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1. The X and Y chromosomes are
the sex chromosomes in humans.
Women have two X chromosomes
(XX), while men have one X
chromosome and one Y
chromosome (XY).
2. The presence or absence of the Y
chromosome determines the
individual's sex.
 During the development of the embryo, if the
sperm fertilizes the egg with an X
chromosome, the resulting zygote will be XX
and will develop into a female. If the sperm
fertilizes the egg with a Y chromosome, the
resulting zygote will be XY and will develop
into a male.
 During embryonic development, the presence
of a Y chromosome triggers the development
of testes in males, which in turn produce
testosterone, a hormone that is responsible
for the development of male secondary
sexual characteristics.
 In the absence of a Y chromosome, the
embryo will develop into a female, and the
ovaries will develop, which produce estrogen
and progesterone, hormones responsible for
the development of female secondary sexual
characteristics.
 Female- Default development. Mesonephric duct
degenerates and Paramesonephric duct develops.
 Male
 SRY gene on Y chromosome—produces testis-
determining factor testes. Sertoli cells secrete
Mullerian inhibitory factor (MIF, also called
antimullerian hormone) that suppresses
development of paramesonephric ducts.
 Leydig cells secrete androgens that stimulate
 development of mesonephric ducts.
 Develops into male internal structures (except
 prostate)—Seminal vesicles, Epididymis,
 Ejaculatory duct, Ductus deferens
 Develops into female internal structures—
fallopian tubes, uterus, proximal vagina
(distal vagina from urogenital sinus). Male
remnant is appendix testis.
 1º amenorrhea with absent uterus, blind
vaginal pouch, normal female external
genitalia and 2° sexual characteristics
(functional ovaries). Associated with urinary
tract anomalies (eg, renal agenesias)
Early in embryonic development in females,
one of the two X chromosomes is randomly
and permanently inactivated in cells other
than egg cells. This phenomenon is called X-
inactivation or lyonization. X-
inactivation ensures that females, like males,
have one functional copy of the X
chromosome in each body cell.

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lec 3.pptx

  • 1.
  • 2. 1. The X and Y chromosomes are the sex chromosomes in humans. Women have two X chromosomes (XX), while men have one X chromosome and one Y chromosome (XY). 2. The presence or absence of the Y chromosome determines the individual's sex.
  • 3.  During the development of the embryo, if the sperm fertilizes the egg with an X chromosome, the resulting zygote will be XX and will develop into a female. If the sperm fertilizes the egg with a Y chromosome, the resulting zygote will be XY and will develop into a male.
  • 4.  During embryonic development, the presence of a Y chromosome triggers the development of testes in males, which in turn produce testosterone, a hormone that is responsible for the development of male secondary sexual characteristics.
  • 5.  In the absence of a Y chromosome, the embryo will develop into a female, and the ovaries will develop, which produce estrogen and progesterone, hormones responsible for the development of female secondary sexual characteristics.
  • 6.  Female- Default development. Mesonephric duct degenerates and Paramesonephric duct develops.  Male  SRY gene on Y chromosome—produces testis- determining factor testes. Sertoli cells secrete Mullerian inhibitory factor (MIF, also called antimullerian hormone) that suppresses development of paramesonephric ducts.  Leydig cells secrete androgens that stimulate  development of mesonephric ducts.
  • 7.
  • 8.
  • 9.  Develops into male internal structures (except  prostate)—Seminal vesicles, Epididymis,  Ejaculatory duct, Ductus deferens
  • 10.  Develops into female internal structures— fallopian tubes, uterus, proximal vagina (distal vagina from urogenital sinus). Male remnant is appendix testis.
  • 11.  1º amenorrhea with absent uterus, blind vaginal pouch, normal female external genitalia and 2° sexual characteristics (functional ovaries). Associated with urinary tract anomalies (eg, renal agenesias)
  • 12.
  • 13. Early in embryonic development in females, one of the two X chromosomes is randomly and permanently inactivated in cells other than egg cells. This phenomenon is called X- inactivation or lyonization. X- inactivation ensures that females, like males, have one functional copy of the X chromosome in each body cell.