Search for other papers by Mikkel Andreassen in
Google Scholar
PubMed
Search for other papers by Anders Juul in
Google Scholar
PubMed
Search for other papers by Ulla Feldt-Rasmussen in
Google Scholar
PubMed
Search for other papers by Niels Jørgensen in
Google Scholar
PubMed
result in testosterone deficiency at some point ( 6 , 7 ). However, little is known about how and when deterioration of semen quality occurs in these patients. Previous studies have primarily examined semen quality in prolactinoma patients with
Search for other papers by M Axelstad in
Google Scholar
PubMed
Search for other papers by U Hass in
Google Scholar
PubMed
Search for other papers by M Scholze in
Google Scholar
PubMed
Search for other papers by S Christiansen in
Google Scholar
PubMed
Search for other papers by A Kortenkamp in
Google Scholar
PubMed
Search for other papers by J Boberg in
Google Scholar
PubMed
Introduction Human semen quality is declining in many parts of the world, and this has recently been confirmed by a comprehensive meta-analysis showing declining sperm counts in North America, Europe, Australia and New Zealand over the last
Search for other papers by Sidsel Mathiesen in
Google Scholar
PubMed
Search for other papers by Kaspar Sørensen in
Google Scholar
PubMed
Search for other papers by Marianne Ifversen in
Google Scholar
PubMed
Search for other papers by Casper P Hagen in
Google Scholar
PubMed
Section of Biostatistics, Department of Public Health, University of Copenhagen, Copenhagen, Denmark
Search for other papers by Jørgen Holm Petersen in
Google Scholar
PubMed
Search for other papers by Anders Juul in
Google Scholar
PubMed
Search for other papers by Klaus Müller in
Google Scholar
PubMed
of which some were prepubertal at last follow-up), the follow-up times were limited (median age at last follow-up 14–19 years), and importantly, none of the studies included semen quality data. Moreover, no previous studies have investigated pubertal
Faculty of Medicine, Department of Physiology, University of Helsinki, Helsinki, Finland
Search for other papers by E Kohva in
Google Scholar
PubMed
Search for other papers by P J Miettinen in
Google Scholar
PubMed
Department of Pediatric Surgery, Children’s Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
Search for other papers by S Taskinen in
Google Scholar
PubMed
Search for other papers by M Hero in
Google Scholar
PubMed
Faculty of Medicine, Department of Physiology, University of Helsinki, Helsinki, Finland
Search for other papers by A Tarkkanen in
Google Scholar
PubMed
Faculty of Medicine, Department of Physiology, University of Helsinki, Helsinki, Finland
Search for other papers by T Raivio in
Google Scholar
PubMed
Background
We describe the phenotypic spectrum and timing of diagnosis and management in a large series of patients with disorders of sexual development (DSD) treated in a single pediatric tertiary center.
Methods
DSD patients who had visited our tertiary center during the survey period (between 2004 and 2014) were identified based on an ICD-10 inquiry, and their phenotypic and molecular genetic findings were recorded from patient charts.
Results
Among the 550 DSD patients, 53.3% had 46,XY DSD; 37.1% had sex chromosome DSD and 9.6% had 46,XX DSD. The most common diagnoses were Turner syndrome (19.8%, diagnosed at the mean age of 4.7 ± 5.5 years), Klinefelter syndrome (14.5%, 6.8 ± 6.2 years) and bilateral cryptorchidism (23.1%). Very few patients with 46,XY DSD (7%) or 46,XX DSD (21%) had molecular genetic diagnosis. The yearly rate of DSD diagnoses remained stable over the survey period. After the release of the Nordic consensus on the management of undescended testes, the age at surgery for bilateral cryptorchidism declined significantly (P < 0.001).
Conclusions
Our results show that (i) Turner syndrome and Klinefelter syndrome, the most frequent single DSD diagnoses, are still diagnosed relatively late; (ii) a temporal shift was observed in the management of bilateral cryptorchidism, which may favorably influence patients’ adulthood semen quality and (iii) next-generation sequencing methods are not fully employed in the diagnostics of DSD patients.
