Sex

Determination
in Animals and
Humans
Sex Determination • After knowing the difference between the
anatomical features of the adult male and
female reproductive systems, we must
also explore the embryonic development,
males and females must take distinctly
different paths in forming their
reproductive anatomies and ultimately
establishing their sex.
• the establishment of the sex of an
organism
• Specification of sex (male or female)
through sex-determining mechanisms
including chromosomal, genic, and
environmental sex-determining systems.
• the developmental process in which the
sex of a bipotential embryo is fixed or
determined through the sex
chromosomes contained or other
mechanisms. Contoso 2
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Sex Determination Mechanisms in Animals
• Most organisms that create offspring
using sexual reproduction have two
sexes, but in determining these sexes,
they do employ different
mechanisms.
• Early development is similar in both
male and female embryos, with sexual
differences only appearing at later
stages.
• mechanisms of sex determination
• Environmental/Non-genetic Sex
Determination
• Chromosomal Sex Determination

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Environmental/Non-genetic Sex Determination
• Zygotes do not differ
genetically
• Sex is determined by
environmental factors such as
temperature, location and the
presence of other members of
the species
• Types
• Temperature dependent
• Location dependent Contoso 4
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Temperature-dependent Sex Determination
• Sex is determined after fertilization, by the
embryonic environment
• In some animals (turtles, alligators, crocodiles, some
lizards etc.) the temperature at which eggs are
incubated during a certain period of development
has a decisive effect on sex of animals that hatch
from them. Small changes in temperature can cause
dramatic changes in the sex ratio.
• Often, eggs incubated at low temperatures produce
one sex, whereas eggs incubated at higher
temperatures produce the other.
• There is only a small range of temperatures that
permits both males and females to hatch from the
same brood of eggs
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Temperature-dependent Sex Determination
• Most species turtles produces only
females at high (30-35°C) and only males
at low (23-28°C). Incubation of eggs at
intermediate temperatures(28-30°C)
produce both males and females.
• Ex. Emys orbicularis- European pond
turtle, Emys eggs at temperatures above
30°C produces all females, whereas
temperatures below 25°C produce all-
male broods
• Only males at high(>33°C) and only
females at low(<30°C) temperatures.
Intermediate temperatures(30-33°C)
produces both males and females
• Ex. many species of crocodiles and
alligators and in some species of lizards
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Temperature-dependent Sex Determination
• Only females at high(30-35°C) and low
(<25°C) temperatures. At intermediate
temperatures, both males and females
are produced, but at some
intermediate temperatures, only
males are produced.
• Ex. Australian crocodile, snapping
turtles

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Location-dependent sex determination
• Sex determination in some organisms such as sea
worm (Bonellia and Dinophilus) is governed by
environmental conditions or locations and also
includes some hormonal effects.
• In this type the male and female have the same
chromosomes
• Ex. Bonellia viridis – marine (green spoon worm)
• In Bonellia, the larvae which remain free in the sea water
and settle on the sea bottom are differentiated into
females while those larvae which settle on the proboscis
of female develop into tiny males.
• Possibly a hormone is secreted from the proboscis of
female to initiate male sexual differentiation

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Chromosomal Sex Determination
• This mechanism is common in mammals, in insects and in
birds.
• Sex is determined by chromosomes and is established at the
time an egg is fertilized by a sperm.
• Male and female individuals differ from each other in respect to
either the number or morphology of the homologues of one
chromosome pair, referred to as sex chromosome or allosome –
X & Y, but in some birds we have Z and W.
• In humans for instance, each diploid cell has 46 chromosomes
(23 pairs), including 22 pairs of autosomes (non-sex
chromosomes) and one pair of sex chromosomes or allosome.
• Autosomes - Chromosomes which do not differ in morphology and
number in male and female
• Allosomes or sex chromosomes - Chromosomes which differ in
morphology and number in male and female and contain genes that
determine sex
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Chromosomal Sex Determination
• Sex with similar type of sex chromosomes (XX)
is known as homogametic sex and with
dissimilar type of sex chromosomes (XY) as
heterogametic sex.
• There are different systems of allosomal sex
determination
• XX-XO female-male system
• XO-XX female-male system
• ZW-ZZ female-male system
• Haplodiploidy system [Diploid (2n) female,Haploid (n)
male]
• XX-XY female-male system

