a.The Anatomy
of Male and
Female
Intersex
b.Biological
characteristics,
commonalities
and
differences of
Male and
female
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INTERSEX
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A term is used when
someone is born with
sex characteristics that
don't fit the usual
definition of girl or boy.
•Previously called as
having a disorder of
sex development
(DSD)
https://intersexroadshow.blogspot.com/2011/04/in
tersex-genitalia-illustrated-and.html
• Read the blog below
•"Hermaphrodite“
How common is being
intersex?
✓An estimated 1 in
100 Americans is
intersex. Around
2% of people
worldwide have
intersex traits.
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What causes a
baby to have
intersex traits?
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•XXY, orKlinefelter syndrome
Klinefelter syndrome is a genetic
disease that causes biological
males to be born with an extra copy
of the X chromosome in their cells.
Males with this condition may not
have any symptoms or may have a
variety of symptoms, including
smaller-than-normal testicles that
produce less testosterone.
•May result in infertility
•delay speech and
language development in
male children
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•milddyslexia
•issues with paying attention
•lowered energy levels
•difficulty socializing
•delayed puberty, which can include:
•a lack of facial or body hair
•a higher-pitched voice
•more fat deposits around the hips and buttocks, creating a rounder lower half of
the body
•enlarged breasts (gynecomastia)
•taller stature than the rest of the family (including long arms and legs)
•difficulty increasing or producing muscle tone
•smaller testicles
•smaller penis
Symptoms in young males and teens
Symptoms in adults
•major problems with
learning and speech
•poor coordination
•unique facial features
•bone problems
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•XYY syndrome or Jacob’s
syndrome
➢a genetic condition that occurs when a male has
an extra copy of the Y chromosome in each of
their cells (XYY). Sometimes, this mutation is
only present in some cells. Males with XYY
syndrome have 47 chromosomes because of the
extra Y chromosome.
✓males with XYY syndrome don’t
usually have any distinguishing
physical features, and they have
normal sexual development.
➢result of a random mix-up, or mutation,
during the creation of a male’s genetic
code. Most cases of XYY syndrome are
not inherited
symptoms of XYY syndrome
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BABY
•hypotonia (weak muscle tone)
•delayed motor skill
development, such as with
walking or crawling
•delayed or difficult speech
YOUNG CHILD OR TEENAGER
•an autism diagnosis
•attention difficulties
•delayed motor skill development, such as with writing
•delayed or difficult speech
•emotional or behavioral issues
•hand trembling or involuntary muscle movements
•hypotonia (weak muscle tone)
•learning disabilities
•taller-than-average height
➢In adults, infertility is a
possible symptom of XYY
syndrome.
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•Mosaicism, when chromosomes differ
by cell (e.g., some cells are XXY and
some are XY)
➢occurs when a person has two or more genetically
different sets of cells in his or her body. If those
abnormal cells begin to outnumber the normal cells, it
can lead to disease that can be traced from the cellular
level to affected tissue, like skin, the brain, or other
organs.
➢The condition can stem from
a genetic error that occurs
after fertilization of an egg,
during very early embryo
development, or it could occur
later in development
➢an organism or tissue where the cells have distinct genomes
and all of the cells originated from the same fertilized zygote
Chromosome
mosaicism
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How does mosaicism occur?
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•Mosaicism likely occurs on some small, unnoticeable level in most humans. It happens after the
sperm fertilizes an egg, forming a zygote, which grows through a process of cells dividing over and
over and over. When cells divide and multiply, they make an exact copy of their DNA and then
split the copies between each of the resulting two cells. If there is a mistake anywhere in this
process—for example, a DNA copy that contains a mistake or DNA that is split unevenly, the
resulting cells would be different. In some cases, the abnormal cell may simply die; but, if it
survives, the result is mosaicism. If this occurs early in development, as many as 50% of a person’s
cells could be abnormal, which would be a high level of mosaicism. If the mistake happens later,
however, a smaller percentage of cells would be abnormal, resulting in a lower level of mosaicism.
