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Reproductive > Disorders of Sex Development > Flashcards

Disorders of Sex Development Flashcards

1
Q

46, XX DSD

  1. internal genitalia
  2. external genitalia
  3. fertility
  4. gender assignment
A
  1. normal ovaries, uterus
  2. virilized
  3. potential to bear children
  4. female
    can be due to exposure of exogenous androgens through mother
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2
Q

46, XY DSD

  1. internal genitalia
  2. external genitalia
  3. fertility
  4. gender assignment
A
  1. wolffian structures can be normal, hypo plastic, or absent; no mullerian structures
  2. under-virilized
  3. ?
  4. male, exception: complete androgen resistance, completely feminized genitalia, family decision
    low: testosterone
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3
Q

What are the types of gender reassignment surgeries?

Which is easier to do?

A
  1. reduction of size of phallus, creation of vagina (easier)

2. constructing a phallus

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4
Q

steroidogenic factor 1 (SF1)

A

transcription factor, nuclear receptor: testicular development
development of genital ridge into biopotential gonad
mutation: 46, XY sex reversal or ambiguous genitalia
disease: gonadal and adrenal dysgenesis

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5
Q

Wilms tumor 1 (WT1)

A

transcription factor: testicular development
development of genital ridge into biopotential gonad; also important for KIDNEY
mutation: 46, XY sex reversal or ambiguous genitalia
disease: Frasier syndrome, Denys-Drash syndrome with Wilms tumor

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6
Q

LIM1

A

gene

gonadal development

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7
Q

EMX2

A

gene

gonadal development

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8
Q

SRY

A

Y chromosome
transcription factor: required for differentiation of gonad into testis (absent: gonad becomes ovary)
mutation: gonadal dysgenesis

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9
Q

SOX9

A

transcription factor: testicular development

mutation: campomelic dysplasia, male gonadal dysgenesis or XY sex reveral

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10
Q

RSPO1

A

development of ovary

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11
Q

WNT4

A

development of ovary

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12
Q

DAX1

A

transcriptional regulator, nuclear protein receptor: inhibits gonad from becoming a testis
mutation: gonadal dysgenesis, congenital adrenal hypoplasia

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13
Q

AMH/MIS

A

protein: causes regression of fetal mullein duct, Leydig cell inhibitor
mutation: persistent mullerian duct syndrome

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14
Q

StAR

A

steroidogenic acute regulatory protein: cholesterol into mitochondria
mutant: congenital lipoid adrenal hyperplasia

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15
Q

DHH

A

pro testis

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16
Q

AR

A

androgen receptor transcription factor

mutant: male pseudohermaphrodism, complete or partial androgen insensitivity syndrome

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17
Q

AMH/MIS type II receptor

A

kinase receptor

mutant: persistent mullerian duct syndrome

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18
Q

HSD17B3

A

17B-hydroxysteroid dehydrogenase, 17-ketosteroid reductase

mutant: male pseudohermaphroditism

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19
Q

SRD5A2

A

5a-reductase typer 2
mutant: male pseudohermaphroditism
virilization may occur at puberty

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20
Q

CYP17

A 
17-hydroxylase; 20-22-lyase
mutant: male pseudohermaphroditism
low: cortisol
increased deoxycortisone 
Sx: HTN, hypokalemia
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21
Q

CYP21

A

21-hydroxylase

mutant: congenital adrenal hyperplasia, female pseudohermaphroditism

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22
Q

HSD3B2

A

3B-hydroxysteroid dehydrogenase type II
mutant: congenital adrenal hyperplasia
can cause 46, XX or 46, XY DSD

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23
Q

CYP11B1

A

11B-hydroxylase

mutant: congenital adrenal hyperplasia

24
Q

FOXL2

A

development of ovary

25
Q

Leydig cell

A

secrete: testosterone

26
Q

Sertoli cell

A

secrete: AMH

27
Q

urogenital sinus

A

male: prostate gland

28
Q

genital tubercle

A

male: glans penis
female: clitoris

29
Q

labiourethral folds

A

male: urethra, ventral shaft of penis
female: labia minora

30
Q

labiosacral folds

A

male: scrotum
female: labia majora

31
Q

congenital adrenal hyperplasia

A

MOST COMMON cause of ambiguous genitalia
AR
46, XX DSD
potentially FERTILE
most common defect: 21-hydroxylase deficiency (CYP21); 11-B-hydroxylase deficiency (CYP11B1), 3B-hydroxysteroid dehydrogenase deficiency (HSD3B2 and also a cause of 46, XY DSD)
elevated: 17-hydroxyprogesterone, DHEA, androstenedione, ACTH, PRA (indicates aldosterone deficiency)
low: cortisol
Sx: HTN, areolar hyperpigmentation, dehydration, hyponatremia, hyperkalemia, metabolic acidosis
classic: newborn, salt wasting
Tx: glucocorticoids, fludrocortisone

