Medicine, Department of Obstetrics and Gynecology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands
Generation R Study Group, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands

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M C Adank Division of Obstetrics and Fetal Medicine, Department of Obstetrics and Gynecology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands
Generation R Study Group, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands

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S A A van den Berg Department of Clinical Chemistry, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands
Department of Internal Medicine, Academic Center for Thyroid Diseases, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands

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B M N van de Lang-Born Department of Clinical Chemistry, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands
Department of Internal Medicine, Academic Center for Thyroid Diseases, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands

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T I M Korevaar Department of Internal Medicine, Academic Center for Thyroid Diseases, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands

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A Kumar Ansh Labs, Webster, Texas, USA

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B Kalra Ansh Labs, Webster, Texas, USA

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G V Savjani Ansh Labs, Webster, Texas, USA

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E A P Steegers Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands
Division of Obstetrics and Fetal Medicine, Department of Obstetrics and Gynecology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands

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Y V Louwers Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands

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J S E Laven Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands

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(iii) university or college ( 39 ). Body mass index (BMI; in kg/m 2 ) was calculated from length and weight measured at enrolment. Obstetrical history included information on parity and fertility treatment. Statistical analyses Non

Article Type:
Research Article
Collections:
Reproduction
DOI:
https://doi.org/10.1530/EC-22-0320
Volume/Issue:
Volume 12: Issue 3
Open access