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Repro > Disorders of sexual development > Flashcards

Disorders of sexual development Flashcards

1
Q

Before what week is the sex of the fetus indistinguishable

A

before week 6

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2
Q

what happens to late germ cells? two things

A

1) Disintegrate

2) may develop into extragonadal tumors

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3
Q

male and female genital ducts are derived from what

A

mesonephrons

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4
Q

At what week does male internal genitalia begin development

A

week 8

-note female development starts at week 12

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5
Q

what cells secrete AMH

A

sertoli cells

-note AMH causes mullerian degeneration

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6
Q

what converts testosterone to DHT

A

5 alpa reductase 2

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7
Q

what hormone do you need for external male genital

A

DHT

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8
Q

what inhibits growth of vesicovaginal septum preventing the development of the vagina

A

DHT

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9
Q

what gene has one exon, GC-rich in 5’ region

A

SRY gene

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10
Q

SRY gene has 2 zince-finger rich recognition sites for what

A

Sp1

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11
Q

what part of the SRY gene binds to the minor grrove

A

HMG octamer in the protein

-Not high yield

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12
Q

An SRY mutation that deals with HMG octamer mutation will cause what

A

no binding to DNA, thus no male differentiation. So we get 46, XY female. This person looks like a girl, but has a Y chromosome

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13
Q

what drags the SRY over doing the crossing over phase, thus causing the SRY gene to be NOT on the Y chromosome

A

Pseudo Autosomal Region (PAR)

  • this is a SRY translocation to X
  • so 46, XX female but looks male, and 46, XY male that looks female
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14
Q

what two proteins are required in order to have SRY expression

A

WT-1 and SF1

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15
Q

Gonads and adrenal development require what protein

A

SF1 (steroideogenic factor)

-this allows sexual determination, sexual differentiation, steroidogenesis, lipid metabolism

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16
Q

what transcription factor mutation can cause camptomelia dysplasia

A

SOX9 mutation

-camptomelia dysplasia is 46 XY, sex reversal (cant determine the sex, in her words)

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17
Q

what mutation causes bowing of long bones, shortened long bones, and sketetal dysplasia like hypoplastic scapulae, narrowed iliac bones, chest hypoplasia (respiratory distress)

A

Campomelia dysplasia which is caused by SOX9 mutation.

-she says you cant determine the sex 46 XY (sex reversal)

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18
Q

what is SOX9’s only target, which if it doesnt hit we will get ovary development

A

Anti-mullerian hormone

-no SOX9, mullerian ducts do not degenerate

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19
Q

what attaches to serene-threonine protein kinases (single transmembrane domain)

A

Anti-mullerian hormone, which attaches to the mullerian duct and causes apoptosis

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20
Q

Mullerian (paramesonephric) ducts and Wolffian (mesonephric) ducts, which one is hormone-INDEPENDENT development

A

Mullerian

21
Q

what is crucial for ovary development but not testes development. And a mutation or deletion of this will result in congenital adrenal hypoplasia and hypogonadotropic hypogonadism

A 
DAX1 gene (on x chromosome)
-she has that they would get testicular development occurs; 46 XX male (what she had on slide)
22
Q

Duplication of this in males can cause 46 XY that has a stronger woman phenotype

A

DAX1. Note that duplication of DAX1 in females has no affect

-in the duplicated state there may be insufficient SRY to repress DAX1 expression

23
Q

what are some ways we can get sex reversal

A

1) SRY mutation
- 46 XY females
- 46 XX males w/ SRY translocated to the X
2) SOX9 mutations
3) DAX1 mutations

24
Q

No sex hormones or cortisol. Elevated production of mineralocorticoids. Phenotypically female but unable to mature. Is it 17alpha-hydroxylase, 17beta-hydroxysteroid dehydrogenase, aromatase, or 5alpha-reductase

A

17alpha-hydroxylase

25
Q

Elevated testosterone and androstenedione. Masculization of female genitalia. Pubertal failure. Is it 17alpha-hydroxylase, 17beta-hydroxysteroid dehydrogenase, aromatase, or 5alpha-reductase

A

Aromatase

26
Q

No testosterone. Elevated estrogens from androstenedione. Increased FSH and LH. Phenotypically female. Virilization at puberty.

