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André Marques-Pinto Serviço de Endocrinologia, Departamento de Endocrinologia, Faculdade de Medicina da Universidade do Porto, Al. Prof. Hernâni Monteiro, 4200-319 Porto, Portugal

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Davide Carvalho Serviço de Endocrinologia, Departamento de Endocrinologia, Faculdade de Medicina da Universidade do Porto, Al. Prof. Hernâni Monteiro, 4200-319 Porto, Portugal
Serviço de Endocrinologia, Departamento de Endocrinologia, Faculdade de Medicina da Universidade do Porto, Al. Prof. Hernâni Monteiro, 4200-319 Porto, Portugal

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testicular dysgenesis syndrome There is an epidemiological correspondence between lower semen quality and higher incidences of cryptorchidism, hypospadias and testicular cancer (116) . These disorders have been regrouped as the testicular dysgenesis syndrome

Article Type:
Review Article
DOI:
https://doi.org/10.1530/EC-13-0036
Volume/Issue:
Volume 2: Issue 3
Open access
Tristan Avril Pediatric Endocrinology Department, CHU Bicetre, Assistance Publique-Hôpitaux de Paris, Reference Center for Rare Disease CRMR DevGen, Le Kremlin Bicêtre, Paris, France

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Quentin Hennocq Datascience platform, Imagine Institute, Université Paris Cité, Paris, France

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Anne-Sophie Lambert Pediatric Endocrinology Department, CHU Bicetre, Assistance Publique-Hôpitaux de Paris, Reference Center for Rare Disease CRMR DevGen, Le Kremlin Bicêtre, Paris, France

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Juliane Leger Pediatric Endocrinology Department, CHU Robert Debré, Assistance Publique-Hôpitaux de Paris, Reference Center for Rare Disease CRMR de la Croissance et du Développement, Paris, France
Université Paris Cité, Faculté de Santé, UFR de Médecine, Paris, France

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Dominique Simon Pediatric Endocrinology Department, CHU Robert Debré, Assistance Publique-Hôpitaux de Paris, Reference Center for Rare Disease CRMR de la Croissance et du Développement, Paris, France

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Laetitia Martinerie Pediatric Endocrinology Department, CHU Robert Debré, Assistance Publique-Hôpitaux de Paris, Reference Center for Rare Disease CRMR de la Croissance et du Développement, Paris, France
Université Paris Cité, Faculté de Santé, UFR de Médecine, Paris, France
Inserm UMR1185, Le Kremlin Bicetre, Paris, France

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Claire Bouvattier Pediatric Endocrinology Department, CHU Bicetre, Assistance Publique-Hôpitaux de Paris, Reference Center for Rare Disease CRMR DevGen, Le Kremlin Bicêtre, Paris, France
Inserm UMR1185, Le Kremlin Bicetre, Paris, France
Paris-Saclay University, Paris, France

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cryptorchidism ( 1 ). It can be isolated or part of a combined pituitary hormone deficiency (CPHD) ( 2 ) and is usually in relation to a dysfunction in gonadotropin-releasing hormone (GnRH) secretion or action. The major clinical consequences of CHH are pubertal

Article Type:
Research Article
Collections:
Reproduction
DOI:
https://doi.org/10.1530/EC-22-0252
Volume/Issue:
Volume 12: Issue 4
Open access
Bruno Donadille Service d’Endocrinologie et Médecine de la Reproduction, Centre de Référence des Maladies Endocrines Rares de la Croissance, Hôpital Saint Antoine, Groupe Hospitalier Universitaire Est, AP-HP, Paris, France

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Muriel Houang Service d’Explorations Fonctionnelles Endocriniennes, Centre de Référence des Maladies Endocrines Rares de la Croissance, Hôpital Trousseau, Groupe Hospitalier Universitaire Est, AP-HP, Paris, France

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Irène Netchine Service d’Explorations Fonctionnelles Endocriniennes, Centre de Référence des Maladies Endocrines Rares de la Croissance, Hôpital Trousseau, Groupe Hospitalier Universitaire Est, AP-HP, Paris, France
Université Pierre et Marie Curie, Sorbonne Université, Paris, France

