Pgs 394 Exam 1

Front 1

Male Chromosomes

Back 1

Xy (46,Xy)

Front 2

Female Chromosomes

Back 2

XX (46,XX)

Front 3

Chromosome Make-Up

Back 3

44 Autosomes
2 Sex Chromosomes

Front 4

Effect of extra X chromosome

Back 4

Increase Chance of mental retardation

Front 5

Autosomes

Back 5

Twenty-two of the twenty-three pairs. They are the same in males and females. Do not significantly influence sex differentiation

Front 6

Aneuploidy

Back 6

Gamete that has too few or too many chromosomes

Front 7

Shettle's Theory

Back 7

Sex Selection
- Timing
- Intercourse position
- 3 or more days before ovulation (girl)
- 2 days before or one day after (boy)

Front 8

Meiosis

Back 8

Creates Gametes (Sex Cells, Sperm and Eggs)

Front 9

Mitosis

Back 9

Body cells replicate and multiply, creates daughter cells

Front 10

Translocation

Back 10

When chromosomes "swap spit" and leave pieces behind on the other chromosome

Front 11

Non-disjunction

Back 11

Paired chromosomes do not separate either during meiosis 1 or meiosis 2

Front 12

Sex-linked Recessive

Back 12

Diseases on the X chromosome that the y chromosome cannot make better

Front 13

Chimera/Mosaic

Back 13

Body has some tissue with one sex chromosome and some with the other.
- occurs when non-disjunction occurs during mitosis

Front 14

Phenotype

Back 14

Physical expression of your genes

Front 15

Karyotype

Back 15

- Examination of your genes
- Number and type of genes you have

Front 16

Turner's Syndrome Chromosome Configuration

Back 16

- 45,X (45,X)
- 45,X/46XX

Front 17

Turner's Syndrome Symptoms

Back 17

- Webbed Neck
- Cardiac Problems
- Ear Infections
- Short Stature
- Problems with visuospatal tasks, memory and attention

Front 18

Turner's Syndrome Management

Back 18

- May be diagnosed in childhood when growth slows. Can begin growth hormone treatment at 2-5 yrs in this case.
- May not be diagnosed until puberty when menstruation does not occur. Then, provide female hormones. Regular menstruation. Continued indefinitely to maintain physical & psychological femininity.

Front 19

Klinefelter's Syndrome Chromosome Configuration

Back 19

- 47,XXy

Front 20

Klinefelter's Syndrome Symptoms at Birth

Back 20

- Lower birth weight
- Shorter
- Smaller hear circumference
- 3 xs more likely to have cryptorchidism
- Testes normal (but, do not grow)
- Minority born with small penises

Front 21

Klinefelter's Syndrome Symptoms during childhood

Back 21

- Growth spurt 5-8, disproportionate leg length
- Reading & language problems, delayed speech development
- Increased risk for developmental delays, ADHD
- Psychosocial problems, impaired interaction with peers, shy, passive, quiet, immature, dependent

Front 22

Klinefelter's Syndrome Symptoms during puberty

Back 22

- Gynecomastic 30-90% (increased risk of breast CA)
- Delayed psychosexual development

Front 23

Klinefelter's Sydrome Symptoms during adulthood

Back 23

- Diminished body & facial hair
- Female pubic hair pattern
- Small phallus
- Small testes
- Poor muscular development
- Feminine fat distribution, hips & abdomen
- Taller than average
- Lower libido

Front 24

Xyy Syndrome Symptoms

Back 24

- Taller than average, increased risk of learning disabilities, delayed speech & language skills. Impulsivity.

Front 25

Cryptorchidism

Back 25

Condition where testes fail to descend from the abdominal cavity to the scrotal sac

Front 26

Gender Identity

Back 26

How one psychologically perceives oneself as either male or female

Front 27

Sex assignment

Back 27

What the baby is sent home to be raised as

Front 28

Wolffian Ducts

Back 28

In presence of testosterone, become male internal reproductive organs: vas deferens, seminal vesicles, epididymis, ejaculatory ducts

Front 29

Mullerian Ducts

Back 29

become female internal reproductive glands: Fallopian tubes, uterus & upper vagina.

Front 30

M.I.S. - Mullerian Inhibiting Substance

Back 30

- System to shrink and disappear in males

Front 31

Sex/Gender Factors

Back 31

- Chromosomes
- Gonads
- Hormones
- Internal Reproductive Organs
- External Genitals
- Sex of Assignment
- Gender Identity
- Gender Role

Front 32

Hypospadias

Back 32

Distal, towards the end of penis
typically there is a downward curve

Front 33

Chordee

Back 33

Downward curve of the penis

Front 34

SRY Gene

Back 34

Tells the gonads to become testes

Front 35

True Hermaphroditism

Back 35

- AKA Gonadal Intersexuality
- Both testicular and ovarian tissue in same body
- 20% bilateral ovotestes

Front 36

AIS

Back 36

Androgen Insensitivity Sydrome

Front 37

Cause of AIS

Back 37

- X-linked recessive. Caused by mutation in gene for the androgen receptor.
- Literally hundreds of such mutations exist.
- Can diagnose prenatally.
- Can also occur spontaneously. In 1/3 of females

Front 38

AIS Prevalence

Back 38

At Birth
- ambiguous genitalia
- testes trying to settle into labia in 80-90% of girls, from birth to adolescence

Adolescence/puberty
- no menses
- testes in inquinal position creates pain during sexual intercourse & sports

Front 39

Complete Androgen Insensitivity Syndrome (CAIS) Symptoms

Back 39

At birth:
- phenotype is normal or near-normal female. Vagina only 2.5-3.0 cm, 2/3’s normal.


