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 …

Abstract In May 2014, the National Institutes of Health (NIH) stated its intent to “require
applicants to consider sex as a biological variable (SABV) in the design and analysis of NIH …

Hypospadias results from a failure of urethral closure in the male phallus and affects 1 in
200-300 boys. It is thought to be due to a combination of genetic and environmental factors …

Androgenic insensitivity syndrome is the most common cause of disorders of sexual
differentiation in 46, XY individuals. It results from alterations in the androgen receptor gene …

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

There is a need to better understand contemporary issues of nomenclature and group
construction around people with intersex variations shaping health research and practices …

Cell lineages of the early human gonad commit to one of the two mutually antagonistic
organogenetic fates, the testis or the ovary. Some individuals with a 46, XX karyotype …

Context The genetic basis of human sex development is slowly being elucidated, and> 40
different genetic causes of differences (or disorders) of sex development (DSDs) have now …

Background: In boys with suspected partial androgen insensitivity syndrome (PAIS),
systematic evidence that supports the long-term prognostic value of identifying a mutation in …

Dihydrotestosterone is a potent androgen metabolite formed from testosterone by action of
5α-reductase isoenzymes. Mutations in the type 2 isoenzyme cause a disorder of 46, XY sex …