Repro - Pathology (Sex disorders)

Question 1

What gender are patients with Klinefelter syndrome? What is the makeup of their sex chromosomes?

Answer 1

Klinefelter syndrome [male] (XXY)

Question 2

What is the incidence of Klinefelter syndrome?

Answer 2

1:850

Question 3

What are 7 signs/symptoms that may characterize the presentation of Klinefelter syndrome?

Answer 3

(1) Testicular atrophy, (2) Eunuchoid body shape, (3) tall, (4) long extremities, (5) gynecomastia, (6) female hair distribution. May present with (7) developmental delay

Question 4

What chromosomal finding is present in Klinefelter syndrome?

Answer 4

Presence of inactivated X chromosome (Barr body).

Question 5

In what kind of clinical work-up is Klinefelter syndrome commonly seen, and why?

Answer 5

Common cause of hypogonadism seen in infertility work-up

Question 6

What are 2 physiological abnormalities of Klinefelter syndrome, and what effects do they have?

Answer 6

(1) Dysgenesis of semniferous tubules => decrease inhibin => increase FSH (2) Abnormal Leydig cell function => decrease testosterone => increase LH => increase estrogen

Question 7

What gender are patients with Turner syndrome? What is the makeup of their sex chromosomes?

Answer 7

Turner syndrome [female] (XO); Think: “‘Hugs and kisses’ (XO) from tina Turner”

Question 8

What are 7 signs/symptoms associated with Turner syndrome?

Answer 8

(1) Short stature (if untreated), (2) Ovarian dysgenesis (streak ovary), (3) Shield chest, (4) Bicuspid aortic valve, (5) Preductal coarctation (femoral < brachial pulse, notched ribs), (6) Lymphatic defects (result in webbed neck or cystic hygroma; lymphedema in feets, hands), (7) Horseshoe kidney

Question 9

What physical abnormality may occur if Turner syndrome are left untreated?

Answer 9

Short stature (if untreated)

Question 10

What abnormality may femoral < brachial pulse and notched ribs indicated in a Turner syndrome patient?

Answer 10

Preductal coarctation (femoral < brachial pulse, notched ribs)

Question 11

What are 3 results of lymphatic defects in Turner syndrome patients?

Answer 11

Lymphatic defects (result in webbed neck or cystic hygroma; lymphedema in feets, hands)

Question 12

What is the most common cause of primary amenorrhea?

Answer 12

Turner syndrome [female] (XO)

Question 13

Do Turner syndrome (XO) patients have a Barr body?

Answer 13

NO Barr body.

Question 14

What unusual sequence of reproductive events seem to occur in Turner syndrome patients?

Answer 14

Menopause before menarche

Question 15

What are the hormone levels/changes in Turner syndrome patients?

Answer 15

Decreased estrogen leads to high LH, FSH.

Question 16

What type(s) of error lead to Turner syndrome?

Answer 16

Can result from mitotic or meiotic error

Question 17

What are 2 forms of Turner syndrome, and what is the chromosomal makeup of each?

Answer 17

Can be complete monosomy (45, XO) or mosaicism (e.g., 45, XO/46, XX)

Question 18

Is pregnancy possible in Turner syndrome patients? Why/How or why/how not?

Answer 18

Pregnancy is possible in some cases (oocyte donation, exogenous estradiol-17Beta and progesterone)

Question 19

What is the incidence of double Y males [male] (XYY)?

Answer 19

1:1000

Question 20

What are 4 physical/behavioral characteristics that describe double Y males?

Answer 20

(1) Phenotypically normal (2) Very tall (3) Severe acne (4) Antisocial behavior (seen in 1-2% of XYY males)

Question 21

What is a behavioral characteristic associated with double Y males? In what percentage of XYY males is it seen?

Answer 21

Antisocial behavior (seen in 1-2% of XYY males)

Question 22

Describe the fertility of XYY males.

Answer 22

Normal fertility

Question 23

With what kind of disorders are a small percentage of XYY males diagnosed?

Answer 23

Small percentage diagnosed with autism spectrum disorders

Question 24

What are 2 possible options of the chromosomal makeup of patients with true hermaphroditism?

Answer 24

True hermaphroditism (46, XX or 47, XXY)

Question 25

What is another name for True hermaphroditism?

Answer 25

Also called ovotesticular disorder of sex development

Question 26

Describe the reproductive tissue and genitalia in True hermaphroditism.

Answer 26

Both ovary and testicular tissue present (ovotestis); ambiguous genitalia.

Question 27

In general, how common is true hermaphroditism?

