Test 3: 57

Question 1

Androgen insensitivity syndrome

Answer 1

(Testicular feminization) intersex

X-linked recessive condition in 46,XY karyotype

Caused by the mutation of androgen receptor

Patient’s body do not respond to androgens (e.g., testosterone, dehyrotestosterone)

genetically male, no internal genitalia (neither male or female inside), external female

Question 2

AIS will have what internal genitalia?

Answer 2

neither, male or female

both wolffian and mullerian ducts get knocked out

Question 3

AIS will have what external sex organs

Answer 3

Androgen insensitivity syndrome

female

puberty → will develop breast due to aromatization of testosterone to estradiol

Question 4

how will AIS produce breasts

Answer 4

aromatization of testosterone to estradiol during puberty

Question 5

Persistent Müllerian duct syndrome (PMDS)

Answer 5

• Autosomal recessive congenital disorder
• Mutation in AMH or AMH receptor (MISRII)
• Reported in Miniature Schnauzwer dog
• ~25% career, ~2% affected

XY with normal testis, will have both sex ducts because anti-mullerian hormone doesn’t work so will have wolffian and mullerian ducts

Question 6

PMDS will have what internal genitalia?

Answer 6

genetically male

anti-mullarian hormone doesn’t work and mullerian duct will persist. Will also keep Wolffian duct because testosterone still there

both male and female internal organs

Question 7

Freemartinism

Answer 7

male and female twins in cows with shared blood supply

females usually have small or no female internal organs and sometimes male internal organs due to anti-mullerian hormone and testosterone from male fetus

females will be XX/XY chimeria

Question 8

indifferent gonad or bipotential gonad are made of what types of cells

Answer 8

gonadal somatic cells (intermediate mesoderm derivatives)

primordial germ cells (epiblast)

Question 9

gonadal somatic cells and germ cells have ___ origins

Answer 9

different

Question 10

gonadal somatic cells can turn into what

Answer 10

sertoli cells by SOX9 (male) and Granulosa FOXL2 (female)

Interstitial

Question 11

interstitial cells + sertoli cells =

Answer 11

leydig and other interstitial cells

Question 12

interstitial cells + granulosa =

Answer 12

theca, and other interstitial cells

Question 13

male gonad express what transcription factor to change into testis

Answer 13

SRY

Question 14

what does SRY do?

Answer 14

change into testis

SRY→ SOX9→ FGF9, anti mullerian hormone and Cyp26B1

FGF9→ testosterone synthesis from leydig cells

Cyp26B1 → spermagogenesis

Question 15

how does SRY effect females

Answer 15

SOX9 will inhibit Rspo1

FGF9 will inhibit Wnt4

Question 16

how will lack of SRY effect ovary?

Answer 16

Rspo1 will inhibit Sox9

Wnt4 will inhibit FGF9

Question 17

what genes lead indifferent gonad to ovary?

Answer 17

negative SRY

Rspo1→ Wnt4 and b-catenin → Foxl2

Question 18

XX ovotesticular DSD

Answer 18

true hermaphroditism

• XX/XY Mosaicism
• Translocation or duplication of a small portion of chromosome containing SRY, SOX9, or FGF9 gene
• Mutation in RSPO1, Wnt4 etc..

Question 19

DSD

Answer 19

disorder of sex development

Question 20

disorder of sex development

Answer 20

atypical sex

congenital condition

chromosomal

XO turner syndrome, XXY klinefelter, XX/XY chimera

gonadal

46 XY gonadal dysgenesis

46, XY ovotesticular DSD

46,XX testicular DSD

non-gonadal

–Disorders in androgen synthesis or action

–Androgen excess etc

Question 21

•___ induces meiosis in female PGCs(feature of oogenesis)

Answer 21

Retinoic acid

Question 22

•Retinoic acid produced by mesonephros is metabolized by ___ produced by male testis (Sertoli cells).

Answer 22

Cyp26b1

no retinoic acid = no meiosis = no female PGCs = prospermatogonia

Question 23

___ plays critical role in determining brain sex (CAIS vs control XX female)

Answer 23

Androgen

Question 24

preimplanation genetic diagnosis

Answer 24

pre select healthy before implanting

Question 25

genome engineering

Answer 25

CRISPR/ CAS9

can fix DNA

Question 26

why does sex determination clinically matter?

Answer 26

diseases can be sexed linked

reproduction

most DSD are infertile

Question 27

Ovaries and testes are essential for __ and ___ formation

Answer 27

oocyte and sperm

germ cells and niche cells work together to form haploid cells

Question 28

professors research

Answer 28

Using the BTAG lines, we now tested numbers of cytokine conditions to maximize the induction efficiency of BT and AG double positive cells. And we established the most robust induction system where we first induce hIPSCs into incipient mesodermal like cells, iMeLCs, which then further induced into hPGC-like cells by culturing these in aggregates in the presence of BMP4, SCF, EGF, and LIF.