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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
Leydig cell
secrete: testosterone
26
Sertoli cell
secrete: AMH
27
urogenital sinus
male: prostate gland
28
genital tubercle
male: glans penis female: clitoris
29
labiourethral folds
male: urethra, ventral shaft of penis female: labia minora
30
labiosacral folds
male: scrotum female: labia majora
31
congenital adrenal hyperplasia
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
testosterone biosynthetic defects
AR 46, XY DSD HCG stimulation: low testosterone and DHT
33
Leydig cell hypoplasia
AR 46, XY DSD HCG stimulation: low testosterone and DHT
34
5a-reductase deficiency
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
androgen insensitive syndrome
``` X linked 46, XY DSD mutation: AR elevated: AMH normal: testosterone levels with normal rise with HCG stimulation risk: gonadoblastoma ```
36
gonadal dysgenesis (Swyer syndrome)
``` 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
ovotesticular DSD 1. internal genitalia 2. external genitalia 3. fertility 4. gender assignment
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
What should the penile length be of a full-term newborn?
greater than 2.5 cm
39
anogenital ratio
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
sex chromosome DSD 1. internal genitalia 2. external genitalia 3. fertility 4. gender assignment
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
mixed gonadal dysgenesis (partial gonadal dysgenesis)
45,X/46,XY sex chromosome DSD ambiguous asymmetrical external genitalia: enlarged labioscrotal fold on side with testis risk: germ cell tumor
42
chimerism
46,XX/46,XY | sex chromosome DSD
43
Turner syndrome
45,X | sex chromosome DSD with un-ambigious genitalia
44
Klinefelter syndrome
47,XXY | sex chromosome DSD with un-ambigious genitalia
45
aromatase deficiency
46, XX DSD
46
disorders of androgen synthesis or action 1. internal genitalia 2. external genitalia 3. fertility 4. gender assignment
``` 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
congenital lipoid adrenal hyperplasia
46, XY DSD mutation: StAR, CYP11A no steroid hormones are made, severe salt wasting often fatal
48
CYP11A
cholesterol side chain cleavage enzyme | mutation: congenital lipoid adrenal hyperplasia
49
3B-hydroxysteroid dehydrogenase deficiency
``` 46, XY DSD mutation: HSD3B2 low: cortisol increased deoxycortisone Sx: HTN, hypokalemia ```
50
17B-hydroxysteroid dehydrogenase or 17-ketosteroid reductase deficiency
46, XY DSD mutation: HSD17B3 NO signs of CAH HCG stimulation: low testosterone, DHT
51
persistent mullerian duct syndrome
46, XY NO ambiguous genitalia mutation: AMH or AMHRII Sx: cryptorchidism, hernia uteri inguinale few are fertile, high incidence of postnatal testicular degeneration
52
congential anorchia
testes function at least until 16 week of gestation then disappeared elevated: LH, FSH low: testosterone, AMH Tx: testosterone therapy at puberty
53
Denys Drash syndrome
WT1 mutation | nephropathy, wilms tumor, genital abnormalities
54
Frasier syndrome
WT1 mutation normal external female genitalia with XY karyotype streak gonads that often develop into gonadoblastoma nephrotic syndrome
55
Smith-Lemli Optiz
mutaiton in 7-dehydrocholesterol reductase leading to increase in 7-dehydrocycholesteol look female XY: undervirilized

Reproductive (12 decks)

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