The term differences of sex development (DSDs; also known as disorders of sex
development) refers to a heterogeneous group of congenital conditions affecting human sex …

The differential diagnosis of differences or disorders of sex development (DSD) belongs to
the most complex fields in medicine. It requires a multidisciplinary team conducting a …

Disorders of sex development (DSDs) are conditions affecting development of the gonads or
genitalia. Variants in two key genes, SRY and its target SOX9, are an established cause of …

The reproductive endocrine systems are vastly different between males and females. This
sexual dimorphism of the endocrine milieu originates from sex-specific differentiation of the …

Disorders of sexual development (DSD) are rare congenital conditions in which
chromosomal, gonadal, or anatomical sex is atypical. Currently, less than 20% of patients …

Despite considerable research effort and significant advances in sequencing technologies,
the majority of disorders of sex development (DSD) cases still lack a molecular genetic …

Abstract CREB-binding protein (CBP, CREBBP, KAT3A) and its closely related paralogue
p300 (EP300, KAT3B), together termed p300/CBP, are histone/lysine acetyl-transferases …

Mammalian sex determination hinges on sexually dimorphic transcriptional programs in
developing fetal gonads. A comprehensive view of these programs is crucial for …

Variants in the NR5A1 gene encoding SF1 have been described in a diverse spectrum of
disorders of sex development (DSD). Recently, we reported the use of a targeted gene …

The elegant developmental biology experiments conducted in the 1940s by French
physiologist Alfred Jost demonstrated that the sexual phenotype of a mammalian embryo …