32
Q

testosterone biosynthetic defects

A

AR
46, XY DSD
HCG stimulation: low testosterone and DHT

33
Q

Leydig cell hypoplasia

A

AR
46, XY DSD
HCG stimulation: low testosterone and DHT

34
Q

5a-reductase deficiency

A

AR
46, XY DSD
mutation: SRD5A2
elevated: testoterone/DHT ratio (after HCG stimulation)
puberty: virilization occurs in many
skin fibroblast culture for 5a-reductase deficiency

35
Q

androgen insensitive syndrome

A 
X linked
46, XY DSD
mutation: AR
elevated: AMH
normal: testosterone levels with normal rise with HCG stimulation
risk: gonadoblastoma
36
Q

gonadal dysgenesis (Swyer syndrome)

A 
sporadic and familial
sex chromosome DSD
mutation: SRY (most it is intact)
elevated: gonadotropins
low: AMH
HCG stimulation: low testosterone and DHT
risk: germ cell tumor
complete: phenotypic females (not ambiguous)
Sx: amenorrhea at puberty
37
Q

ovotesticular DSD

  1. internal genitalia
  2. external genitalia
  3. fertility
  4. gender assignment
A

sporadic and familial

most: 46, XX; also sex chromosome DSD
1. both testicular and ovarian tissue, most uterus
2. usually ambiguous; can have normal male or female
3. ?
4. depends on external/internal genitalia (many develop gynecomastia and menstruate)
risk: gonadoblastoma

38
Q

What should the penile length be of a full-term newborn?

A

greater than 2.5 cm

39
Q

anogenital ratio

A

AF/AC

AF: distance from the anus to the fourchette
AC: distance from the anus to the base of the clitoris

anogenital ratio greater than 0.5: fusion of labioscrotal folds (virilization)

normal full term phallus: 2.5 cm

40
Q

sex chromosome DSD

  1. internal genitalia
  2. external genitalia
  3. fertility
  4. gender assignment
A

karyotype is not typical 46, XX or 46, XY

  1. one dysgenic testis, one streak gonad, no ovarian tissue
  2. ambiguous
  3. ?
  4. MGD: most female
41
Q

mixed gonadal dysgenesis (partial gonadal dysgenesis)

A

45,X/46,XY
sex chromosome DSD
ambiguous asymmetrical external genitalia: enlarged labioscrotal fold on side with testis
risk: germ cell tumor

42
Q

chimerism

A

46,XX/46,XY

sex chromosome DSD

43
Q

Turner syndrome

A

45,X

sex chromosome DSD with un-ambigious genitalia

44
Q

Klinefelter syndrome

A

47,XXY

sex chromosome DSD with un-ambigious genitalia

45
Q

aromatase deficiency

A

46, XX DSD

46
Q

disorders of androgen synthesis or action

  1. internal genitalia
  2. external genitalia
  3. fertility
  4. gender assignment
A 
46, XY DSD
1. testes in abdomen
2. female
3. ?
4. ?
mutations: StAR, CYP11A
low: testosterone
elevated: LH
HCG stimulation: no rise in testosterone
47
Q

congenital lipoid adrenal hyperplasia

A

46, XY DSD
mutation: StAR, CYP11A
no steroid hormones are made, severe salt wasting
often fatal

48
Q

CYP11A

A

cholesterol side chain cleavage enzyme

mutation: congenital lipoid adrenal hyperplasia

49
Q

3B-hydroxysteroid dehydrogenase deficiency

A 
46, XY DSD
mutation: HSD3B2
low: cortisol
increased deoxycortisone 
Sx: HTN, hypokalemia
50
Q

17B-hydroxysteroid dehydrogenase or 17-ketosteroid reductase deficiency

A

46, XY DSD
mutation: HSD17B3
NO signs of CAH
HCG stimulation: low testosterone, DHT

51
Q

persistent mullerian duct syndrome

A

46, XY
NO ambiguous genitalia
mutation: AMH or AMHRII
Sx: cryptorchidism, hernia uteri inguinale
few are fertile, high incidence of postnatal testicular degeneration

52
Q

congential anorchia

A

testes function at least until 16 week of gestation then disappeared
elevated: LH, FSH
low: testosterone, AMH
Tx: testosterone therapy at puberty

53
Q

Denys Drash syndrome

A

WT1 mutation

nephropathy, wilms tumor, genital abnormalities

54
Q

Frasier syndrome

A

WT1 mutation
normal external female genitalia with XY karyotype
streak gonads that often develop into gonadoblastoma
nephrotic syndrome

55
Q

Smith-Lemli Optiz

A

mutaiton in 7-dehydrocholesterol reductase leading to increase in 7-dehydrocycholesteol
look female
XY: undervirilized

Reproductive (12 decks)

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