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General Gynecology > Abnormal sexual Development > Flashcards

Abnormal sexual Development Flashcards

1
Q

What week of gestation do testes differentiate?

A

6th week gestation

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2
Q

What is the default sex?

A

female

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3
Q

What must be present for gonads to become testes?

A

Testes Determining Factor (TDF)

SRY

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4
Q

Where is SRY located, in what genetic region?

A

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

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5
Q

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

A

Mesonephric ducts, male.

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6
Q

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

A

Paramesonephric ducts, female

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7
Q

What contributes to the regression of the wolffian ducts?

A

absence of SRY, presence of estrogen

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8
Q

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

A

Sertoli Leydig cells

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9
Q

AMH is responsible for what in terms of sexual differentiation?

A

Regression of mullerian ducts, abdominal descent of testes

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10
Q

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

A

8 weeks gestation

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11
Q

What does testosterone stimulate during sexual differentiation?

A

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

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12
Q

What do the wolffian ducts turn into?

A

Epididymis, vas deferens, seminal vesicles

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13
Q

What do the mullerian ducts turn into?

A

Uterus, Fallopian tubes, upper vagina

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14
Q

at what weeks gestation does external masculinization occur?

A

Week 9 - 14

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15
Q

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

A

Genital tubercle, urogenital sinus, labioscrotal swelling

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16
Q

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

A

Dihydrotestosterone (DHT), 5 alpha reductase

17
Q

By what week gestation is female external genitalia developed?

A

20 weeks

18
Q

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

A

Penis

19
Q

The Genital Tubercle turns into the ____ without presence of DHT

A

Clitoris

20
Q

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

A

Urethra

21
Q

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

A

Urethra, vagina, labia minora

22
Q

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

A

Labia Majora

23
Q

What three syndromes can cause 46 XX but male phenotype?

A

CAH, High maternal androgen state, Aromatase deficiency

24
Q

What is the most common cause of ambiguous genitalia?

A

Congenital Adrenal Hyperplasia

25
Q

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

A

Pregnancy Luteoma, Theca Lutein Cysts

26
Q

Do Theca lutein cysts cause fetal virilization?

A

No

27
Q

Do Pregnancy luteomas cause fetal virilization?

A

Yes

28
Q

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

A

46 XY, Female

29
Q

Do patients with Androgen Insensitivity have a uterus?

A

No

30
Q

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

A

After completion of puberty

31
Q

What is the genetic inheritance pattern for Androgen Insensitivity?

A

X linked Recessive

32
Q

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

A

Autosomal Recessive

33
Q

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

A

True

34
Q

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

A

As soon as possible

35
Q

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

A

Gonadoblastoma

36
Q

What is the most common karyotype of true hermaphrodites?

A

46 XX

37
Q

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

A

CAH

38
Q

What tests should be ordered to rule out CAH?

A

17 - OHP, 11- deoxycorticosterone, 11-deoxycortisol

39
Q

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

A

Presence of SRY

General Gynecology (11 decks)

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