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Reproductive > reproductive pathology 1 > Flashcards

reproductive pathology 1 Flashcards

1
Q

Sex chromosome disorders - mechanism and types

A

Aneuploidy (abnormal number of chromosomes) most commonly due to meiotic nondisjunction

  1. Klinefelter syndrome 2. Turner syndrome
  2. Double Y males 4. Ovotesticular disorder of sex development
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2
Q

Klinefelter syndrome - sex and karyotype

A

male - 47, XXY

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3
Q

Klinefelter syndrome - The extra chromosome is retained because of

A
  1. nondisjunction meiosis I (maternal or paternal)
  2. nondisjunction event during meiosis II (maternal)
    - -> mosaicism possible (mitotic error)
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4
Q

Klinefelter syndrome –> presentation

A
  1. Testicular atrophy 2. eunuchoid body shape

3. Long extremities 4. gynecomastia 5. female hair distribution 6. Devopmental delay

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5
Q

Klinefelter syndrome - lab/endocrine profile - mechanism

A
  1. presence of inactivated X chromosome (Barr body)
  2. High FSH (dysgenesis of seminiferous tubuls –> low inhibin B)
  3. high estrogen (abnormal Leydig function –> low testosterone –> high LH –> upregulation of aromatase)
  4. Common cause of hypogonadism seen in infertility work-up
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6
Q

Klinefelter syndrome - high estrogen - mechanism

A

abnormal Leydig function –> low testosterone –> high LH –> upregulation of aromatase

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7
Q

MCC of amenorrhea

A

Turner

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8
Q

Turner syndrome - sex and karyotype

A

female - 45,XO

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9
Q

Turner syndrome - mechanism

A

absence of one complete or partial copy of the X chromosome in some or all the cells (mosaicism possible –> mitotic error)

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10
Q

Turner syndromes - findings/clinical characteristics (outside and in the body)

A
  1. Short stature (if untreated)
  2. ovarian dysgenesis (streak ovary)
  3. shield chest
  4. bicuspid aortic valve
  5. coartraction (femoral less than branchial pulse)
  6. Lymphatic vessels defects (a. cystic hygroma or wedded neck, b. lymphadema in feet or hands)
  7. horseshoe kidney
  8. amenorrhea (menopause before menarche)
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11
Q

Turner syndrome - urogenital system

A
  1. ovarian dysgenesis (streak ovary)

2. horseshoe kidney

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12
Q

Turner syndrome - cardiovascular

A
  1. bicuspid aortic valve
  2. coarctation aorta(femoral less than branchial pulse)
  3. Lymphatic vessels defects (a. cystic hygroma or wedded neck, b. lymphadema in feet or hands)
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13
Q

Turner syndrome - lab/endocrine profile

A
  1. no Barr body

2. low estrogen –> high LH, FSH

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14
Q

Turner syndrome - pregnancy

A

possible is some cases (IVF, exogenous estradiol-17β and progesterone) (+donation of an egg or embryo)

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15
Q

Double Y - sex and karyotype

A

males - XYY

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16
Q

Double Y - presentation

A
  1. Phenotypically normal (usually undiagnosed)
  2. very tall
  3. may be associated with severe acne
  4. may be associated with learning disability and autism spectrum disorders
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17
Q

Double Y - may associated with

A
  1. severe acne
  2. learning disability
  3. autism spectrum disorders
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18
Q

double Y - fertility

A

normal

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19
Q

Ovotesticular disorder of sex development - previously called

A

true hermaphroditism

20
Q

Ovotesticular disorder of sex development (true hermaphroditism) - karyotype

A

46,XX > 46,XY

21
Q

Ovotesticular disorder of sex development (true hermaphroditism) - manifestation

A
  1. both ovarian and testicular tissue presents (ovotestis)

