De novo 9q33 microdeletion identified by array-comparative genomic hybridization in a foetus with sex reversal and congenital heart defects

摘要

Disorders of sex development (DSDs) constitute a spectrum of abnormalities that affect the genitourinary tract and the endocrine-reproductive system. Several genes are involved in sex development, among which is the NR5A1 gene. It maps to 9q33 and plays a key role in regulating adrenal and gonadal development, steroido-genesis and reproduction (Lin et al., 2006). Moreover, during early male development, NR5A1 positively regulates the expression of two other genes involved in male sex determination and differentiation: sry-box 9 (SOX9) and anti-Mullerian hormone {AMR) (Sekido and Lovell-Badge, 2008). NR5A1 is also expressed in Sertoli and Leydig cells of the developing testis, suggesting that dosage-sensitive or domain-specific effects of NR5A1 are important in human testicular development and function (Lin and Achermann, 2008; Kohler et a/., 2009).