Step 1 - Repro - Sex Chromosome Disorders

Front 1

XXY male

Back 1

Klinefelter's syndrome. 1:850

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XO female

Back 2

Turner's syndrome. 1:3,000

"Hugs and kiss (XO) from Tina Turner (female)"

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XYY male

Back 3

Double Y male

Front 4

Definition of pseudohermaphrodite

Back 4

Disagreement between phenotypic (external genitalia) and gonadal (testes vs. ovaries) sex. General term including androgen insensitivity syndrome (testicular feminization), congenital adrenal hyperplasia, exogenous androgens during pregnancy, etc.

Front 5

Definition of true hermaphrodite

Back 5

Both ovary and testicular tissue present; ambiguous genitalia. Very rare.

Front 6

What causes female pseudohermaphrotidism?

Back 6

Inappropriate exposure to androgenic steroids, leading to masculinization of external genitalia in the presence of ovaries.

Front 7

What causes male pseudohermaphroditism?

Back 7

Lack of exposure to androgenic steroids, precluding masculinization of external genitalia despite presence of testes.

Front 8

Testicular atrophy, eunuchoid body, long extremities, gynecomastia, tall, female hair distribution

Back 8

Klinefelter's

Front 9

Streak ovaries, webbing of neck, preductal coarcation of the aorta, short stature

Back 9

Turner's

Front 10

Tall, severe acne, normal fertility, normal phenotype

Back 10

Double Y male

Front 11

Most common cause of primary amenorrhea

Back 11

Turner's

Front 12

Which sex chromosome disorders feature Barr bodies?

Back 12

Klinefelter's since the genotype is XXY. Contrast to Turner's which has no barr bodies since genotype is XO.

Front 13

This sex chromosome disorder is associated with antisocial behavior in 1-2% of patients

Back 13

Double Y male

Front 14

These are examples of hypogonadotropic hypogonadism

Back 14

Klinefelter's and Turner's (high levels of FSH and LH suppress GnRH)

Front 15

Why are FSH levels high in Klinefelter's?

Back 15

Dysgenesis of seminiferous tubules (lack of Sertoli cells) leads to decreased inhibin production

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Why are LH levels high in Klinefelter's?

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Dysfunction of Sertoli cells, causing low inhibin levels which cause increased FSH, which increases aromatase in Leydig cells, which depletes testosterone which can no longer feed back to inhibit LH

Front 17

Why are FSH levels high in Turner's?

Back 17

Estrogen levels are low due to absence of ovaries (streak ovaries), removing negative feedback and therefore causing increased LH and FSH

Front 18

XY female

Back 18

Androgen insensitivity

Front 19

Blind pouch vagina, absent uterus and uterine tubes, testes in labia majora

Back 19

Androgen insensitivity

Front 20

Levels of testosterone, estrogen, and LH in androgen insensitivity

Back 20

All elevated

Front 21

This pseudohermaphroditic condition only affects males

Back 21

5-alpha reductase deficiency

Front 22

Ambiguous genitalia until puberty

Back 22

5-alpha reductase deficiency

Front 23

Levels of testosterone, estrogen, and LH in 5-alpha reductase deficiency

Back 23

Testosterone and estrogen levels are normal; LH is normal or high

Front 24

"Penis at 12"

Back 24

5-alpha reductase deficiency. Increase in testosterone causes masculinization and growth of external genitalia. (In utero, external genitalia depend on DHT to grow, which was absent, but in puberty T can cause genital development)

Front 25

What does a defect in the androgen receptor cause in an XY patient?

Back 25

Outwardly normal-appearing female with male gonads (usually undescended, or in labia)

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What does congenital adrenal hyperplasia cause in an XX patient?

Back 26

Female pseudohermaphrodite

Front 27

MCC of adrenal hyperplasia

Back 27

21 hydroxylase deficiency

Front 28

Sexually infantile, no GnRH production

Back 28

Kallman's syndrome. Failure of GnRH neuron migration. Anosmia.