Gender Differentiation and its Abnormalities
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The means by which the embryo differentiates is controlled by the sex chromosomes. This is known as genetic sex. The normal chromosome complement is 46, including 22 autosomes derived from each parent. An embryo that contains 45 chromosomes and has the sex chromosomes XY will develop as a male.
If the sex chromosomes are XX, the embryo will differentiate
into a female. The resulting development of the gonad will create either a
testis or an ovary. This is known as gonadal sex. Subsequent development of the
internal and external genitalia gives phenotypic sex or the sex of appearance.
Cerebral differentiation to a male or female orientation is known as brain sex.
Genetic Sex
In the developing embryo with a genetic complement of 46 XY, it is the presence of the Y chromosome that determines that the undifferentiated gonad will become a testis. Absence of the Y chromosome will result in the development of an ovary.
On the short arm of the
Y chromosome is a region known as the SRY gene, which is responsible for the
determination of testicular development as it produces a protein known as
testicular determining factor (TDF). TDF directly influences the
undifferentiated gonad to become a testis. When this process occurs, the testis
also produces Müllerian inhibitor.
The undifferentiated embryo contains both
Wolffian and Müllerian ducts. The Wolffian ducts have the potential to develop
into the internal organs of the male, and the Mullerian ducts into the internal
organs of the female. If the testis produces Müllerian inhibitor, the Mullerian
ducts regress.
The testis differentiates into two cell types, Leydig cells and Sertoli cells. The Sertoli cells are responsible for the production of Mullerian inhibitor, which leads to Mullerian regression. The Leydig cells produce testosterone, which promotes the development of the Wolffian duct, leading to the development of was deferens, the epididymis and the seminal vesicles.
Testosterone by itself does not have a different effect
on the cloaca; In order to exert its androgenic effects, it needs to be
converted by the cloacal cells through the enzyme 5u-reductase to
dihydrotestosterone. These androgenic effects lead to the development of the
penis and the scrotum,
The absence of Y chromosome and the presence
of two X chromosomes mean that Müllerian inhibitor is not created, and the
Müllerian ducts persist in the female. The absence of testosterone means that
the Wolffian ducts regress, and the failure of androgen to affect the cloaca
leads to an external female phenotype.
Abnormal Development
Any aberration in development that results in
an unexpected developmental sequence of events may be mediated in a number of
ways.
Chromosome Abnormalities
In an embryo that loses one of its sex chromosomes, the total complement of chromosomes will be reduced to 45, leaving a viable fetus only where this is 45 XO (Turner's syndrome). Here, the absence of the second X chromosome or Y chromosome means there is no testicular development and therefore the phenotype is female.
The gonad is, however,
unable to complete its development and, although it initially differentiates to
be an ovary, the oogonia are unable to complete their development and at birth
only the stroma of the ovary is present (streak ovaries). Thus, in Turner's
syndrome, the absence of a functional ovary means that there is no estrogen
production at puberty, and secondary sexual characteristics cannot develop.
As the genes involved in achieving final height are shared by the sex chromosomes, the absence of one sex chromosome will also lead to short stature. In females who have an XY karyotype, a mutation at the site on the short arm of the Y chromosome resulting in failure of production of TDF will mean there is no testicular development (XY gonadal agenesis).
The default phenotypic state is female. In these circumstances, the
absence of a testis means that the internal genitalia will persist as a result
of the development of Müllerian structures, and the Wolffian ducts will
regress. The external genitalia will be female.
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