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FA - Reproductive > Repro - Pathology (Sex disorders) > Flashcards

Repro - Pathology (Sex disorders) Flashcards

Pg. 574-575 in First Aid 2014 Sections include: -Sex chromosome disorders of sexual development -Diagnosing disorders of sex hormones -Other disorders of sex development -Aromatase deficiency -Androgen insensitivity syndrome (46, XY) -5alpha-reductase deficiency -Kallmann syndrome

1
Q

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

A

Klinefelter syndrome [male] (XXY)

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2
Q

What is the incidence of Klinefelter syndrome?

A

1:850

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3
Q

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

A

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

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4
Q

What chromosomal finding is present in Klinefelter syndrome?

A

Presence of inactivated X chromosome (Barr body).

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5
Q

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

A

Common cause of hypogonadism seen in infertility work-up

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6
Q

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

A

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

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7
Q

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

A

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

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8
Q

What are 7 signs/symptoms associated with Turner syndrome?

A

(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

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9
Q

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

A

Short stature (if untreated)

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10
Q

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

A

Preductal coarctation (femoral < brachial pulse, notched ribs)

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11
Q

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

A

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

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12
Q

What is the most common cause of primary amenorrhea?

A

Turner syndrome [female] (XO)

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13
Q

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

A

NO Barr body.

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14
Q

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

A

Menopause before menarche

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15
Q

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

A

Decreased estrogen leads to high LH, FSH.

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16
Q

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

A

Can result from mitotic or meiotic error

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17
Q

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

A

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

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18
Q

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

A

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

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19
Q

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

A

1:1000

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20
Q

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

A

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

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21
Q

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

A

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

22
Q

Describe the fertility of XYY males.

A

Normal fertility

23
Q

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

A

Small percentage diagnosed with autism spectrum disorders

24
Q

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

A

True hermaphroditism (46, XX or 47, XXY)

25
Q

What is another name for True hermaphroditism?

A

Also called ovotesticular disorder of sex development

26
Q

Describe the reproductive tissue and genitalia in True hermaphroditism.

A

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

27
Q

In general, how common is true hermaphroditism?

A

Very rare

28
Q

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

A

Defective androgen receptor

29
Q

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

A

Testosterone-secreting tumor, exogenous steroids

30
Q

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

A

Primary hypogonadism

31
Q

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

A

Hypogonadotropic hypogonadism

32
Q

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

A

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

33
Q

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

A

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

34
Q

What causes female pseudohermaphrodite? Give 2 examples of this.

A

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

35
Q

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

A

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

36
Q

What is the most common form of Male pseudohermaphroditism?

A

Androgen insensitivity syndrome (testicular feminization)

37
Q

What inability defines aromatase deficiency?

A

Inability to synthesize estrogens from androgens

38
Q

What physical and hormonal findings characterize aromatase deficiency?

A

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

39
Q

How can aromatase deficiency present during pregnancy, and why?

A

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

40
Q

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

A

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

41
Q

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

A

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)

42
Q

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

A

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

43
Q

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

A

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

44
Q

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

A

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

45
Q

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

A

Inability to convert testosterone to DHT

46
Q

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

A

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

47
Q

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

A

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

48
Q

What characterizes puberty in Kallmann syndrome patients?

A

Failure to complete puberty

49
Q

Of what condition is Kallmann syndrome a form?

A

A form of hypogonadotropic hypogonadism

50
Q

What defect defines Kallmann syndrome?

A

Defective migration of GnRH cells and formation of olfactory bulb

51
Q

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

A

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)

FA - Reproductive (18 decks)

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