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Flashcards in Repro - Pathology (Sex disorders) Deck (51)
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1

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

Klinefelter syndrome [male] (XXY)

2

What is the incidence of Klinefelter syndrome?

1:850

3

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

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

4

What chromosomal finding is present in Klinefelter syndrome?

Presence of inactivated X chromosome (Barr body).

5

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

Common cause of hypogonadism seen in infertility work-up

6

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

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

7

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

Turner syndrome [female] (XO); Think: "'Hugs and kisses' (XO) from tina Turner"

8

What are 7 signs/symptoms associated with Turner syndrome?

(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

9

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

Short stature (if untreated)

10

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

Preductal coarctation (femoral < brachial pulse, notched ribs)

11

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

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

12

What is the most common cause of primary amenorrhea?

Turner syndrome [female] (XO)

13

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

NO Barr body.

14

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

Menopause before menarche

15

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

Decreased estrogen leads to high LH, FSH.

16

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

Can result from mitotic or meiotic error

17

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

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

18

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

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

19

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

1:1000

20

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

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

21

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

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

22

Describe the fertility of XYY males.

Normal fertility

23

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

Small percentage diagnosed with autism spectrum disorders

24

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

True hermaphroditism (46, XX or 47, XXY)

25

What is another name for True hermaphroditism?

Also called ovotesticular disorder of sex development

26

Describe the reproductive tissue and genitalia in True hermaphroditism.

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

27

In general, how common is true hermaphroditism?

Very rare

28

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

Defective androgen receptor

29

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

Testosterone-secreting tumor, exogenous steroids

30

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

Primary hypogonadism