At puberty:
- develop breasts & female fat distribution.
- underdeveloped or pale nipples.
- voice remains feminine.
- pubic & axillary hair scant or absent.
- no menses.
- tend to be taller than average women as height
- gene is on Y chromosome.
- will need hormone management.

Front 40

CAIS Diagnosis

Back 40

- not usually made at birth as look normal. May explore if prenatal testing indicated Xy chromosomes

Front 41

CAIS Management

Back 41

- Remove testes after puberty
- may need vaginoplasty, but dilation & i.c. are usually sufficient to extend vagina

Front 42

Partial Androgen Insensitivity Syndrome (PAIS) Sex of Assignment

Back 42

Tough call. No criteria can be used to educate the decision re sex of assignment. Unlike CAIS, 9.1% of this sample will change genders in later life.

Front 43

PAIS Symptoms

Back 43

- some feminization & virilization.
- Some start off responsive to testosterone & then lose that.
- various degrees of gynecomastia.
- decreased ejaculate volume.
- impaired spermatogenesis.
- high-pitched voice.
- subnormal skeletal muscularity.
- erectile disorder.
- facial, axillary, body or pubic hair in female distribution

Front 44

Mild Androgen Insensitivity Sydrome (MAIS) Symptoms

Back 44

At birth:
- phenotype is normal or near-normal male.
- penis & scrotum may be small.
- may be coronal hypospadias.
- testes usually undescended
Puberty
- Small penis.
- Sometimes infertility is only sign of MAIS

Front 45

CAH

Back 45

Congenital Adrenal Hyperplasia

Front 46

CAH Gender Indentity

Back 46

Usually female. A few cases where they changed to male.

Front 47

CAH Cause

Back 47

due to enzyme deficiency
- Autosomal recessive disorder (#6)

Front 48

CAH Diagnosis

Back 48

Most likely prenatal

Front 49

Three types of CAH

Back 49

1. Salt-Wasting (SW)
2. Non-Salt Wasting (Simple Virilizing) (SV)
3. Non-Classical (NC)

Front 50

Salt-Wasting

Back 50

- Near total enzyme deficiency. 75% of CAH are these.
- Both cortisol & aldosterone is fully blocked or markedly inhibited

Front 51

Non-Salt Wasting/Simple Virilizing

Back 51

- partial enzyme deficiency.
- synthesis of cortisol more markedly affected than synthesis of aldosterone

Front 52

Non-Classical

Back 52

- Mild enzyme deficiency
- aka late onset

Front 53

Prader Scale

Back 53

Measure of Masculinization

Front 54

5-ARD

Back 54

5 - Alpha Reductase Deficiency Sydrome

Front 55

Cause of 5-ARD

Back 55

- Autosomal Recessive
- results in inability to convert testosterone to dihydrotestosterone (DHT).
- DHT is responsible for completion of formation of male external genitalia & prostate.

Front 56

Prevalence of 5-ARD

Back 56

- Unknown
- In GAZA strip

Front 57

5-ARD at puberty

Back 57

- Infertile
- Virilization occurs instead of femininization

Front 58

5-ARD when XX's are homozygous

Back 58

- No problem because there is no need to DHT in women

Front 59

Testicular Dysgenesis Disorder

Back 59

Caused by abnormal testicular development in utero
- hypospadias
- Cryptorchidism
- Testicular cancer
- Reduced sperm quality
- First observed in lab animals - called “phthalate syndrome

Front 60

Bisphenol A (BPA)

Back 60

Used as building block for hard plastic goods like bottles (hikers, babies) & as resin to line food & drink cans. Dental sealants, dyes. (#7 recycling).
Been used for 50 yrs.
Over 50% of canned goods on US market
shelves are lined with BPA. Can’t tell by visual
inspection.

Front 61

Atrazine

Back 61

Agricultural pesticide.
80 million lbs spread in US each yr.
2006: men from Columbia MO had significant reductions in sperm concentration, motility & total motile sperm when compared to men from Minneapolis, NY & LA

Front 62

Sex Ratios in Canada

Back 62

2 girls for every boy born. Percentage of boys now approaches 30%.

Front 63

Methylation

Back 63

process where genes are turned on or off

Front 64

Both Urethra and Uterus

Back 64

Urogenital

Front 65

Androphilia

Back 65

Attracted to males

Front 66

Gynephilia

Back 66

Attracted to females

Front 67

Ambiphilia

Back 67

Attracted to both males and females

Front 68

Gender Dysphoria

Back 68

Feeling trapped in a body of the wrong sex

Front 69

Clitoromegaly

Back 69

an abnormal enlargement of the clitoris

Front 70

Orchipexy

Back 70

Surgery to move an undescended testicle into the scrotum

Front 71

Gynecomastia

Back 71

abnormal development of large mammary glands in males resulting in breast development

Front 72

Anogenital Distance

Back 72

Distance between the anus and the base of the penis or vagina

Front 73

Labioscrotal Swelling

Back 73

paired primordial elevations flanking the genital tubercle and the urogenital orifice of the embryo; they develop into the labioscrotal folds, which become the labia majora in the female and unite to form the scrotum of the male.