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Jean-Pierre Siffroi Université Pierre et Marie Curie, Sorbonne Université, Paris, France
INSERM UMR_S933, Paris, France

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Sophie Christin-Maitre Service d’Endocrinologie et Médecine de la Reproduction, Centre de Référence des Maladies Endocrines Rares de la Croissance, Hôpital Saint Antoine, Groupe Hospitalier Universitaire Est, AP-HP, Paris, France
Université Pierre et Marie Curie, Sorbonne Université, Paris, France
INSERM UMR_S933, Paris, France

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Spermogram was reported in a single publication, in a patient carrying a severe HSD3B2 mutation (A10E) ( 11 ). Although his puberty had been normal and he had no past history of cryptorchidism, azoospermia as well as testicular adrenal rests tumours (TART

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0306
Volume/Issue:
Volume 7: Issue 3
Open access
Zofia Kolesinska Department of Pediatric Endocrinology and Rheumatology, Poznan University of Medical Sciences, Poznan, Poland

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James Acierno Jr Endocrinology, Diabetology & Metabolism Service, Lausanne University Hospital, Lausanne, Switzerland

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S Faisal Ahmed Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, Glasgow, UK

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Cheng Xu Endocrinology, Diabetology & Metabolism Service, Lausanne University Hospital, Lausanne, Switzerland

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Karina Kapczuk Division of Gynecology, Department of Perinatology and Gynecology, Poznan University of Medical Sciences, Poznan, Poland

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Anna Skorczyk-Werner Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland

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Hanna Mikos Department of Pediatric Endocrinology and Rheumatology, Poznan University of Medical Sciences, Poznan, Poland

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Aleksandra Rojek Department of Pediatric Endocrinology and Rheumatology, Poznan University of Medical Sciences, Poznan, Poland

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Andreas Massouras Saphetor, SA, Lausanne, Switzerland

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Maciej R Krawczynski Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland

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Nelly Pitteloud Endocrinology, Diabetology & Metabolism Service, Lausanne University Hospital, Lausanne, Switzerland

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Marek Niedziela Department of Pediatric Endocrinology and Rheumatology, Poznan University of Medical Sciences, Poznan, Poland

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supplementary data given at the end of this article), a condition that shares some clinical presentations with DSD (i.e. cryptorchidism or micropenis) to further study their contribution. Reference transcript numbers for all genes evaluated are noted in

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0472
Volume/Issue:
Volume 7: Issue 12
Open access
Iben Katinka Greiber Department of Growth and Reproduction, EDMaRC, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Casper P Hagen Department of Growth and Reproduction, EDMaRC, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Alexander Siegfried Busch Department of Growth and Reproduction, EDMaRC, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Mikkel Grunnet Mieritz Department of Growth and Reproduction, EDMaRC, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Lise Aksglæde Department of Growth and Reproduction, EDMaRC, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Katharina Main Department of Growth and Reproduction, EDMaRC, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Kristian Almstrup Department of Growth and Reproduction, EDMaRC, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Anders Juul Department of Growth and Reproduction, EDMaRC, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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persistent Müllerian duct syndrome (PMDS) often including bilateral cryptorchidism but otherwise normal virilization of external genitalia ( 7 ). In postnatal life, serum levels of AMH are high during childhood but decline rapidly during puberty when the

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0299
Volume/Issue:
Volume 7: Issue 2
Open access
Catarina I Gonçalves CICS-UBI, Health Sciences Research Centre, University of Beira Interior, Covilhã, Portugal

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José M Aragüés Serviço de Endocrinologia, Diabetes e Metabolismo, Hospital de Santa Maria, Lisboa, Portugal

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Margarida Bastos Serviço de Endocrinologia, Diabetes e Metabolismo, Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal

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Luísa Barros Serviço de Endocrinologia, Diabetes e Metabolismo, Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal

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Nuno Vicente Serviço de Endocrinologia, Diabetes e Metabolismo, Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal

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Davide Carvalho Serviço de Endocrinologia, Diabetes e Metabolismo, Hospital de São João e Faculdade de Medicina do Porto, Instituto de Investigação e Inovação em Saúde da Universidade do Porto, Porto, Portugal

