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Unit 1 ID+LC > Embry and CAH II > Flashcards

Embry and CAH II Flashcards

1
Q

Classification of disorders of sex development (DSD)

A

46, XX DSD (virilized/male-ish XX)

46,XY DSD (undervirilized XY)

  • leads to defects in adrenal and testicular steroidogenesis
  • highly variable presentation
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2
Q

At term how long should stretched penile length be?

A

> 2.5 cm

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3
Q

FISH for Y is done for what? How long does that take?

What other 2 methods can you use for clinical eval of DSD?

A
  1. FISH: Find out if SRY is present in infants with DSD
    - may be undervirulized male
    - up to 48 hours
  2. Sending karyotype or microarray works too but may take up to a week

________
based on above results . . .
3. Ultrasound for a uterus
- if you have uterus, probably AMH wasnt present, and gonad is probably an ovary

  1. Laparoscopy
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4
Q

Clinical causes that result from 46, XX DSD

A
  1. 95% of time: CAH
  2. 46, XX sex reversal (SRY translocation to X ch)
  3. Ovotesticular DSD
  4. Gestational hyperandrogenism
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5
Q

46, XX SRY+

A

will have male genitals

due to cross over with pseudoautosomal region

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6
Q

46, XY DSD

A

Abnormal testicular development. Different levels of development.

  1. Pure or partial gonadal dysgenesis:
  2. Mixed gonadal dysgenesis (45X/46,XY)
  3. Testicular regression
    - vascular cause–> nlly occurs in 1st yr of life
  4. Leydig cell dysfxn
    - AMA but not Testosterone
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7
Q

46, XY WT-1 Mut

A

presents with wilms tumor
- actually male

and nephropathy

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8
Q

46, XY DSD

A

defects in testosterone metabolism

*recall that this leads to defects in adrenal and testicular steroidogenesis

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9
Q

5a-reductase deficiency

A

female until puberty

46,XY DSD: males are undervirulized

  • testes usually in inguinal canal or labial scrotal folds
  • at puberty, spontaneous virilization occurs

autosomal recessive disorder
- results in low DHT levels

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10
Q

Androgen insensititivy syndrome (46, XY)

A

Complete or partial
- defect in androgen action due to mut in androgen receptor gene
(androgen prod but cannot respond)
- have nl female external genitalia w/ short vagina
- Testes develop (but fail to descend)
- absence of Mullerian structures (due to production of AMH from testes)
- Wollfian ducts regress (due to lack of T)
- feminizing puberty without menses

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11
Q

In indiv with androgen insensitivity syndrome (46, XY DSD), what happens at puberty?

A

spontaneous breast development due to T conversion to estrogen

Female gender identity

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12
Q

What is CAH?

How does 46, XX DSD CAH present?

A

CAH is a family of disorders leading to decrease in cortisol –> decrease neg feedback on ACTH secretion –> oversecretion of ACTH –>
adrenal hyperplasia and excessive synthesis of adrenal products

Infant girls presents with genital ambiguity, but have nl uterus and ovaries.

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13
Q

what lvls would you expect with 21-hydroxylase def? (318)

A
  1. overproduction of androgens
    ( high 17-OH progesterone)
  2. lower production of mineralocorticoids
  3. High renin activity

*all given female gender

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14
Q

presentation with 21-hydroxylase def

A

most common type of CAH

  1. presents in infancy (salt wasting) or childhood (precocious puberty)
    - hypernatremia
    - hypokalemia
  2. XX virilization (male-ish development due to high lvl androgens)
  3. Hyperpigmentation
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15
Q

tx for 21-hydroxylase def

A
  1. surgery in females
  2. replace deficient hormones
    - Glucocorticoid def –> hydrocorticsone
    - Mineralocorticoid def –> florinef
  3. suppress ACTH + androgen overproduction
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16
Q

11 B -hydroxylase def lvls

A

Second most common form of CAH (5%)

  1. low aldosterone
  2. no cortisol synth –> high ACTH –> High androgens and MC activity (due to deoxycorticosterone) –> high BP
17
Q

Findings in 11 B -hydroxylase def indiv

A
  1. virulization
  2. no salt wasting (11-deoxycorticosterone MC act)
  3. HTN
18
Q

StAR protein def findings

A
  1. Females have nl genitalia
    Males have female external genitalia
  2. Salt wasting
  3. Fatal if not detected early in infancy
  4. Accumulation of cholesterol esters in the adrenocortical tissue
19
Q

StAR protein

A

steroidogenic acute regulatory protein

- involved in transfer of cholesterol from outer to inner mito membrane

20
Q

17a hydroxylase def presentation

A
  1. HTN
  2. High MC (due to high ACTH)
  3. females born w/ nl genitalia and present at puberty with failure to devel 2ndary sex char.
  4. males born undervirulized (pseudohermaphrodism - ambiguous genitalia)
21
Q

Disorders of sex development (DSD) stem from alterations in what 3 main processes?

A
  1. Gonadal differentiation
  2. steroidogenesis
  3. Androgen action
22
Q

The most common 46, XX DSD is _____ (which is secondary to ______.)

A

CAH

21-hydroxylase deficiency

*another way of putting it: the most common type of CAH is 21 hydroxylase deficiency, which accounts for 95% of CAH cases

23
Q

Ovotesticular DSD

- presents with

A

both ovarian and testicular tissue

  • hermaphrodite
  • often have 46 XX
24
Q

AMH is secreted by _________ during embryogenesis of the fetal male.

A

AMH is secreted by Sertoli cells of the testes during embryogenesis of the fetal male.

  • Recall AMH promotes regression of mullerian structures
25
Q

Indiv with 46, XY DSD w/ complete gonadal dysgenesis will present with with?

A

Normal female genitalia
- No AMH or T production (need testes)

Internal reproductive structures are also female.

26
Q

Mixed/partial gonadal dysgenesis (45X/46,XY)

presents as what?

A

Incomplete testis determination so there is ambiguous genitalia with varying degrees of virilization

ie: abnl testis on one side, ovary on other

27
Q

Gonadal dysgenesis (type of DSD) is due to?

A

Mutation in:

  • SRY
  • WT1
  • SF1
  • NR5A1
  • underexpression of SOX9
28
Q

Most common form of mosaicism is _____. how does it present?

A

45 XO / 46 XY

- male external genitalia (have SRY), but some may have ambiguity w/ abnl testicular formation

29
Q

5a-reductase deficiency results in defective conversion of _____ to ____. What happens if males are born with this?

A

T to DHT

*penile growth and formation of penile urethra are particularly dependent on DHT, so affected males are born with undervirilized external genitalia

30
Q

Cortisol is important in prevention of ____ and regulation of ____.

A

hypoglycemia

vascular tone

31
Q

How do newborn males present with 21-hydroxylase deficiency?

A

do not show evidence of excessive virilization (females do), making their dx diff. w/o proper screening

-newborn boys (and girls) can present with early, life threatening, salt wasting crises w/in first weeks of life.

EARLY DZ AND TX ARE CRITICAL

Unit 1 ID+LC (32 decks)

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