Abnormal sexual Development

Question 1

What week of gestation do testes differentiate?

Answer 1

6th week gestation

Question 2

What is the default sex?

Answer 2

female

Question 3

What must be present for gonads to become testes?

Answer 3

Testes Determining Factor (TDF)

SRY

Question 4

Where is SRY located, in what genetic region?

Answer 4

Located on the short arm of the Y chromosome in the SRY region

Question 5

The wollfian ducts are also known as the _____ and represent the ______ (male /female) structures.

Answer 5

Mesonephric ducts, male.

Question 6

The Mullerian ducts are also known as the ____ and represent the _____(male/female) structures.

Answer 6

Paramesonephric ducts, female

Question 7

What contributes to the regression of the wolffian ducts?

Answer 7

absence of SRY, presence of estrogen

Question 8

Anti-Mullerian Hormone (AMH) is produced by what cells?

Answer 8

Sertoli Leydig cells

Question 9

AMH is responsible for what in terms of sexual differentiation?

Answer 9

Regression of mullerian ducts, abdominal descent of testes

Question 10

When do the sertoli Leydig cells begin to produce testosterone during embryological development?

Answer 10

8 weeks gestation

Question 11

What does testosterone stimulate during sexual differentiation?

Answer 11

Stimulates descent of testes into inguinal canal, differentiation of Wolffian ducts

Question 12

What do the wolffian ducts turn into?

Answer 12

Epididymis, vas deferens, seminal vesicles

Question 13

What do the mullerian ducts turn into?

Answer 13

Uterus, Fallopian tubes, upper vagina

Question 14

at what weeks gestation does external masculinization occur?

Answer 14

Week 9 - 14

Question 15

What are the three embryologic structures that will become the external genitalia?

Answer 15

Genital tubercle, urogenital sinus, labioscrotal swelling

Question 16

Testosterone must be converted to _____ by the enzyme_____ in order for masculine external genitalia to develop.

Answer 16

Dihydrotestosterone (DHT), 5 alpha reductase

Question 17

By what week gestation is female external genitalia developed?

Answer 17

20 weeks

Question 18

The Genital Tubercle turns into the _____ in the presence of DHT

Answer 18

Penis

Question 19

The Genital Tubercle turns into the ____ without presence of DHT

Answer 19

Clitoris

Question 20

The Urogenital Sinus turns into the ____ in the presence of DHT

Answer 20

Urethra

Question 21

The Urogenital Sinus turns into the ______ in the absence of DHT

Answer 21

Urethra, vagina, labia minora

Question 22

The labialscrotal swellings turn into the ____ in the absence of DHT

Answer 22

Labia Majora

Question 23

What three syndromes can cause 46 XX but male phenotype?

Answer 23

CAH, High maternal androgen state, Aromatase deficiency

Question 24

What is the most common cause of ambiguous genitalia?

Answer 24

Congenital Adrenal Hyperplasia

Question 25

What two types of ovarian tumors can cause high maternal androgen production during pregnancy?

Answer 25

Pregnancy Luteoma, Theca Lutein Cysts

Question 26

Do Theca lutein cysts cause fetal virilization?

Answer 26

No

Question 27

Do Pregnancy luteomas cause fetal virilization?

Answer 27

Yes

Question 28

For patients with Androgen Insensitivity syndrome, What is there Karyotype and what is their phenotypic external genitalia?

Answer 28

46 XY, Female

Question 29

Do patients with Androgen Insensitivity have a uterus?

Answer 29

No

Question 30

When should testes be removed in a patient with androgen insensitivity syndrome?

Answer 30

After completion of puberty

Question 31

What is the genetic inheritance pattern for Androgen Insensitivity?

Answer 31

X linked Recessive

Question 32

What is the genetic inheritance pattern for 5 alpha reductase deficiency?

Answer 32

Autosomal Recessive

Question 33

True or false: in a patient with 5 alpha reductase deficiency, starting at puberty masculinization can occur?

Answer 33

True

Question 34

When should the testes be removed in a patient with Swyer syndrome?

Answer 34

As soon as possible

Question 35

What is the most common gonadal tumor to occur in individuals with 46 XY karyotype and female phenotype?

Answer 35

Gonadoblastoma

Question 36

What is the most common karyotype of true hermaphrodites?

Answer 36

46 XX

Question 37

In a baby born with ambiguous genitalia, what should be ruled out first?

Answer 37

CAH

Question 38

What tests should be ordered to rule out CAH?

Answer 38

17 - OHP, 11- deoxycorticosterone, 11-deoxycortisol

Question 39

What will ordering a FISH accomplish in the workup of ambiguous genitalia?

Answer 39

Presence of SRY