Searchable abstracts of presentations at key conferences in endocrinology
Endocrine Abstracts (2014) 35 S14.3 | DOI: 10.1530/endoabs.35.S14.3

ECE2014 Symposia Clinical outcome of medical intervention in Disorder of Sex Development (DSD) (3 abstracts)

Developmental disruption of paracrine hormone regulation in the pathogenesis of germ cell neoplasms

Ewa Rajpert-De Meyts


Copenhagen University Hospital (Rigshospitalet), Copenhagen, Denmark.


The most common testicular germ cell tumours (TGCT), seminoma or non-seminoma, occur in young adults and are derived from an intratubular precursor, carcinoma in situ testis (CIS). CIS cells display characteristics of developmentally arrested fetal gonocytes which during puberty acquire some features of more mature germ cells. Developing germ cells are under control of their somatic niche (Sertoli- and peri-tubular cells) and androgen-producing Leydig cells. A developmental disruption of this cross-communication, which is most pronounced in genetic disorders of sex development (DSD), leads to the maturation arrest and later neoplastic transformation of gonocytes. Among the disrupted pathways, the SRY function, the androgen signalling, and the sex-dimorphic mitosis–meiosis switch have been identified. In normally virilised men with TGCT and no overt signs of DSD, except a history of cryptorchidism, mild hypospadias and/or fertility problems, more subtle signs of gonadal dysgenesis are commonly found, consistent with a notion that testicular dysgenesis syndrome (TDS) is a milder manifestation of DSD. The aetiology of the rising incidence of TGCTs and milder TDS phenotypes remains to be elucidated, but involves predominantly environmental/lifestyle factors that target germ cell development. Modulation by genomic variation and epigenetic factors may explain the individual- and population-level differences in the prevalence of TGCT.

Article tools

My recent searches

No recent searches.

Authors