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Repro/GU Matt > SM181 Sex Development > Flashcards

SM181 Sex Development Flashcards

1
Q

What is chromosomal sex?

A

The chromosome complement at the time of fertilization

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2
Q

What is gonadal sex?

A

Formation of gonadal tissue and transformation into testis or ovary

Begins very early in gestation (around week 6)

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3
Q

What is phenotypic sex?

A

Internal and external genitalia and sexual characteristics

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4
Q

Testis-determining genes

A

SRY (sex-determining region on the Y chromosome)

SOX9, SF1, DAX1, and AMH (anti-mullerian hormone) are also important

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5
Q

Ovary-determining genes

A

RSPO-1 WNT4

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6
Q

Until what point are male and female genital structures identical?

A

6 weeks

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7
Q

Where do germ cells come from primordially?

A

Migrate from the hindgut to the genital ridge

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8
Q

What are Sertoli cells, what do they secrete?

A

Sustentacular cells associated with the seminiferous tubule that are nvolved in male gonadal differentiation

Secretes AMH (anti-mullerian hormone) which causes regression of the Mullerian (paramesonephric) ducts

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9
Q

What is a Leydig cell? What do they secrete? What stimulates their development?

A

Endocrine cell adjacent to the seminiferous tubule

Testosterone

beta-hCG

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10
Q

What do the Wolffian ducts form?

A

Epididymis, vas deferens, seminal vesicle

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11
Q

What stimulates Wolffian ducts?

A

Testosterone from Leydig cells

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12
Q

What do the Mullerian ducts form?

A

Fallopian tubes, uterus, upper vagina

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13
Q

SF1

A

Affects all three levels of the HPG axis

Regulates ACTH receptor, LH, AMH

Homozygous mutation: gonadal dysgenesis and adrenal insufficiency

Heterozygous mutation: gonadal dysgenesis without adrenal insufficiency

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14
Q

SRY

A

Sex-determining Region of the Y chromosome

Induces Sertoli cell differentiation, migration of mesonephric cells into the genital ridge, proliferation of cells in the genital ridge, and male-specific vasculature development

Sex reversal in 46XX males with SRY and 46XY females without SRY

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15
Q

SOX9

A

Upregulated after SRY, expressed in Sertoli cells, regulates AMH

Induces chondrogenesis

Haploinsufficiency leads to XY gonadal dysgenesis (sex reversal) and campomelic dysplasia (skeleton development defects)

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16
Q

DAX1

A

Dose-sensitive sex reversal

Mutation gives you Adrenal Hypoplasia Congenita, hypogonadotropic hypogonadism, and impaired spermatogenesis

Expressed in hypothalamus, pituitary, testis, adrenal cortex, and ovary

Duplication gives you 46XY sex reversal (dose-dependent)

17
Q

WNT4

A

Females: Mullerian duct formation, maintenance of oocytes, suppress Leydig cells

Males: proper testis vasculature, organization of sex cords

Heterozygous human WNT4 mutations seen in 46XX females with Mayer-Rokitansky-Kuster-Hauser syndrome

18
Q

Mayer-Rokitansky-Kuster-Hauser syndrome

A

Due to WNT4 mutation

Absent Mullerian structures, mild virilization, high androgen concentrations

19
Q

AMH (antimullerian hormone)

A

Produced by Sertoli cells

Regulated by SF1 and SOX9

Causes regression of Mullerian structures

Mutation: 46XY individuals with persistent Mullerian duct syndrome

20
Q

What side does AMH cause regression on (contralateral or ipsilateral?)

A

Ipsilateral

21
Q

5 alpha-Reductase 2

A

Converts testosterone to dihydrotestosterone (DHT)

Required for masculinization of external genitalia

22
Q

What does the genital tubercle form in men? Women?

A

Men: glans penis

Women: clitoris

23
Q

What does the urogenital sinus form in men? Women?

A

Men: prostate and prostatic urethra

Women: lower vagina and urethra

24
Q

What do the urethral folds form in men? Women?

A

Men: shaft of penis

Women: labia minora

25
Q

What do the labioscrotal swellings form in men? Women/

A

Men: scrotum

Women: labia majora

26
Q

Can the uterus develop if germ cell migration is abnormal? Can the testis?

A

Uterus: no
Testis: yes

27
Q

Klinefelter syndrome genotype

A

47XXY

28
Q

Turner syndrome genotype

A

45XO

29
Q

Mixed gonadal dysgenesis genotype

A

46XY/45XO (mosaicism)

30
Q

Klinefelter syndrome findings

A

Male genitalia, gynecomastia, tall stature with long legs, infertility (azoospermia), insulin resistance, language problems

31
Q

Turner syndrome findings

A

Female genitalia, ovarian dysgenesis (streak ovaries), short stature, shield shaped chest with widely-spaced nipples, cardiac abnormalities (coarctation of aorta, bicuspid aortic valve), webbed neck

32
Q

Complete androgen insensitivity syndrome

A

46XY

Androgen receptor mutation

Testes, female external genitalia, absence of Mullerian duct derivatives, sparse pubic hair, spontaneous pubertal breast development (aromatization of androgens to estrogens)

Inguinal/labial masses, amenorrhea

Raise as female

33
Q

Partial androgen insensitivity syndrome

A

46XY

Androgen receptor mutation but retain some response

Infancy with ambiguous genitalia

Testes, absent Mullerian derivatives, Wolffian ducts abnormal, undervirilized external genitalia

Enlargement of phallus at puberty but still small

Raise as male or female?

34
Q

5-alpha-reductase deficiency

A

Impaired conversion of testosterone to DHT

46XY with undervirilization

Testes, Wolffian structures, absent Mullerian structures, small phallus, urogenital sinus with perineal hypospadias, blind vaginal pouch raise

Progressive virilization at puberty

Low fertility

High in Papua New Guinea, Turkey, Dominican, Middle East

35
Q

Testicular DSD

A

46XX

Translocation of SRY onto X chromosome

Normal testicles, male internal and external genitalia

36
Q

21-hydroxylase deficiency

A

Ovaries, female internal genitalia, variable external genitalia

Present in infancy with ambiguous genitalia and salt-wasting

Replace cortisol and aldosterone

Repro/GU Matt (21 decks)

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