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Medical Genetics > Disorders of Sexual Development > Flashcards

Disorders of Sexual Development Flashcards

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USMLE® Step 1 flashcards Biology 101 flashcards
1
Q

What are some teratogens associated with hypospadias?

A
  • rubella virus
  • oral contraceptives
  • ethanol
  • anticonvulsants
  • cocaine
  • vitamin A
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2
Q

What are some teratogens associated with ambiguous genitalia?

A
  • progestational agents
  • anticonvulsants
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3
Q

What are some teratogens associated with cryptorchidism (undescended testicle)?

A
  • Rubella virus
  • Anticonvulsants
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4
Q

*review embry

A

ok

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5
Q

What are main 2 types of cells that testis produces?

A

Leydig + Sertoli cells

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6
Q

How does a bipotential gonad develop into a testis?

A

presence in SRY gene

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7
Q

What do Leydig cells produce?

A

testosterone –> helps dev male reprod structures

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8
Q

Who do Sertoli cells produce?

A

Anti-Mullerian Hormone (AMH)

AKA Mullerian inhibiting substance

leads to regression of Mullerian duct

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9
Q

Sertoli cells (that produce AMH) are able to support spermatogenesis how?

A
  • from spermatogonia to spermatid to spermatozoa
  • stim by FSH
  • secretes androgen binding hormone (ABP) to help concentrate testosterone in lumen of the seminiferous tubule
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10
Q

Leydig cells (AKA interstitial cells of Leydig) are located where?

A

adjacent to seminiferous tubules in testis

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11
Q

Leydig cells (AKA interstitial cells of Leydig) are stim by what?

A

stim by leutinizing hormone (LH) to produce testosterone

contain cholesterol-lipid droplets –> needed for testosterone production

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12
Q

What does the Wolffian system include?

A
  • seminal vesicles
  • vas deferens
  • ejaculatory duct
  • prostate

note, men need testosterone to FORM these

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13
Q

What do the Mullerian ducts include?

A
  • fallopian tubes
  • uterus
  • vagina

note, men need AMH to make these fade away

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14
Q

What (thinking embry) produces primoridla tissues of external genitalia in both sexes?

A

proliferation of mesoderm and ectoderm around cloacal membrane

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15
Q

Primorida are indistinguishable up until when?

A

week 12

so all bipotential until 12w

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16
Q

What is the most common cause of CAH?

A

CYP21A2 gene

excessive adrogens from the missing enzyme 21-hydroxylase

17
Q

What would you typically see on US for CAH?

A

uterus and ovaries

can have variety of external anatomical

18
Q

in the newborn period, CAH can impact ___ levels?

A

cortisol (and other hormones)

19
Q

What is X-linked adrenal hypoplasia congenita caused by?

A

mutation of NR0B1 gene –> affects DAX1 protein

20
Q

If you see hypospadias + undescended testicle + adrenal insufficiency –> what do you think?

A

X-linked adrenal hypoplasia congenita

46,XY

21
Q

What is Androgen Insensitivity Syndrome cause by?

A

AKA testicular feminization

mutationsin androgen receptor
- X-linked

22
Q

What are the external gen of those w Androgen Insensitivity Syndrome?

A

since they lack virilization bc androgen receptor not functioning and cannot bind testosterone or DHT –> normal female gen w Undescended testes

23
Q

What are the internal organs of those w Androgen Insensitivity Syndrome?

A

so they do NOT have uterus or cervix

they DO have external female genitalia + undescended testes

24
Q

What is the X-linked recessive cause of Kallman syndrome?

A

KAL1

25
Q

What are the AD causes of Kallman syndrome?

A

FGFR1, PROKR2, PROK2, CHD7 or FGF8 genes (causing KS types 2, 3, 4, 5 and 6, respectively)

26
Q

What are the AR causes of Kallman syndrome?

A

PROKR2 and PROK2

27
Q

What are the main features assoc w Kallman syndrome?

A

(can be X-linked, AD, AR)

  • hypogonadotropic hypogonadism
  • dec sense of smell
  • undescended tests and/or hypospadias
  • other anomalies too
28
Q

What is one organ system you definitely want to check when thinking of DSD?

A

kidneys

29
Q

What are the DSD implications with Campomelic dysplasia?

A

so the SOX9 gene causes sex reversal

external genitalia not look male or female
OR
normal female genitalia w typical male chromosome pattern (46,XY)

30
Q

What are the DSD implications in SLO?

A

(caused by def of enzyme 7-dehydrocholesterol reductase) –> chel metab disorder

(DHCR7)

underdeveloped external genitalia in males (so not form testicles or ovaries)

31
Q

What is WT1 responsible for?

A

WT1 –> protein imp in renal and gonadal development

WT1-related disorders = Frasier, Denys Drash

32
Q

What is Frasier syndrome?

A

WT-1 related disorder

46,XY complete gonadal dysgenesis
- nuc 4-5 of intron 9 in WT1 gene

33
Q

What is Denys Drash?

A

WT1-related disorders

XX or XY

  • abnormal devel of external gen in males
  • 90% have Wilm’s tumor
34
Q

What would an SRY translocation OR dup of either SOX9 or SOX3 lead to?

A

46, XX karyotype –> male

so they have XX but also SRY –> leads to male external genitalia from normal –> ambiguous

  • small testes, gynecomastia
  • azoospermia
  • absence of Mullerian structures

identifying male need testosterone supplementation

35
Q

What is Persistent Mullerian Duct syndrome?

A

46,XY

Mutation in MIS or AMH (MIS receptor)

this leads to the paramesonephric ducts PERSIST, meaning that there is a small uterus + paired fall tubes

36
Q

What is 5a-reductase deficiency?

A

46, XY

mutation in 5a-reductase
- so this is needed for converting testos into its more potent androgen DHT (dihydrotestosteron)

they have mesonephric ducts (since these only need testos) + normal production of MIS from Sertoli cells –> paramesonephric duct regression

37
Q

Describe mosaic Mixed Gonadal Dysgenesis

A

chromosomal mosaicism 45,X;46,XY

  • genital diff at birth w asym of int + ext anatomy
  • gonads - dysgenetic
  • wait some time then determine pheno

note, more male phenotype = less cancer risk

note, used to have surgery right away; now wait

38
Q

What syndrome accounts for 15% patients w primary amenorrhea

A

Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH)

XX
- variable anatomy, most w vag dimple
- normal ovaries + fall tubes
- rudimentary uterine remnants

Medical Genetics (14 decks)

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