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 …

Differences/disorders of sex development (DSD) are a heterogeneous group of congenital
conditions that result in discordance between an individual's sex chromosomes, gonads …

Reaching a firm diagnosis is vital for the long-term management of a patient with a
difference or disorder of sex development (DSD). This is especially the case in XY DSD …

The medical and psychosocial challenges faced by patients living with
Disorders/Differences of Sex Development (DSD) and their families can be alleviated by a …

MAMLD1 is thought to cause disordered sex development in 46, XY patients. But its role is
controversial because some MAMLD1 variants are also detected in normal individuals …

A region of 160 kb at Xp21. 2 has been defined as dosage-sensitive sex reversal (DSS) and
includes the NR0B1 gene, considered to be the candidate gene involved in XY gonadal …

Small copy number variations (CNVs) have typically not been analyzed or reported in
clinical settings and hence have remained underrepresented in databases and the …

Overview of genetics of disorders of sexual development : Current Opinion in Pediatrics
Overview of genetics of disorders of sexual development : Current Opinion in Pediatrics Log …

The 46, XY differences of sex development (46, XY DSD) can result either from decreased
synthesis of testosterone and/or DHT or from impairment of androgen action. 46, XY DSD …

Objetivos El desarrollo de las características sexuales femeninas o masculinas acontece
durante la vida fetal, determinándose el sexo genético, el gonadal y el sexo genital interno y …