Disorder of sex development with germ cell tumors: Which is uncovered first?

Background Disorders of sex development (DSD) are rare conditions. Although they are known to predispose to germ cell tumors (GCT), there is a paucity of information regarding the circumstances of DSD discovery. Design/methods All patients with DSD registered in two French pediatric GCT protocols (T...

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Published in:Pediatric blood & cancer 2020-04, Vol.67 (4), p.e28169-n/a
Main Authors: Faure‐Conter, Cécile, Orbach, Daniel, Fresneau, Brice, Verité, Cécile, Bonneau, Jacinthe, Thebaud, Estelle, Poirée, Maryline, Thouvenin, Sandrine, Pluchart, Claire, Mure, Pierre Yves, Dijoud, Frederique, Morel, Yves
Format: Article
Language:English
Subjects:
adolescence
Age
Amenorrhea
Diagnosis
Differences of sex development
disorder of sex development
Follicles
germ cell tumor
Gonadal dysgenesis
Hematology
Karyotypes
Klinefelter's syndrome
Menarche
Metastases
Mosaicism
Oncology
Pediatrics
Phenotypes
puberty
Testes
Tumors
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Summary:Background Disorders of sex development (DSD) are rare conditions. Although they are known to predispose to germ cell tumors (GCT), there is a paucity of information regarding the circumstances of DSD discovery. Design/methods All patients with DSD registered in two French pediatric GCT protocols (TGM95 and 13) were analyzed. Results Sixteen patients were identified among 276 ovarian, 160 testicular, and 24 mediastinal GCT. Eleven phenotypic females (median age 15 years) exhibited gonadal GCT, including 10 with a 46,XY karyotype and gonadal dysgenesis and one with 46XX,45X0 mosaicism. None had genital anomalies, seven had spontaneous pubertal changes, and one had spontaneous menarche. The tumors were bilateral in four cases. DSD was diagnosed after the GCT diagnosis in seven cases. The reasons for karyotyping were bilateral tumors (3), gonadoblastoma/streak gonad/absence of egg follicles (3), or systematic for GCT (1). The karyotyping was performed before the GCT diagnosis in four cases: for polymalformative syndrome (2) or primary amenorrhea (2). Four males (median age 14 years) exhibited mediastinal GCT (metastatic in two cases) indicative of Klinefelter syndrome, despite typical phenotypes in all cases. The remaining patient had severe hypospadias, leading to the discovery of 46,XY/45,X0 mosaicism before the diagnosis of testicular nonseminomatous GCT at 16 years of age. Conclusion DSD are often uncovered at the time of GCT diagnosis (11/16 cases). This should prompt oncologists to rule out a DSD in patients with GCT, even in case of pubertal development. Earlier recognition of Klinefelter syndrome could potentially lead to GCT detection at an earlier stage.
ISSN:1545-5009
1545-5017
DOI:10.1002/pbc.28169