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Chromosomal Sex Determination
XX-XO female-male system
• This is common to Grasshoppers and many
orthopteran and hemipteran insects
• In this system, the female has double X
chromosomes (XX) and male has single X
chromosome (XO)
• Female is homogametic and produces all
the eggs with X chromosome.
• The male is heterogametic, which produces
sperms half of which have X chromosome
and other half have none.
• Union of egg with sperm having X
chromosome will give rise to female sex
and union of an egg with sperm having no
X results in development of male sex
• Sex is determined by the male parent
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Chromosomal Sex Determination
XO-XX female-male system
• Known in a few insect species, e.g., Fumea
• Females are heterogametic (producing two kinds of eggs, half with a X chromosome
and half without any X chromosome), so the females has only one X chromosome
(XO)
• On the other hand, male has two X chromosomes and produces all the sperms with
one X chromosome. Thus, male sex is homogametic
• Union of X sperm with ovum having an X chromosome gives rise to male sex and
union of X sperm with ovum having no X leads to development of female
• Sex is determined by the female parent

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Chromosomal Sex Determination
ZW-ZZ female-male system
• Common in Birds, butterflies and moths
• Female is heterogametic and produces
two types of gametes - Z and W types
• Male is homogametic and produces all the
sperms of same type carrying one Z
chromosome
• Union of Z sperm with an egg having a Z
chromosome gives rise to male and union
of Z sperm with an egg carrying a W
chromosome leads to the development of
female sex Contoso 13
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Chromosomal Sex Determination
Haplodiploidy system [Diploid (2n) female,Haploid (n) male]
• Also known as Diploid-Haploid (Female-Male) System
• Common in Honey bees, ants and termites
• When an egg is fertilized by a sperm, the developed organism will
be diploid (2n)- female
• If egg is not fertilized, organism is haploid(n) - male.
• In honey bees, the females have diploid (2n = 32) chromosomes
and drones or males have haploid (n = 16) chromosomes.
• Females are - queen and workers. The queen produces haploid
eggs. However, haploid male bees produce haploid sperms. Union
of egg with sperm gives rise to diploid larvae which become female.
• Fertilization of eggs produces diploid zygotes - develop into diploid
larvae - give rise to workers which are sterile females or to the
queen, also a diploid larvae fed on royal jelly.
• Unfertilized eggs develop parthenogenically - produce haploid
larvae - fully fertile haploid males called drones Contoso 14
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Chromosomal Sex Determination
XX-XY female-male system
• Most common among animals
• Found in mammals (humans, mice) , Diptera(Drosophila, house fly,
etc.), some fishes, some amphibia, etc.
• Females are homogametic (XX) produce one kind of eggs, each
with one X chromosome.
• Males are heterogametic (XY) produce two kinds of sperms : half
with X chromosome and half with Y chromosome
• Union of an X egg with X sperm leads to development of
female (XX) sex. If an X egg unite with Y sperm, it produces
male (XY) sex
• In mammals (ex. humans, mice and etc) the presence of either a
second X chromosome or a Y chromosome determines whether the
embryo will be female (XX) or male (XY).
• In flies, the Y chromosome plays no role in sex determination, but
the number of X chromosomes appears to determine the sexual
phenotype.
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Chromosomal Sex Determination
• In Drosophila, the Y chromosome is not involved in determining
sex. Rather, it seems to be a collection of genes that are active in
forming sperm in adults, but not in sex determination.
• A fruit fly’s sex is determined predominantly by the number of
X chromosomes in each cell. If there is only one X chromosome
in a diploid cell, the fly is male. If there are two X chromosomes
in a diploid cell, the fly is female.
• Fruit flies are mosaic, where some of the cells are male and
some of the cells are female
• In Drosophila, and in insects in general, one can observe
gynandromorphs—animals in which certain regions of the
body are male and other regions are female, this results in the
when an X chromosome is lost from one embryonic nucleus.
The cells descended from that cell, instead of being XX (female),
are XO (male). The XO cells display male characteristics,
whereas the XX cells display female traits, suggesting that, in
Drosophila, each cell makes its own sexual “decision.”