The impact of mosaicism is typically determined by the severity of the mistake in the DNA, as well
as the degree of mosaicism.
disorders are caused by mosaicism
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•Ichthyosis with confetti.This is a disorder that causes red, scaly skin all over
the body.
•Klinefelter syndrome.This syndrome can cause low amounts of
testosterone. This can lead to problems with sexual development and other
issues.
•Klippel-Trenaunay syndrome.This disorder causes a red birthmark called a
port-wine stain. It also causes excess growth of soft tissues and bones, as well
as abnormal veins.
•Mosaic Down syndrome.Down syndrome is a condition that causes
intellectual disabilities and delays, weak muscles, and flat facial features. It can
also cause a heart defect, digestive problems, thyroid problems, and other
health issues.
•Pallister-Killian mosaic syndrome.This is a developmental disorder that
causes weak muscles, intellectual disability, thin hair, patches of abnormal skin
color, and other birth defects.
https://www.yalemedicine.org/conditions/mosaicism
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•Ring chromosome 14 syndrome.This condition causes seizures,
intellectual disability, and delayed speech and motor development.
•SOX2 anophthalmia syndrome.This is a rare disorder that can
cause a child to be born without eyes. It can also cause seizures,
brain problems, and delayed growth.
•Triple X syndrome.This condition is caused by an extra X
chromosome in each of a woman’s cells. It can cause learning
disabilities, delayed language skills, and problems with motor skills
and muscles.
•Trisomy 18.This condition can cause slow growth in the womb,
heart defects, a small head, and other defects. Only a small number
of children with this condition live past their first year.
•Turner syndrome.This is a condition in women that causes short
height, ovarian problems, lack of fertility, and heart defects.
What are some examples of intersex conditions?
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Mixed gonadal dysgenesis
(MGD):This condition is caused by a
chromosomal difference (mosaic), in
which some chromosomes are XY
(male), and some are XO – meaning
they are missing a second sex
chromosome. This results in the child
being born with an undescended
testicle on one side, and an
underdeveloped sex organ on the
other side. Children with this condition
may require hormone treatment and
need regular monitoring of their
growth and development.
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Androgen insensitivity syndrome
(AIS):People with AIS are genetically
male (meaning they have XY
chromosomes), but their bodies are
resistant to sex hormones for male
development. This causes the
development of genitals that are
either completely or partially female. A
child with complete AIS is genetically
male but looks like a girl. (This
condition is usually not discovered
until later). Babies with partial AIS may
have both male and female-looking
genitalia, such as a large clitoris or
testicles that have not descended into
the scrotum.
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Micropenis:Boys born with a very
small penis are said to have a
micropenis. There's no universally
agreed upon criteria of what
constitutes a micropenis, but in a
newborn boy it usually means the
penis measures less than 0.75 inches
long when gently stretched. A
micropenis can occur alone or in
combination with hormonal or other
disorders.
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Congenital adrenal hyperplasia
(CAH):People with CAH produce
extra male sex hormones called
androgens and have trouble
producing other hormones. Girls
(babies with female
chromosomes) with CAH may
have an enlarged clitoris or
genitalia that looks male. CAH
can be life-threatening and
require lifelong treatment, such
as hormone replacement.
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What does intersex look
like?
•a clitoris that’s larger than expected
•a penis that’s smaller than expected
•no vaginal opening
•a penis without a urethra opening at the tip (the opening
might instead be on the underside)
•labia that are closed or otherwise resemble a scrotum
•a scrotum that is empty and resembles labia
Reference:
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https://my.clevelandclinic.org/health/articles/16324-
intersex
https://intersexroadshow.blogspot.com/2011/04/intersex-
genitalia-illustrated-and.html
https://biologydictionary.net/hermaphrodite/
https://www.babycenter.com/baby/newborn-baby/when-
your-baby-is-intersex_20000898#what-does-intersex-look-
like
https://www.genome.gov/genetics-glossary/Mosaicism