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Manuel C Lemos CICS-UBI, Health Sciences Research Centre, University of Beira Interior, Covilhã, Portugal

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) Mutations 1 II-3 M 18.5 Delayed puberty. Micropenis. Tanner stage 3. Testicular volume 3 mL Normal Surgery for right-sided cryptorchidism at age 1.5 years FSH 1.2 IU/mL (1.0–8.0); LH 0.5 IU/mL (0.7–7.2); total testosterone 0.20 ng

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0104
Volume/Issue:
Volume 6: Issue 6
Open access
Agnieszka Pazderska Department of Endocrinology, Newcastle-upon-Tyne Hospitals, Newcastle upon Tyne, UK
Department of Endocrinology, St James’s Hospital, Dublin, Ireland

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Yaasir Mamoojee Department of Endocrinology, Newcastle-upon-Tyne Hospitals, Newcastle upon Tyne, UK

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Satish Artham Department of Endocrinology, Newcastle-upon-Tyne Hospitals, Newcastle upon Tyne, UK

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Margaret Miller Department of Endocrinology, Newcastle-upon-Tyne Hospitals, Newcastle upon Tyne, UK

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Stephen G Ball Department of Endocrinology, Central Manchester University Hospitals, Manchester, UK
Department of Endocrinology, University of Manchester, Manchester, UK

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Tim Cheetham Endocrine Research Group, Institute of Genetic Medicine, University of Newcastle-upon-Tyne, Newcastle upon Tyne, UK
Department of Paediatric Endocrinology & Diabetes, Newcastle-upon-Tyne Hospitals, Newcastle upon Tyne, UK

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Richard Quinton Department of Endocrinology, Newcastle-upon-Tyne Hospitals, Newcastle upon Tyne, UK
Endocrine Research Group, Institute of Genetic Medicine, University of Newcastle-upon-Tyne, Newcastle upon Tyne, UK

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cryptorchidism, or any apubertal man in his third decade or beyond), feeding them into the DPQC pathway merely imposes unnecessary delays. Regimes envisaged and designed for teenagers with suspected CDP offer frustratingly slow progress for older CHH men, who

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0241
Volume/Issue:
Volume 7: Issue 1
Open access
Mikkel Andreassen Department of Endocrinology, Faculty of Health Science, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Anders Juul Department of Growth and Reproduction, Faculty of Health Science, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Ulla Feldt-Rasmussen Department of Endocrinology, Faculty of Health Science, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Niels Jørgensen Department of Growth and Reproduction, Faculty of Health Science, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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hypogonadism ( 16 ). Exclusion criteria were previous or ongoing treatment with testosterone or gonadotropins, onset of testosterone deficiency before puberty and testicular disease including cryptorchidism. Twenty patients were included in the study and 27

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0061
Volume/Issue:
Volume 7: Issue 4
Open access
Lukas Plachy Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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Petra Dusatkova Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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Klara Maratova Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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Shenali Anne Amaratunga Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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Dana Zemkova Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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Vit Neuman Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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Stanislava Kolouskova Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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Barbora Obermannova Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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Marta Snajderova Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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Zdenek Sumnik Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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Jan Lebl Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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Stepanka Pruhova Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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anophtalmia, PMR, cryptorchidism 2.3 −4.4 −4.0 −3.1 −3.8 2 M 13.1 −1.7 1.1 CHT, CAI, HH Pituitary hyperplasia – 3.5 −3.4 −1.3 +0.3 +1.0 3 M 10.3 BDL 0.3 CHT NA Neonatal hypoglycaemia 1.1 −5.4 −3

Article Type:
Research Article
Collections:
Pituitary and Hypothalamus
DOI:
https://doi.org/10.1530/EC-24-0217
Volume/Issue:
Volume 13: Issue 10
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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. The use of AMH levels in males in clinical practice has not been defined and requires further study. Thus far, AMH levels appear to be useful in differentiating non-obstructive azoospermia from obstructive azoospermia, anorchidism from cryptorchidism

Article Type:
Research Article
Collections:
Reproduction
DOI:
https://doi.org/10.1530/EC-23-0510
Volume/Issue:
Volume 13: Issue 9
Open access