Answer 27

Very rare

Question 28

What is the most likely diagnosis of a disorder with high testosterone and high LH?

Answer 28

Defective androgen receptor

Question 29

What are 2 likely diagnoses of a disorder with high testosterone and low LH?

Answer 29

Testosterone-secreting tumor, exogenous steroids

Question 30

What is the most likely diagnosis of a disorder with low testosterone and high LH?

Answer 30

Primary hypogonadism

Question 31

What is the most likely diagnosis of a disorder with low testosterone and low LH?

Answer 31

Hypogonadotropic hypogonadism

Question 32

Give 3 examples of terms that describe other disorders of sex development (besides those corresponding with actual sex chromosomal changes). What defines such disorders?

Answer 32

Include terms pseudohermaphrodite, hermaphrodite, and intersex; Disagreement between the phenotypic (external genitalia) and gonadal (testes vs. ovaries) sex.

Question 33

What defines female pseudohermaphrodite? What is its sex chromosome makeup?

Answer 33

Ovaries present, but external genitalia are virilized or ambiguous; Female pseudohermaphroditism (XX)

Question 34

What causes female pseudohermaphrodite? Give 2 examples of this.

Answer 34

Due to excessive and inappropriate exposure to androgenic steroids during early gestation (e.g., congenital adrenal hyperplasia or exogenous administration of androgens during pregnancy).

Question 35

What defines male pseudohermaphrodite? What is its sex chromosome makeup?

Answer 35

Testes present, but external genitalia are female or ambiguous; Male pseudohermaphroditism (XY)

Question 36

What is the most common form of Male pseudohermaphroditism?

Answer 36

Androgen insensitivity syndrome (testicular feminization)

Question 37

What inability defines aromatase deficiency?

Answer 37

Inability to synthesize estrogens from androgens

Question 38

What physical and hormonal findings characterize aromatase deficiency?

Answer 38

Masculinization of female (46, XX) infants (ambiguous genitalia), and increased serum testosterone and androstenedione

Question 39

How can aromatase deficiency present during pregnancy, and why?

Answer 39

Can present with maternal virilization during pregnancy (fetal androgens cross the placenta).

Question 40

What defect and appearance defines androgen insensitivity syndrome? What is the sex chromosome makeup in these patients?

Answer 40

Defect in androgen receptor resulting in normal-appearing female; Androgen insensitivity syndrome (46, XY)

Question 41

Describe the physical findings of androgen insensitivity syndrome (46, XY).

Answer 41

Female external genitalia with rudimentary vagina; uterus and fallopian tubes generally absent; presents with scant sexual hair; develops testes (often found in labia majora; surgically removed to prevent malignancy)

Question 42

Where are the testes in patients with androgen insensitivity syndrome (46, XY) often found? What is clinically done to them, and why?

Answer 42

Develops testes (often found in labia majora; surgically removed to prevent malignancy)

Question 43

What are the hormone levels/changes in androgen insensitivity syndrome (46, XY)?

Answer 43

Increased testosterone, estrogen, LH (vs. sex chromosome disorders)

Question 44

What is the mode of inheritance of 5-alpha reductase deficiency? What patient population is affected?

Answer 44

Autosomal recessive; sex limited to genetic males (46, XY)

Question 45

What is the inability that defines 5-alpha reductase deficiency?

Answer 45

Inability to convert testosterone to DHT

Question 46

What physical findings characterize 5-alpha reductase deficiency? How do they change over time, when, and why?

Answer 46

Ambiguous genitalia until puberty, when increased testosterone causes masculinization/increased growth of external genitalia; Internal genitalia are normal

Question 47

What are the hormone levels/changes in 5-alpha reductase deficiency?

Answer 47

Testosterone/estrogen levels are normal; LH is normal or increased.

Question 48

What characterizes puberty in Kallmann syndrome patients?

Answer 48

Failure to complete puberty

Question 49

Of what condition is Kallmann syndrome a form?

Answer 49

A form of hypogonadotropic hypogonadism

Question 50

What defect defines Kallmann syndrome?

Answer 50

Defective migration of GnRH cells and formation of olfactory bulb

Question 51

Again, what is the defect in Kallmann syndrome? What hormonal effects are associated with Kallmann syndrome, and what major symptoms does this cause?

Answer 51

Defective migration of GnRH cells and formation of olfactory bulb; Decreased synthesis of GnRH in hypothalamus; Anosmia; Decreased GnRH, FSH, LH, testosterone, and infertility (low sperm count in males; amenorrhea in females)