Intersex

Question 1

A term is used when someone is born with sex characteristics that don’t fit the usual definition of girl or boy.

Answer 1

Intersex

Question 2

Intersex was previously called as having a

Answer 2

disorder of sex development

Question 3

is a genetic disease that causes biological males to be born with an extra copy of the X chromosome in their cells

Answer 3

XXY, or Klinefelter syndrome

Question 4

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.

Answer 4

XXY, or Klinefelter syndrome

Question 5

• May result in infertility
• delay speech and language development in male children

Answer 5

XXY, or Klinefelter syndrome

Question 6

Symptoms of XXY, or Klinefelter syndrome in males and teens

Answer 6

• mild dyslexia
• 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

Question 7

Symptoms of XXY, or Klinefelter syndrome in adults

Answer 7

• major problems with
  learning and speech
• poor coordination
• unique facial features
• bone problems

Question 8

• 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.

Answer 8

XYY syndrome or Jacob’s syndrome

Question 9

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

Answer 9

XYY syndrome or Jacob’s syndrome

Question 10

symptoms of XYY syndrome in babies

Answer 10

• hypotonia (weak muscle tone)
• delayed motor skill development, such as with walking or crawling
• delayed or difficult speech

Question 11

symptoms of XYY syndrome in a young child or teenager

Answer 11

• 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

Question 12

when chromosomes differ by cell (e.g., some cells are XXY and some are XY)

Answer 12

Mosaicism

Question 13

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.

Answer 13

Mosaicism

Question 14

an organism or tissue where the cells have distinct genomes and all of the cells originated from the same fertilized zygote

Answer 14

Mosaicism

Question 15

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

Answer 15

Mosaicism

Question 16

This is a disorder that causes red, scaly skin all over the body.

Answer 16

Ichthyosis with confetti

Question 17

This syndrome can cause low amounts of testosterone. This can lead to problems with sexual development and other issues.

Answer 17

Klinefelter syndrome

Question 18

This disorder causes a red birthmark called a port-wine stain.

Answer 18

Klippel-Trenaunay syndrome

Question 19

It also causes excess growth of soft tissues and bones, as well as abnormal veins

Answer 19

Klippel-Trenaunay syndrome

Question 20

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.

Answer 20

Mosaic Down syndrome

Question 21

This is a developmental disorder that causes weak muscles, intellectual disability, thin hair, patches of abnormal skin color, and other birth defects

Answer 21

Pallister-Killian mosaic syndrome

Question 22

this condition causes seizures, intellectual disability, and delayed speech and motor development

Answer 22

Ring chromosome 14 syndrome

Question 23

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.

Answer 23

SOX2 anophthalmia syndrome

Question 24

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.

Answer 24

Triple X syndrome

Question 25

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.

Answer 25

Trisomy 18

Question 26

This is a condition in women that causes short height, ovarian problems, lack of fertility, and heart defects

Answer 26

Turner syndrome

Question 27

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.

Answer 27

Mixed gonadal dysgenesis (MGD)

Question 28

This results in the child being born with an undescended testicle on one side, and an underdeveloped sex organ on the other side

Answer 28

Mixed gonadal dysgenesis (MGD)

Question 29

Children with this condition may require hormone treatment and need regular monitoring of their growth and development

Answer 29

Mixed gonadal dysgenesis (MGD)

Question 30

are genetically male (meaning they have XY chromosomes), but their bodies are resistant to sex hormones for male development

Answer 30

Androgen insensitivity syndrome

Question 31

This causes the development of genitals that are either completely or partially female

Answer 31

Androgen insensitivity syndrome

Question 32

A child with ________________ is genetically male but looks like a girl.

Answer 32

complete Androgen insensitivity syndrome

Question 33

Babies with _______________ may have both male and female -looking genitalia, such as a large clitoris or testicles that have not descended into the scrotum.

Answer 33

partial AIS

Question 34

Boys born with a very small penis are said to have a

Answer 34

Micropenis

Question 35

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 _____________ long when gently stretched

Answer 35

0.75 inches

Question 36

produce extra male sex hormones called androgens and have trouble producing other hormones.

Answer 36

Congenital adrenal hyperplasia

Question 37

Girls (babies with female chromosomes) with _________________________ may have an enlarged clitoris or genitalia that looks male

Answer 37

Congenital adrenal hyperplasia

Question 38

What does intersex look like?

Answer 38

*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