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Delayed Recognition of Disorders of Sex Development (DSD) : A Missed Opportunity for Early Diagnosis of Malignant Germ Cell Tumors
Joint Authors
Looijenga, Leendert H. J.
Hersmus, Remko
White, Stefan J.
Stoop, Hans
Drop, Stenvert L. S.
Oosterhuis, J. Wolter
Wolffenbuttel, Katja P.
Incrocci, Luca
Source
International Journal of Endocrinology
Issue
Vol. 2012, Issue 2012 (31 Dec. 2012), pp.1-9, 9 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2012-01-19
Country of Publication
Egypt
No. of Pages
9
Main Subjects
Abstract EN
Disorders of sex development (DSD) are defined as a congenital condition in which development of chromosomal, gonadal or anatomical sex is atypical.
DSD patients with gonadal dysgenesis or hypovirilization, containing part of the Y chromosome (GBY), have an increased risk for malignant type II germ cell tumors (GCTs: seminomas and nonseminomas).
DSD may be diagnosed in newborns (e.g., ambiguous genitalia), or later in life, even at or after puberty.
Here we describe three independent male patients with a GCT; two were retrospectively recognized as DSD, based on the histological identification of both carcinoma in situ and gonadoblastoma in a single gonad as the cancer precursor.
Hypospadias and cryptorchidism in their history are consistent with this conclusion.
The power of recognition of these parameters is demonstrated by the third patient, in which the precursor lesion was diagnosed before progression to invasiveness.
Early recognition based on these clinical parameters could have prevented development of (metastatic) cancer, to be treated by systemic therapy.
All three patients showed a normal male 46,XY karyotype, without obvious genetic rearrangements by high-resolution whole-genome copy number analysis.
These cases demonstrate overlap between DSD and the so-called testicular dysgenesis syndrome (TDS), of significant relevance for identification of individuals at increased risk for development of a malignant GCT.
American Psychological Association (APA)
Hersmus, Remko& Stoop, Hans& White, Stefan J.& Drop, Stenvert L. S.& Oosterhuis, J. Wolter& Incrocci, Luca…[et al.]. 2012. Delayed Recognition of Disorders of Sex Development (DSD) : A Missed Opportunity for Early Diagnosis of Malignant Germ Cell Tumors. International Journal of Endocrinology،Vol. 2012, no. 2012, pp.1-9.
https://search.emarefa.net/detail/BIM-489171
Modern Language Association (MLA)
Hersmus, Remko…[et al.]. Delayed Recognition of Disorders of Sex Development (DSD) : A Missed Opportunity for Early Diagnosis of Malignant Germ Cell Tumors. International Journal of Endocrinology No. 2012 (2012), pp.1-9.
https://search.emarefa.net/detail/BIM-489171
American Medical Association (AMA)
Hersmus, Remko& Stoop, Hans& White, Stefan J.& Drop, Stenvert L. S.& Oosterhuis, J. Wolter& Incrocci, Luca…[et al.]. Delayed Recognition of Disorders of Sex Development (DSD) : A Missed Opportunity for Early Diagnosis of Malignant Germ Cell Tumors. International Journal of Endocrinology. 2012. Vol. 2012, no. 2012, pp.1-9.
https://search.emarefa.net/detail/BIM-489171
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-489171