ArticleInternational journal of endocrinology2012
Delayed Recognition of Disorders of Sex Development (DSD): A Missed Opportunity for Early Diagnosis of Malignant Germ Cell Tumors.
Article in International journal of endocrinology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed.
- Validation of DSD Interpreter, a Mobile Application for Point-of-Care Evaluation of Infants with Atypical Genitalia.Indian journal of pediatrics · 2026Article
- Navigating Ambiguous Genitalia: A Case of Dysgerminoma in an Afghan Boy.International medical case reports journal · 2025Article
- Predicting Gonadal Germ Cell Cancer in People with Disorders of Sex Development; Insights from Developmental Biology.International journal of molecular sciences · 2019Review
- Human germ cell tumours from a developmental perspective.Nature reviews. Cancer · 2019Review
- Disorders of sex development: timing of diagnosis and management in a single large tertiary center.Endocrine connections · 2018Article
- Malignancy in disorders of sex development.Translational andrology and urology · 2016Review
- Testicular biopsy in prepubertal boys: a worthwhile minor surgical procedure?Nature reviews. Urology · 2016Review
- Maintenance of Drosophila germline stem cell sexual identity in oogenesis and tumorigenesis.Development (Cambridge, England) · 2015Article
- Mutation analysis of mitogen activated protein kinase 1 gene in Indian cases of 46,XY disorder of sex development.Indian journal of human genetics · 2013Article
- Perinatal germ cell development and differentiation in the male marmoset (Callithrix jacchus): similarities with the human and differences from the rat.Human reproduction (Oxford, England) · 2013Article
- MicroRNAs and Recent Insights into Pediatric Ovarian Cancers.Frontiers in oncology · 2013Article
- Article
Corrections and comments
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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.
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