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Sex Determination and Differentiation in
Humans
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Sex Determination and Differentiation in Humans
• In humans, sex is determined by the
chromosomes and is established at the time an
egg is fertilized by a sperm.
• Each diploid cell has 46 chromosomes (23 pairs),
including 22 pairs of autosomes (non-sex
chromosomes) and one pair of sex chromosomes
or allosomes.
• The sex chromosomes in females are XX, so the
chromosomal type of female cells is designated
as 44:XX. This occurs when a haploid (22:X) egg
is fertilized by a haploid (22:X) sperm. Male
somatic cells are 44:XY, which occurs when a
(22:X) egg is fertilized by a (22:Y) sperm

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Sex Determination and Differentiation in Humans
• The X chromosome is a fairly large chromosome and contains
over 1000 genes, and most of these genes are essential genes
unrelated to sex determination. Some are metabolic enzymes
essential for life.
• The Y chromosome is one of the smallest human chromosomes,
with only 70 or 80 genes. Only a minor portion of this
chromosome is homologous with the X chromosome, allowing
it to pair with the X during meiosis in males.
• The majority of the Y contains DNA sequences unique to this
chromosome. Several genes have been identified on the Y
chromosome and most of these have essential roles in
spermatogenesis.
• The short arm of the Y chromosome contains a sex-
determining region of the Y (SRY) gene that encodes a testis-
determining protein (SRY).
• The SRY gene determines the sex of a human embryo. If SRY is
present (as it is on a normal Y chromosome), the embryo will
form testes and develop as a male. If SRY is absent, the embryo
will develop as a female. Contoso 19
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Sex Determination and Differentiation in Humans
• Mammalian sex determination, like in humans is governed by the gonad-forming genes and by
the hormones elaborated by the gonads.
• Primary sex determination is the determination of the gonads—the egg-forming ovaries or
sperm-forming testes.
• primary sex determination is dictated by whether an organism has an XX or an XY karyotype.
• If at fertilization the egg receives a second X chromosome from the sperm, the resulting
individual is XX, forms ovaries, and is female; if the egg receives a Y chromosome from the
sperm, the individual is XY, forms testes, and is male
• Secondary sex determination is the determination of the male or female phenotype by the
hormones produced by the gonads
• the development of the female and male phenotypes in response to hormones secreted by
the ovaries and testes.
• Secondary sex characteristics like sex-specific body size, vocal cartilage, and musculature are
usually determined by hormones and paracrine factors secreted from the gonads
• Both the male and female gonads diverge from a common precursor, the bipotential gonad
(sometimes called the indifferent gonad)
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Contoso 21
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The Sexually Bipotential Stage
• the period during embryonic development when
the gonads, sex accessory ducts, and external
genitalia of both sexes are identical is called the
sexually undifferentiated or bipotential stage
• The gonads develop as paired bulges of tissue
near the midline at the back of the abdominal
cavity next to the developing kidneys
• These are the genital ridges, which are similar in
both sexes and do not as yet contain germ cells.
These ridges then differentiate into bipotential
gonads, consisting of an outer cortex and an
inner medulla.
• These organs are bipotential because they are
capable of differentiating into either a testis or
an ovary.
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The Sexually Bipotential Stage
• The undifferentiated gonads appear during the
5th week of development (from fertilization)
and lasts until the end of the 7th week of
development
• Also, during the 6th week of development, the
embryo also has undifferentiated sex accessory
ducts, consisting of two pairs of ducts, one pair,
the wolffian ducts and the other the müllerian
ducts
• Also, before the 7th week undifferentiated
external genitalia are present in both sexes, and
these structures are the genital tubercle
(phallus), paired urogenital folds, and a
labioscrotal swelling
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GONADAL SEX DIFFERENTIATION
• The cells that will become gametes (eggs or
sperm) are primordial germ cells; they are not
initially present in the undifferentiated gonadal
tissue but instead migrate in from a remote
location.
• By the 4th or 5th week of development,
primordial germ cells begin to arrive at the
bipotential gonads and to establish residence in
these organs
• In humans, there are about 100 primordial
germ cells that start the journey, but by the
time they arrive at the gonads, they number
about 1700 because they proliferate during
their migration.
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Ovarian Development: Primary sex determination
• If a Y chromosome is not present, the cortex of the gonad
forms ingrowths or primitive sex cords.
• Those that develop near the periphery of the developing ovary
are called cortical cords, whereas those found in the interior
are medullary cords. The primordial germs cells concentrates
into the cortical cords and the medullary cord disintegrates.
• Differentiation of ovaries occurs a few weeks later than the
differentiation of testes
• The enlarging cortex becomes an ovary, which contains
oogonia, cells derived from the primordial germ cells and
these oogonia then undergo mitotic proliferation so that there
are about 600,000 and 7 million by the 5th month.
• Most of these oogonia degenerate, but some survive, enter
