Disorders of sex development : timing of diagnosis and management in a single large tertiary center

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Kohva , E , Miettinen , P J , Taskinen , S , Hero , M , Tarkkanen , A & Raivio , T 2018 , ' Disorders of sex development : timing of diagnosis and management in a single large tertiary center ' , Endocrine Connections , vol. 7 , no. 4 , pp. 595-603 . https://doi.org/10.1530/EC-18-0070

Title: Disorders of sex development : timing of diagnosis and management in a single large tertiary center
Author: Kohva, E.; Miettinen, P. J.; Taskinen, S.; Hero, M.; Tarkkanen, A.; Raivio, T.
Contributor organization: Raivio Group
Children's Hospital
Department of Physiology
University of Helsinki
Centre of Excellence in Stem Cell Metabolism
Timo Pyry Juhani Otonkoski / Principal Investigator
Lastenkirurgian yksikkö
HUS Children and Adolescents
Date: 2018-04-01
Language: eng
Number of pages: 9
Belongs to series: Endocrine Connections
ISSN: 2049-3614
DOI: https://doi.org/10.1530/EC-18-0070
URI: http://hdl.handle.net/10138/236627
Abstract: 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.
Subject: disorders of sex development
Turner syndrome
Klinefeker syndrome
3121 General medicine, internal medicine and other clinical medicine
Peer reviewed: Yes
Rights: cc_by_nc
Usage restriction: openAccess
Self-archived version: publishedVersion

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