Search for other papers by Yanling Cai in
Google Scholar
PubMed
Search for other papers by Yan Yang in
Google Scholar
PubMed
Search for other papers by Xiao Pang in
Google Scholar
PubMed
Search for other papers by Suping Li in
Google Scholar
PubMed
focused on this effect and reported the effect of RAI on sex hormones and semen quality parameters in male DTC patients ( 7 , 8 , 9 , 10 , 11 , 12 , 14 ), the sample size of single studies is small, and the differences between studies are large. To
Search for other papers by André Marques-Pinto in
Google Scholar
PubMed
Serviço de Endocrinologia, Departamento de Endocrinologia, Faculdade de Medicina da Universidade do Porto, Al. Prof. Hernâni Monteiro, 4200-319 Porto, Portugal
Search for other papers by Davide Carvalho in
Google Scholar
PubMed
induces poor semen quality up to the fourth generation (86) . ED exposure in pregnant females can directly cause detrimental effects in the next two generations through the foetus and its germline, which is already formed. Only adverse effects in the
Department of Urology, Foundation IRCCS Ca’ Granda – Ospedale Maggiore Policlinico, University of Milan, Milan, Italy
Search for other papers by Luca Boeri in
Google Scholar
PubMed
Search for other papers by Paolo Capogrosso in
Google Scholar
PubMed
University Vita-Salute San Raffaele, Milan, Italy
Search for other papers by Walter Cazzaniga in
Google Scholar
PubMed
University Vita-Salute San Raffaele, Milan, Italy
Search for other papers by Edoardo Pozzi in
Google Scholar
PubMed
University Vita-Salute San Raffaele, Milan, Italy
Search for other papers by Luigi Candela in
Google Scholar
PubMed
University Vita-Salute San Raffaele, Milan, Italy
Search for other papers by Federico Belladelli in
Google Scholar
PubMed
University Vita-Salute San Raffaele, Milan, Italy
Search for other papers by Davide Oreggia in
Google Scholar
PubMed
Search for other papers by Eugenio Ventimiglia in
Google Scholar
PubMed
University Vita-Salute San Raffaele, Milan, Italy
Search for other papers by Nicolò Schifano in
Google Scholar
PubMed
University Vita-Salute San Raffaele, Milan, Italy
Search for other papers by Giuseppe Fallara in
Google Scholar
PubMed
Search for other papers by Marina Pontillo in
Google Scholar
PubMed
Search for other papers by Costantino Abbate in
Google Scholar
PubMed
Search for other papers by Emanuele Montanari in
Google Scholar
PubMed
University Vita-Salute San Raffaele, Milan, Italy
Search for other papers by Francesco Montorsi in
Google Scholar
PubMed
University Vita-Salute San Raffaele, Milan, Italy
Search for other papers by Andrea Salonia in
Google Scholar
PubMed
YJ Chen L Ge YF , et al . Body mass index, waist-to-hip ratio, waist circumference and waist-to-height ratio cannot predict male semen quality: a report of 1231 subfertile Chinese men . Andrologia 2015 47 1047 – 1054 . ( https
Search for other papers by Morten Ruge in
Google Scholar
PubMed
Search for other papers by Tea Skaaby in
Google Scholar
PubMed
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Search for other papers by Anna-Maria Andersson in
Google Scholar
PubMed
Department of Clinical Experimental Research, Rigshospitalet, Copenhagen, Denmark
Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
Search for other papers by Allan Linneberg in
Google Scholar
PubMed
Hansen AM Rod NH , et al . Association of sleep disturbances with reduced semen quality: a cross-sectional study among 953 healthy young Danish men . American Journal of Epidemiology 2013 177 1027 – 1037 . ( https://doi.org/10.1093/aje/kws420
Search for other papers by M von Wolff in
Google Scholar
PubMed
Laboratory of Biometry, University of Thessaly, Volos, Greece
Search for other papers by C T Nakas in
Google Scholar
PubMed
Division of Pneumology, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland
Search for other papers by M Tobler in
Google Scholar
PubMed
Search for other papers by T M Merz in
Google Scholar
PubMed
Search for other papers by M P Hilty in
Google Scholar
PubMed
Search for other papers by J D Veldhuis in
Google Scholar
PubMed
Search for other papers by A R Huber in
Google Scholar
PubMed
Search for other papers by J Pichler Hefti in
Google Scholar
PubMed
. Kathmandu University Medical Journal 2013 11 18 – 21 . 10 He J Cui J Wang R Gao L Gao X Yang L Zhang Q Cao J Yu W. Exposure to hypoxia at high altitude (5380 m) for 1 year induces reversible effects on semen quality and serum reproductive hormone
Search for other papers by Renea A Taylor in
Google Scholar
PubMed
Search for other papers by Jennifer Lo in
Google Scholar
PubMed
Search for other papers by Natasha Ascui in
Google Scholar
PubMed
Search for other papers by Matthew J Watt in
Google Scholar
PubMed
:10.1038/nrc2174 ). 63 Chavarro JE Toth TL Wright DL Meeker JD Hauser R . Body mass index in relation to semen quality, sperm DNA integrity, and serum reproductive hormone levels among men attending an infertility clinic . Fertility and