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Clinical Medicine Lecture - Professor Kramer > Sex Chromosome abnormalities > Flashcards

Sex Chromosome abnormalities Flashcards

1
Q

Monosomy X ?

A

45 X

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2
Q

Turners Syndrome ?

A

45 XO

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3
Q

Klinefelter syndrome ?

A

47 XXY

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4
Q

Klinefelter syndrome characteristics ?

A

Most common sex chromosome causing hypogonadism

Tall stature
Small testes
Infertility
Noted at puberty

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5
Q

47 XYY characteristics ?

A

Tall stature

Mild delay but generally educated in mainstream schools

Normal pubertal development

Most are fertile

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6
Q

Most common sex chromosome abnormality in females ?

A

47 XXX

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7
Q

47 XXX characteristics ?

A

Tall stature, puberty and fertility normal

Premature ovarian insufficiency can occur

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8
Q

Trisomy 21 ?

A

Downs syndrome

**originates from the mom and due to increased maternal age **

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9
Q

Trisomy 18 ?

A

Edwards syndrome

  • *severe intellectual disability and usually die within first 2 weeks of life and some survive for a year
  • *
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10
Q

Trisomy 13 ?

A

Patau syndrome

** dont survive usually past the first month
absent eyes **

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11
Q

Patau syndrome triad ?

A

Micro/anophthalmia

cleft lip or palate

postaxial polydactyly

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12
Q

Cri du Chat- cat cry syndrome pathology ?

A

Partial deletion short arm of chromosome 5

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13
Q

Cri du Chat- cat cry syndrome characteristics ?

A

Low birth weight,

FTT, hypotonia, intellectual disability,

microcephaly, round face, broad nasal bridge, low set ears

**boy will have moderate disability with large head and long face and prominent forehead and chin and females will have moderate disability **

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14
Q

46, XY Karyotype: Testicular feminization pathology ?

A

Testicular feminization

Complete androgen insensitivity syndrome

X linked recessive trait

Androgen receptors absent or defective- testosterone resistance

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15
Q

46, XY Karyotype: Testicular feminization characteristics ?

A

Phenotypic females with absent uterus and upper 2/3 of vagina

Testes may be palpable in the labia or inguinal region

Produce some estrogen, will develop breasts

Surgical excision of testes – increased risk of gonadal malignancy

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16
Q 
46, XY Karyotype
Swyer syndome (gonadal dysgenesis) pathology ?
A

Lacking secretion of MIF and androgens

Testis do not develop → streak gonad

No estrogen secretion, will not develop breasts

Remove streak gonad to prevent tumor

streak gonads cause they lack development and they need to be removed because they can become CA

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17
Q

Turners Syndrome- 45 XO

variants ?

A

45 XO, XX mosaics

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18
Q

Turners Syndrome- 45 XO

what happens to the ovaries ?

A

ovaries will be replaces with fibrous tissues

mosaics may menstruate briefly

19
Q

Turners Syndrome- 45 XO characteristics ?

A

webbed neck

Coarctation of the aorta is common

NL intelligence but developmental delays

congenital lymphadema - swelling of extremities and short stature ( evident by the age of 5)
most dont undergo puberty unless hormone supplements and most cannot get pregnant

20
Q

One of the most common causes of Secondary Amenorrhea usually present with oligomenorrhea ?

A

PCOS

21
Q

PCOS diagnosis criteria ?

A

Rotterdam

22
Q

Rotterdam criteria- 2 out of the 3 following ?

A

Hyperandrogenism, clinical or biochemical

Oligo or anovulation

Polycystic ovaries by ultrasound

23
Q

Primary Amenorrhea-Uterine ?

A

Congenital anatomic lesions of uterus

24
Q

Secondary Amenorrhea-Uterine ?

A

Asherman Syndrome

25
Q

Asherman Syndrome characteristics ?

A

Only secondary uterine cause

Due to uterine scarring

Secondary to postpartum
hemorrhage, endometritis, D&C, infected products of conception

26
Q

Primary Amenorrhea-Vagina causes ?

A

Imperforate hymen

Vaginal septum

Vaginal agenesis

Mullerian agenesis 46XX karyotype

27
Q

Primary Amenorrhea-Vagina: Imperforate hymen ?

A

Menstruation efflux can not occur

Cyclic abdominal pain

Perirectal mass

28
Q

Primary Amenorrhea-Vagina: Vaginal septum ?

A

Transverse
Longitudinal
blood behind membranes

29
Q

Primary Amenorrhea-Vagina: Mullerian agenesis 46XX karyotype ?

A

Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome.

Approx. 1:5000

Congenital absence of the uterus and upper 2/3 of vagina

Normal secondary sex characteristics

May ovulate regularly

30
Q

Vanishing testis syndrome, 46 XY characteristics ?

A

Failed gonadal development

Depends on timing during embryonic development

**it depend on when the ognadal development occurs correlating to the problem you will have **

31
Q

5-alpha-reductase deficiency, 46 XY characteristics ?

A

Ambiguous genitalia or female

Puberty – develop male characteristics

**increased muscle mass and voice deepening ,
they cannot convert the testosterone **

32
Q

17-alpha-hydroxylase deficiency, 46 XX or 46 XY

characteristics ?

A

Lacking adrenal and gonadal sex steroid production

HTN due to mineralocorticoid excess

33
Q

Primary amenorrhea diagnosis ?

A

HCG

GYN exam - uterus present: PE/US

H/W/BMI/arm span

Skin: acne, striae. hirsutism

General appearance: low hairline , webbed neck

34
Q

Primary amenorrhea diagnosis: GYN exam - absent uterus ? then what do you test ?

A

Karyotype and testosterone

35
Q

Primary amenorrhea diagnosis: GYN exam - present uterus ? then what do you test ?

A

FSH

Breast Development
Tanner staging

36
Q

Secondary amenorrhea

diagnosis ?

A

HCG

TSH

prolactin

FSH & E2

Progestin challenge test ( make sure ovaries are secreting estrogen)

37
Q

Secondary amenorrhea

diagnosis: FSH normal/low, Low E2 ?

A

Hypothalamic

pituitary

systemic

38
Q

Secondary amenorrhea

diagnosis: FSH high, Low E2 ?

A

Primary ovarian insufficiency

39
Q

Secondary amenorrhea

diagnosis: FSH Low/normal, E2 normal ?

A

→ PCOS most likely

check Testosterone next

40
Q

Secondary amenorrhea

diagnosis: Progestin challenge test ?

A

+ ovaries are secreting estrogen

-Estrogen and progestin challenge test

if this is neg then you are concerned with atromens

41
Q

Amenorrhea Labs ?

A 
HCG
Pelvic US
Prolactin
TSH
FSH
E2
Testosterone
LH
42
Q

1 and 2 Amenorrhea tx ?

A

Correcting the underlying etiology :

  1. Counseling especially for primary
  2. Lifestyle changes and education
  3. Surgery may be required for anatomical lesions or gonadectomy
  4. Hormone therapy-primary ovarian insufficiency

If possible, achieve fertility

43
Q

Amenorrhea tx. complications ?

A

Estrogen therapy to prevent osteoporosis

44
Q

Amenorrhea complications ?

A

Infertility

Psychosocial developmental delays

Low estrogen can lead to severe osteoporosis and fractures

Clinical Medicine Lecture - Professor Kramer (28 decks)

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