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2014 ; 10
(10
): 603-15
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DSDs: genetics, underlying pathologies and psychosexual differentiation
#MMPMID25091731
Arboleda VA
; Sandberg DE
; Vilain E
Nat Rev Endocrinol
2014[Oct]; 10
(10
): 603-15
PMID25091731
show ga
Mammalian sex determination is the unique process whereby a single organ, the
bipotential gonad, undergoes a developmental switch that promotes its
differentiation into either a testis or an ovary. Disruptions of this complex
genetic process during human development can manifest as disorders of sex
development (DSDs). Sex development can be divided into two distinct processes:
sex determination, in which the bipotential gonads form either testes or ovaries,
and sex differentiation, in which the fully formed testes or ovaries secrete
local and hormonal factors to drive differentiation of internal and external
genitals, as well as extragonadal tissues such as the brain. DSDs can arise from
a number of genetic lesions, which manifest as a spectrum of gonadal (gonadal
dysgenesis to ovotestis) and genital (mild hypospadias or clitoromegaly to
ambiguous genitalia) phenotypes. The physical attributes and medical implications
associated with DSDs confront families of affected newborns with decisions, such
as gender of rearing or genital surgery, and additional concerns, such as
uncertainty over the child's psychosexual development and personal wishes later
in life. In this Review, we discuss the underlying genetics of human sex
determination and focus on emerging data, genetic classification of DSDs and
other considerations that surround gender development and identity in individuals
with DSDs.
|Animals
[MESH]
|Disorders of Sex Development/*diagnosis/*genetics
[MESH]