2. ambiguous genitalia

22
Q

Diagnosing disorders of sex hormones - high testosterone, high LH - diagnosis

A

defective androgen receptor

23
Q

Diagnosing disorders of sex hormones - high testosterone, low LH - diagnosis

A
  1. testosterone-secreting tumor

2. exogenous steroids

24
Q

Diagnosing disorders of sex hormones - low testosterone, high LH - diagnosis

A

1ry hypogonadism

25
Q

Diagnosing disorders of sex hormones - low testosterone, low LH - diagnosis

A

hypognodotropic hypogonadism

26
Q

Diagnosing disorders of sex hormones - testosterone/LH levels according to disease

A
  1. defective androgen receptor –> both high
  2. testosterone-secreting tumor –> high T, low LH
  3. 1ry hypogonadism –> low T, high LH
  4. hypognodotropic hypogonadism –> both low
  5. exogenous steroids –> high T, low LH
27
Q

other disorders of sex development (not chromosomal) - other terms

A
  1. pseudohermaphrodite
  2. hermaphrodite
  3. intersex
28
Q

other disorders of sex development (no chromosome) - types (and presentations)

A
  1. 46, XX DSD –> ovaries present, but external genitalia are virilized ambiguous
  2. 46, XY DSD –> testes presents, but external genitalia are female or ambiguous
29
Q

46, XY DSD - presentation

A

testes presents, but external genitalia are female or ambigiguous

30
Q

46, XY DSD - mechanism

A

Most common form is androgen insensitivity syndrome (Testicular feminization)

31
Q

46, XX DSD - presentation

A

ovaries present, but external genitalia are virilized ambiguous

32
Q

46, XX DSD - mechanism

A

due to excessive and iapproriate exposure to androgenic steroids during early gestation (eg. congenital hyperplasia or exogenous administration)

33
Q

Placental aromatase deficiency - mechanism

A

Inability to synthesize estrogens from androgens

34
Q

Placental aromatase deficiency - presentation

A
  1. masculinization of female (46, XX) infants (ambigious genitalia)
  2. can present with maternal virilozation during pregnancy (fetal androgens cross the placenta)
35
Q

Placental aromatase deficiency - lab

A

high serum testosterone and androstenedione

36
Q

Androgen insensitivity syndrome - karyotype/mechanism

A

46,XY

Defect in androgen receptor resulting in normal-appearing female

37
Q

Androgen insensitivity syndrome - presentation

A
  1. normal-appearing female external genitalia with scant sexual hair, rudimentary vagina
  2. uterus and fallopian tubes absent
  3. normal functioning testes (found in labia majora)
38
Q

Androgen insensitivity syndrome - testes

A

normal functioning testes (found in labia majora) –> surgically removed to prevent malignancy

39
Q

Androgen insensitivity syndrome vs sex chromosomal disorders

A

Androgen insensitivity syndrome –> high LH Testosterone, and estrogen

40
Q

5a-reductaes deficiency - mode of inheritance/limited to/mechanism

A

AR
limited to genetic males
inability to convert Testosterone to DHT

41
Q

5a-reductaes deficiency - presentation

A

ambigious genitalia until puberty, when high testosterone causes masculinization and increased growth of external genitalia
normal internal genitalia

42
Q

5a-reductaes deficiency - endocrine profile

A
  • normal testosterone and estrogen levels
  • Testosteron/DHT = 20-60
  • high/normal LH
43
Q

a form of hypogonadotrpic hypogonadism

A

Kallmann syndrome

44
Q

Kallmann syndrome - mechanism

A

defective migration of GnRH cells and formation of oflactory bulb –> failure to complete puberty –> low synthesis of GnRH –> a form of hypogonadotrpic hypogonadism

45
Q

Kallmann syndrome - presentation/findings/endocrine profile

A
  1. anosmia
  2. Low GnRH/FSH/LH/testosterone
  3. infertility
46
Q

Kallmann syndrome - infertility - maechanism

A
  1. low sperm cound in males

2. amenorrhea in females

Reproductive (20 decks)

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