High Yield Intro Flashcards

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1
Q

What does hair growth suggest?

A

Presence of testosterone

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2
Q

What does the presence of breast tissue suggest?

A

Estrogen is present

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3
Q

What hormone is not produced in Kallmann syndrome?

A

GnRH from the hypothalamus

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4
Q

How does Kallman syndrome usually present?

A
  • Anosmia

- Delayed/absent puberty in male or female

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5
Q

What are the 2 cardiovascular pathologies associated with Turner’s syndrome?

A
  • Coarctation of the aorta

- Bicuspid aortic valve

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6
Q

What kind of valve disease does a bicuspid aortic valve cause?

A

Aortic stenosis

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7
Q

What cardiac abnormalities are associated with Down’s syndrome?

A
  • Endocardial cushion defects (regurgitation of AV valves)

- Ostium primum ASD

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8
Q

What cardiac abnormality are associated with DiGeorge syndrome?

A

Conotruncal abnormalities

- Tetralogy of Fallot (overriding aorta, Pulmonary stenosis, RV Hypertrophy, R->L shunting VSD)

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9
Q

What cardiovascular abnormalities are associated with Marfan’s syndrome?

A
  • Cystic medial necrosis -> aortic dissection

- Mitral valve prolapse

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10
Q

What cardiovascular disease is associated with Tuberous sclerosis?

A

Cardiac rhabdomyoma (ball-valve + low grade fever)

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11
Q

What type of cardiovascular disease is associated with Friedreich Ataxia?

A

Hypertrophic cardiomyopathy

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12
Q

What is the cause of Turner’s syndrome?

A
  • Chromosomal non-disjunction -> chromosomal monosomy -> poor ovarian development (high FSH/LH)
  • 45XO or 46XX (mosaicism)
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13
Q

What is the short habitus due to in Turner’s syndrome?

A

Poor SHOX

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14
Q

What will the ovaries look like in Turner’s syndrome?

A

Streak ovaries

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15
Q

What will the level of FSH and LH be like in Turner’s and Klinefelter’s syndrome?

A

High

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16
Q

What are the phenotypical features of Klienefelter’s syndrome?

A
  • Testicular atrophy
  • Reduced body hair
  • Gynecomastia
  • Poor neurocognitive function
  • Tall habitus -> growth plate closure is delayed
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17
Q

What is the cause of Klinefelter’s?

A
  • Non-dysjunction -> 47 XXY (presence of Barr Body)
  • Seminiferous tubule dysgenesis (high FSH/LH)
  • Primary hypoganadism
  • Low T
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18
Q

What is cryptorchidism?

A

a condition in which one or both of the testes fail to descend from the abdomen into the scrotum.

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19
Q

What converts testosterone to estradiol?

A

Aromatase

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20
Q

What are the signs of placental aromatase deficiency?

A
  • Masculisation of female infants (46XX DSD)
  • Ambiguous genitalia
  • Increase in testosterone and androstenedione
  • Virilization of mother
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21
Q

What is virilization?

A

Condition in which a female develops characteristics associated with male hormones (androgens)

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22
Q

What does aromatase convert testosterone to in the fat cells?

A

Estrone

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23
Q

What does aromatase convert testosterone into in the placenta?`

A

Estriol

24
Q

What is the active form of testosterone?

A

5-DHT (dihydrotestosterone)

25
Q

What does 5-DHT do?

A
  • Enlarges penis and prostate

- Contributes towards male pattern baldness

26
Q

Name an inhibitor of aromatase?

A

Anastrazole

- Blocks conversion of testosterone into estradiol

27
Q

Name a 5-alpha reductase inhibitor?

A

Finasteride

- Blocks conversion of testosterone into DHT

28
Q

Name a DHT blocker?

A

Flutamide

29
Q

What are the signs of Mullerian Agenesis?

A
  • Primary amenorrhea (XX) with fully developed secondary sex characteristics (presence of testosterone and estrogen)
  • Short, blind-ending vagina
30
Q

What are the Mullerian derivatives?

A
  • Fallopian tubes
  • Uterus
  • Cervix
  • Upper 1/3 of Vagina (blind ending vagina in Mullerian agenesis)
31
Q

What embryological structure gives rise to the lower 2/3s of the vagina?

A

Lower 2/3 urogenital sinus

32
Q

What is seen on examination / presentation in individuals with androgen insensitivity syndrome?

A
  • Breast engorgement (presence of estrogen)
  • No pubic hair (no T)
  • Blind ended vaginal pouch
  • Inguinal exam will reveal bilateral smooth masses (Intra-labial testes)
  • Penotypically male, genotypically male
33
Q

What is the karyotype of individuals with androgen insensitivity syndrome?

A

46 XY

34
Q

Name some differences between Mullerian agenesis and Androgen Insensitivity syndrome
- Both have primary amenorrhea and blind ending vagina

A
  • Pubic hair present in Mullerian, not in AIS
  • Intra-labial testes in AIS
  • Mulerian is XX; AIS is XY
35
Q

What other than anosmia is Kallman’s syndrome associated with?

A

Renal agenesis

36
Q

What happens when a follicle degenerates in PCOS?

A

Cystic dilatation

37
Q

What pituitary hormone is increased in PCOS?

A

LH

  • Stimulates Theca interna cells
  • Causes increase in Androgens -> Hirstuism
38
Q

What does adipose do in PCOS?

A

Converts T to estrone

- Decreased FSH

39
Q

What does decreased FSH in PCOS result in?

A

Granulosa cell atrophy

- Cystic dilatation of follicle

40
Q

Tyipical presentation of PCOS

A
  • Irregular menstrual cycles
  • Hirsutism
  • Acne, oily skin
  • Obesity
  • Acanthosis nigricans
  • Deepening of voice
  • Aggression
41
Q

What drugs are given to treat PCOS?

A
  • Spironalactone (anti-androgenic properties)
  • Metformin (decreases insulin resistance)
  • Clomiphene (Selective strogen receptor modulator -> causes surge of LH surge and ovulation)
  • OCP - regulates menstration
42
Q

How can a non-classical Congenital adrenal hyperplasia create a high androgen state?

A
  • Peri-pubertal increase in 17-Hydroxyprogesterone

- This will cause a downstream increase in cortisol and testosterone

43
Q

Where can you get an androgen secreting tumour?

A
  • Sertoli Leydig

- Adrenal -> high DHEA-S

44
Q

When can an individual with Cushings’s also have a high androgen state?

A
  • Primary Cushing’s disease
  • Chronic disease
  • Anabolic steroid use may lead to Cushing’s
45
Q

Use of what drug is linked to hepatocellular adenoma?

A

OCP

46
Q

What cells are stimulated by LH in females?

A

Theca interna cell

47
Q

What cells are stimulated by LH in males?

A

Leydig cells

48
Q

What does FSH stimulate in females?

A

Granulosa cells to produce estradiol through aromatase

49
Q

What do Theca cells produce and where do they go?

A

Testosterone which travels to the granulosa cells which are then stimulated by FSH to produce estradiol

50
Q

What cells produce estradiol in the female?

A

Granulosa cells

51
Q

What cells are stimulated by FSH in males?

A

Sertoli cells

52
Q

What is a tumour marker for ovarian tumours?

A

CA-125

53
Q

What is the most common ovarian tumour?

A

Surface ovarian tumour (90%)

54
Q

What does a surface ovarian tumour often present with?

A
  • Fullness
  • Early satiety
  • Abdo distension
55
Q

What is a benign tumour of the ovary called?

A

cystadenoma