meiosis, and become oocytes, which are surrounded by a
single layer of granulosa cells or primordial follicles
• From the 7th to the 9th month of fetal life, the ovaries descend
from an abdominal position to reside in the pelvic cavity
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Testicular Development: Primary sex determination
• If the primordial germ cells and gonadal cells have an XY
complement of sex chromosomes, testes develop from the
bipotential gonads and occurs at about 43–50 days of
development.
• If a Y chromosome is present, the primordial germ cells
concentrate in the medulla of the gonad and the cortex regresses.
Sex cords develop within the medulla and these cords contain
spermatogonia derived from the primordial germ cells, as well as
Sertoli cells. Thus, the medullary cords become the seminiferous
tubules of the testes
• The testosterone secreting Leydig cells begin to appear between
the cords on about day 60 of development and these cells can be
stimulated to produce secrete testosterone by activity of the fetal
anterior pituitary gland, which also starts secreting during this
time
• During the third to the ninth month of fetal life, the testes descend
from an abdominal position into the scrotum; transabdominal
migration occurs late in the first trimester, and the testes move
through the inguinal canal and into the scrotum during the third
trimester and this is stimulated by testosterone Contoso 26
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Genetic Regulation of Gonadal Differentiation
• The SRY (sex-determining region of the Y ) gene gene is expressed in mammalian
genital ridges just before testicular differentiation in males, but not in females. The
expression of this gene induces the genital ridge epithelium to differentiate into
Sertoli cells.
• One important gene target of SRY is SOX-9, which also encodes a transcription factor.
Expression of SOX-9 is necessary for Sertoli cell development
• Genes are also actively involved in formation of the ovary and that ovarian
differentiation is not simply a “default” state that occurs when the Y chromosome is
absent.
• Before sexual differentiation, the bipotential gonad contains populations of cells that
are capable of developing in either a male or female direction.
• The initial step in differentiation of all of these cells depends on whether SRY is
expressed in the support cell precursors; SRY causes them to differentiate into Sertoli
cells, and subsequently the other cell types adopt a male phenotype. In the absence
of SRY, the somatic and germ cells become ovarian cells Contoso 27
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DIFFERENTIATION OF SEX ACCESSORY DUCTS AND GLANDS
• Embryos of both sexes possess both wolffian and
müllerian duct systems until the 7th week of development
• The wolffian duct requires active stimulation by
testosterone to avoid degeneration.
• If the testes develops, the Leydig cells starts secreting
testosterone which causes the wolffian duct system to
develop into the epididymis, vas deferens, seminal
vesicles, and ejaculatory duct.
• The müllerian ducts on the other hand, will be
maintained unless they receive a signal causing them to
regress. That is why in developing males, sertoli cells in
the embryonic testes secrete a glycoprotein that causes
active regression of the müllerian ducts by apoptosis, or
programmed cell death. This substance is called anti-
müllerian hormone (AMH) or the müllerian-inhibiting
substance (MIS).
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DIFFERENTIATION OF SEX ACCESSORY DUCTS AND GLANDS
• If ovaries develop, no testosterone is
secreted and thus the wolffian ducts
regress.
• Also, because no presence of AMH
(anti-müllerian hormone) and the
embryonic ovaries are screting
estrogens the müllerian ducts are
allowed to develop into a pair of
oviducts as well as into the uterus,
cervix, and the upper one-third of the
vagina. The lower two-thirds of the
vagina form from the urogenital sinus,
which also gives rise to the urinary
bladder and urethra
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DIFFERENTIATION OF EXTERNAL GENITALIA
• If testes are present in an embryo, the male external
genitalia develop during the 8th week of development.
• That includes the genital tubercle which differentiates
into most of the penis, the urogenital folds form the
ventral aspect of the penis shaft, and the labioscrotal
swelling becomes the scrotum.
• These structures develop because of the presence of
androgens namely the testosterone and
dihydrotestosterone (DHT)
• If no testes develops to secrete testosterone (i.e. ovaries
are present), the genital tubercle differentiates into the
clitoris, the urogenital folds into the labia minora, and
the labioscrotal swells into the mons pubis and labia
majora.
• Therefore, androgens are required to masculinize the
external genitalia; in the absence of androgens, female
structures develop. Contoso 30
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• Male and female reproductive structures
develop from embryonic tissues that are initially
sexually bipotential.
• Presence or absence of the Y chromosome
determines whether these structures will
develop in either a male or a female direction.
• In XY individuals or males, expression of the SRY
gene on the Y chromosome causes the
indifferent gonad to develop into a testis. The
developing testis then releases hormones that
masculinize the internal ducts, glands, and
external genitalia.
• While in the absence of SRY, the gonad in XX
individuals or females develops into an ovary. In
this case, the reproductive ducts and external
genitalia develop along a female pathway
because they are not exposed to testicular
secretions Contoso 31
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THANK YOU!!

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