Disorders of Sexual Differentiation

Question 1

What genes are important in urogenital ridge formation ?

Answer 1

WT1
SF1
(CBX2)

Question 2

What genes are important in MALE sexual determination?

Answer 2

SRY
SOXG
SF1

Question 3

What genes are important in FEMALE sexual determination?

Answer 3

RSPO1
WNT4
DAX1

Question 4

At what weeks does the bipotential gonad form?

Answer 4

weeks 5-6

Question 5

At what weeks do granulosa and theca cells form into the ovary?

Answer 5

Weeks 12-13

Question 6

What types of cells compose the cells at the urogenital ridge?
•where do the primordial germ cells originate?

Answer 6

Urogenital Ridge:
•Intermediate mesoderm and coelomic mestothelium

Primordial Germ Cells:
• Yolk sac endoderm migrate to the urogenital ridge

Question 7

At what weeks should internal and external genitalia differentiation be complete?

Answer 7

Weeks 8-12

Question 8

What diseases are associated with mutations in WT1?

Answer 8

• Nephrotic Syndrome
• Wilms Tumor
• Deny Drash Syndrome
• Frasier Syndrome
• WAGR syngrome

Question 9

What triad should you look for in deny drash?

Answer 9

1. Nephropathy
2. Wlims Tumor
3. Genital Abnormalities

Question 10

What triad should you look for in frasier syndrome?

Answer 10

1. Female genitalia with XY karyotype
2. Streak ovaries that frequently develop into Gonadoblastomas
3. Nephrotic Syndrome that can progress to ESRD

Question 11

What Triad should you look for in WAGR syndrome?

Answer 11

46 XY with variable gonadal dysgenesis

1. Hypospadius
2. Bifid Scrotum
3. Cryptoorchism

Question 12

What happens when you get mutations in SF1?

Answer 12

• Adrenal/Gonadal Dysgenesis

- Ambiguous Genitalia

Question 13

What event reduces the number of males born with cryptorchism by 1/3 from the time they are born to the time they are 1 year old?

Answer 13

Mini-puberty