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Flashcards in Disorders of Sex Development Deck (55)
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1

46, XX DSD
1. internal genitalia
2. external genitalia
3. fertility
4. gender assignment

1. normal ovaries, uterus
2. virilized
3. potential to bear children
4. female
can be due to exposure of exogenous androgens through mother

2

46, XY DSD
1. internal genitalia
2. external genitalia
3. fertility
4. gender assignment

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

3

What are the types of gender reassignment surgeries?
Which is easier to do?

1. reduction of size of phallus, creation of vagina (easier)
2. constructing a phallus

4

steroidogenic factor 1 (SF1)

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

5

Wilms tumor 1 (WT1)

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

6

LIM1

gene
gonadal development

7

EMX2

gene
gonadal development

8

SRY

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

9

SOX9

transcription factor: testicular development
mutation: campomelic dysplasia, male gonadal dysgenesis or XY sex reveral

10

RSPO1

development of ovary

11

WNT4

development of ovary

12

DAX1

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

13

AMH/MIS

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

14

StAR

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

15

DHH

pro testis

16

AR

androgen receptor transcription factor
mutant: male pseudohermaphrodism, complete or partial androgen insensitivity syndrome

17

AMH/MIS type II receptor

kinase receptor
mutant: persistent mullerian duct syndrome

18

HSD17B3

17B-hydroxysteroid dehydrogenase, 17-ketosteroid reductase
mutant: male pseudohermaphroditism

19

SRD5A2

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

20

CYP17

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

21

CYP21

21-hydroxylase
mutant: congenital adrenal hyperplasia, female pseudohermaphroditism

22

HSD3B2

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

23

CYP11B1

11B-hydroxylase
mutant: congenital adrenal hyperplasia

24

FOXL2

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