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BPK 307 > Development And Differentiation > Flashcards

Development And Differentiation Flashcards

1
Q

What is SRY

A

Sex determining region Y
Region of Y chromosome that produces testis determining factor- promote development of testes

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2
Q

How many chromosomes

A

46 split 23/23

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3
Q

What gamete determines sex

A

Sperm

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4
Q

Define genetic, gonadal, phenotypic sex

A

Genetic sex- sex chromosomes
Gonadal sex- gonads- primary sex organs (testes or ovaries)
Phenotypic sex- internal/external genitalia

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5
Q

What is Turner’s Syndrome, name physical features

A

XO: Missing a sex chromosome (45) (1 in 2500 female births)
Physical features:
Primary amenorrhea (no menstrual cycle)
Infertility common
Typical external genitalia (small, immature)
Requires hormone therapy for breast development, menstruation and treatment of infertility
Inadequate estrogen production (weak bones, short stature, scoliosis)
Neck webbing (pterygium colli)
Increased risk of cardiac and renal defects (estrogen cardio protective)

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6
Q

What is Klinefelter syndrome, describe physical characteristics

A

XXY: extra X chromosome (47) (1 in 500 male births)
Most common sex abnormality fewer than 26% diagnosed
Physical characteristics:
No obvious facial dysmorphology
Tall stature
Small testes (usually infertile 95-99%)
Broad lips
Sparse body hair
Androgen, low serum T levels
Elevated gonadotropins
Azoospermia (low FSH and LH)- lack of sperm in semen
Gynecomastia (inc breast tissue) in late puberty
Psychiatric disorders more common

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7
Q

What is triple X Syndrome, describe physical characteristics

A

XXX (47): extra X (1 in 1000 female births/5-10 girls born in US daily)
Most undiagnosed- common abnormality
Physical characteristics:
May be taller
May result in kidney problems or seizures 10%
May cause developmental delays (speech, language, motor skills)
No unusual physical features
Psychological problems- anxiety, depression
Normal sexual development
Fertility normal (maybe ovarian problems)

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8
Q

What sex does early fetal development produce? What period is considered early development?

A

Undifferentiated development
Less than 9 weeks

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9
Q

What does gonadal development determine? How does it do this?

A

Determines phenotype
Based on endocrine and paracrine secretions produced by the gonad

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10
Q

What are germ cells

A

Undifferentiated reproductive cells

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11
Q

Explain male gonadal development

A

Germ cells migrate to cortex
Differentiate to spermatogonia
Sertoli cells produce AMH (anti-mullerian hormone)
Leydig cells produce testosterone (5alpha reductase converts to DHT for further genital development)

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12
Q

What do Sertoli cells produce

A

Anti mullerian hormone

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13
Q

What do Leydig cells produce

A

Testosterone

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14
Q

Explain female gonadal development

A

Medulla regresses and cortex thickens
Germ cells differentiate to primary oocytes

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15
Q

Components of male internal genitalia, what cells produce them

A

Wollfian development (Vas deferens)
Seminal vesicles
Ejaculatory ducts
- by Leydig cells

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16
Q

Female internal genitalia

A

Mullerian ducts- including Fallopian tubes, uterus, upper third vagina

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17
Q

What degenerates the Müllerian ducts

A

AMH

18
Q

What is the other term for wollfian ducts

A

Vas deferens

19
Q

What internal ducts is a fetus born with

A

Müllerian ducts and wollfian ducts

20
Q

What features does an individuals who has an androgen receptor deficiency

A

Express XY
Male gonads (testes)
Wolffian degenerates
Mullerian degenerates
Female external genitalia

21
Q

When do the testes descend

A

Final month of fetal development

22
Q

What was Alfred Jost’s research

A

Castrate rabbits in utero
Discovered that the absence of SRY gene determined gender
Testosterone develop wolffian ducts but doesn’t degenerate mullerian

23
Q

What causes wolffian development

A

Testosterone

24
Q

What degenerates Müllerian ducts

A

AMH

25
Q

What is required for male inner genitalia development

A

TDF (SRY)

26
Q

What hormone determines external genitalia

A

DHT allows male
Female is default

27
Q

Outcome of Male early castrate

A

No testes
Internal: No T/AMH- has Müllerian ducts (wolffian ducts can’t develop without T)
External: No DHT- default female

28
Q

Outcome of Female early castrate

A

No ovaries
Internal: No T/AMH- Müllerian ducts
External: default female (no DHT)

29
Q

Outcome of Male right unilateral early castrate

A

No left testes, has right
L internal: Yes T/AMH- wolffian duct
R internal: Müllerian duct (no T/DHT, female default)
External: Yes T/DHT- male

30
Q

Outcome of male early castrate and testosterone

A

Androgens (T)- wolffian ducts
No AMH- Müllerian ducts
External: male/intersex

31
Q

Outcome of female given testosterone

A

Androgens (T)- wolffian ducts
No AMH- Müllerian ducts
External: ambiguous/intersex

32
Q

Outcome of Female left unilateral castrate

A

No left ovary, yes right ovary
Internal: No T/AMH- Müllerian ducts (wolffian degenerate)
External: female fully formed

33
Q

What does 5 alpha-reductase deficiency cause

A

Lack of DHT (can’t convert T)
Intersex often raised female

34
Q

What is the Cloaca

A

Tubular structure
Undifferentiated eventually becomes end of GI, external genitalia, pelvic region (urethra, prostatic urethra), phallic region (vagina, penile urethra)

35
Q

What different m/f structure is made from the same undifferentiated tissue

A

Glans penis and clitorus

36
Q

Name of castrated man- provide height change and when castrated

A

Alessandro Moreschi
Castrated after development but before puberty
Grew taller
Castrated provided higher pitch voice

37
Q

Births of chromosomes/genitals not fitting definition f/m

A

1/300 births

38
Q

What is the Prader Scale

A

Scale of virilization of the external genitalia- ambiguous genitalia
No virilization - female (fully developed)
Stage 5 - male

39
Q

Sexual differentiation of brain (sexual dimorphic nuclei)

A

INAH3 - larger in males
Pre-optic area of hypothalamus
Development influenced by gonadal steroids

40
Q

Sexual dimorphism in humans

A

Secondary sexual characteristics
Cognitive differences/ neurological differences
Behavioural differences
CONTROVERSIAL

BPK 307 (13 decks)

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