Is it 17alpha-hydroxylase, 17beta-hydroxysteroid dehydrogenase, aromatase, or 5alpha-reductase

A

17beta-hydroxysteroid dehydrogenase

27
Q

Female genitalia. Partial virilization at puberty. Elevated testosterone to DHT ratio. Is it 17alpha-hydroxylase, 17beta-hydroxysteroid dehydrogenase, aromatase, or 5alpha-reductase

A

5alpha-reductase

28
Q

when should the possibility of interest should be considered for interest and fetal mosaicism

A

whenever an infant has both hypospadias and an undescended testis

29
Q

Anytime you have a persistant urogenital sinus you will have a boy or girl

A

girl

30
Q

what forms the lower 2/3rds of the vagina

A

Urogenital sinus

-note the mullerian ducts form the upper third of the VAGINA

31
Q

what makes a true hermaphrodite (ovotesticular disorder)?

A

both ovarian and testicular tissue in one or both gonads

-Ovotestis is the most common gonad found. has both tissues in it

32
Q

what causes turners? gonadal agenesis, gonadal dysgenesis, or embryonic testicular regression syndrome

A

Gonadal dysgenesis

33
Q

Malformations include distinctive facial features (wide ears), cleft palate, cardiac defects, UNDERDEVELOPED EXTERNAL GENITALIA IN MALES, postaxial polydactyly, and 2-3 syndactyly of the toes

A

Smith-Lemli-Opitz syndrome

  • Cholesterol synthesis defect
  • deficiency of the enzyme 7-dehydrocholesterol reductase (7-DHC)
34
Q

If this enzyme is gone we cannot make DHT

A

5alpha-reductase

35
Q

what some common endocrine disrupters that can cause male pseudohermaphrodite (Congenital NON-GENETIC 46 XY DSD)

A

Bisphenol-A, Phthalates, Parabens, PBDE, PCB, Dioxin, Pesticides/herbicides, heavy metals

36
Q

when do we see cryptorchidism and hypospadia be common

A

true hermaphrodite (Ovotesticular DSD)

37
Q

what is the most frequent cause of male pseudohermpahroditism

A

17beta-hydroxysteroid dehydrogenase

  • this is bc testosterone deficiency
  • note 5 alpha-reductase deficiency can cause this also
38
Q

what enzyme deficiency do we see at puberty a deeping voice, clitoral enlargment, hirsutism, male muscularity, breast development

A

17beta-hydroxysteroid dehydrogenase

39
Q

which type of 5alpa-reductase deficiency is expressed before and after birth. Expressed in prostate, wolffian derivatives, scrotom, liver

A

type 2

-note type 1 is expressed in non-genital tissues

40
Q

what is strongly suspected w/ normal blood testosterone but elevated T:DHT ratio

A

5alpa-reductase deficiency

41
Q

what deficiency can cause 46 XX, so a female but look male

A

aromatase (CP450) deficiency

-this leads to increase testosterone

42
Q

Virilization in a pregnant female caused by excess androgen. What happens if this elevation is before 12 weeks

A

labioscrotal fusion and clitoral enlargement.

-note after 12 weeks its just clitoral enlargement

43
Q

what is the most common cause of male hypogonadism

A

Klinefelter

  • the more X’s you have the worst it will be
  • small firm testes, azoospermia
  • elevated gonadotropin levels
44
Q

what does the PT have if he presents w/ high estrogen:testosterone ratio responsible for feminization and gynecomastia

A

klinefelter

  • note FSH and LH are well above normal
  • testosterone is well below normal
45
Q

cystic hygroma leads to what and when do we see this

A

leads to web neck

  • see this in turner’s
  • lack of ovarian development leads to deficient secretion of sex steroids
  • elevated LH/FSH
46
Q

presence of any Y chromosome in this mosaic will increase risk of gonadoblastoma

A

turner’s

47
Q

what is considered male turners

A

Noonan syndrome

  • autosomal dominant
  • mutations in PTPN11 gene
48
Q

KRAS or RAF1 in noonan syndrome. which one has heart problems (hypertrophic cardiomyopathY)

A

RAF1

-note the KRAS is the more severe form

49
Q

Ptosis, short stature, pectus excavatum, webbed and short-appearing neck. Oh and its a MALE

A

Noonan syndrome

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