ESPEYB17 6. Differences/Disorders of Sex Development and Transgender Medicine Differences/Disorders of Sex Development: Clinical Studies (3 abstracts)
6.11. Disorder of sex development with germ cell tumors: Which is uncovered first?
Faure-Conter C , Orbach D , Fresneau B , Verite C , Bonneau J , Thebaud E , Poiree M , Thouvenin S , Pluchart C , Mure PY , Dijoud F & Morel Y
To read the full abstract: Pediatr Blood Cancer. 2020, Apr; 67: e28169. doi: https://www.ncbi.nlm.nih.gov/pubmed/32020769
This thought-provoking paper looked at the malignancy risk in DSD from a different perspective. In this study, patients with malignant germ cell tumors (GCT) were identified in registries of pediatric GCT treatment from 1995 to 2005 and were then cross-referenced with DSD diagnoses. A total of 276 ovarian, 160 testicular, and 24 mediastinal germ cell tumor patients were identified. Among those, 16 individuals had a DSD diagnosis. In 11 of these 16 cases, the DSD diagnosis was unknown at the time of the tumor diagnosis. In addition, in 11 cases the tumor was located at the ovarian site and observed in females with non-ambiguous phenotype. Klinefelter syndrome was diagnosed in 4/24 cases with mediastinal germ cell cancer. Only one person with a DSD (operated for hypospadias) had testicular germ cell cancer, which may be an underestimation since not all cases had karyotyping. The median age of individuals with GCT and DSD was 15 years, although one patient was only 6 years of age. The median age for the entire cohort was younger, 12.8 years.
The study illustrates that the clinical identification of patients with a DSD and a GCT tumor can be difficult, since hormone production from the tumor may be the first presentation and mimic pubertal development. It is well known that individuals with a DSD diagnosis carry an increased tumor risk. This study stresses that clinicians following individuals with DSD should be aware that pubertal development, including breast development, could be due to hormone production by a tumor. Conversely, oncologists should rule out a DSD diagnosis, especially in patients with a GCT in a mediastinal or ovarian location.
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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