High Yield Intro Flashcards

(55 cards)

1
Q

What does hair growth suggest?

A

Presence of testosterone

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What does the presence of breast tissue suggest?

A

Estrogen is present

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What hormone is not produced in Kallmann syndrome?

A

GnRH from the hypothalamus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

How does Kallman syndrome usually present?

A
  • Anosmia

- Delayed/absent puberty in male or female

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

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

A
  • Coarctation of the aorta

- Bicuspid aortic valve

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

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

A

Aortic stenosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What cardiac abnormalities are associated with Down’s syndrome?

A
  • Endocardial cushion defects (regurgitation of AV valves)

- Ostium primum ASD

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What cardiovascular abnormalities are associated with Marfan’s syndrome?

A
  • Cystic medial necrosis -> aortic dissection

- Mitral valve prolapse

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What cardiovascular disease is associated with Tuberous sclerosis?

A

Cardiac rhabdomyoma (ball-valve + low grade fever)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What type of cardiovascular disease is associated with Friedreich Ataxia?

A

Hypertrophic cardiomyopathy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

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

A

Poor SHOX

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

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

A

Streak ovaries

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

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

A

High

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What converts testosterone to estradiol?

A

Aromatase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What is virilization?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

What does aromatase convert testosterone to in the fat cells?

A

Estrone

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

What does aromatase convert testosterone into in the placenta?`

24
Q

What is the active form of testosterone?

A

5-DHT (dihydrotestosterone)

25
What does 5-DHT do?
- Enlarges penis and prostate | - Contributes towards male pattern baldness
26
Name an inhibitor of aromatase?
Anastrazole | - Blocks conversion of testosterone into estradiol
27
Name a 5-alpha reductase inhibitor?
Finasteride | - Blocks conversion of testosterone into DHT
28
Name a DHT blocker?
Flutamide
29
What are the signs of Mullerian Agenesis?
- Primary amenorrhea (XX) with fully developed secondary sex characteristics (presence of testosterone and estrogen) - Short, blind-ending vagina
30
What are the Mullerian derivatives?
- Fallopian tubes - Uterus - Cervix - Upper 1/3 of Vagina (blind ending vagina in Mullerian agenesis)
31
What embryological structure gives rise to the lower 2/3s of the vagina?
Lower 2/3 urogenital sinus
32
What is seen on examination / presentation in individuals with androgen insensitivity syndrome?
- 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
What is the karyotype of individuals with androgen insensitivity syndrome?
46 XY
34
Name some differences between Mullerian agenesis and Androgen Insensitivity syndrome - Both have primary amenorrhea and blind ending vagina
- Pubic hair present in Mullerian, not in AIS - Intra-labial testes in AIS - Mulerian is XX; AIS is XY
35
What other than anosmia is Kallman's syndrome associated with?
Renal agenesis
36
What happens when a follicle degenerates in PCOS?
Cystic dilatation
37
What pituitary hormone is increased in PCOS?
LH - Stimulates Theca interna cells - Causes increase in Androgens -> Hirstuism
38
What does adipose do in PCOS?
Converts T to estrone | - Decreased FSH
39
What does decreased FSH in PCOS result in?
Granulosa cell atrophy | - Cystic dilatation of follicle
40
Tyipical presentation of PCOS
- Irregular menstrual cycles - Hirsutism - Acne, oily skin - Obesity - Acanthosis nigricans - Deepening of voice - Aggression
41
What drugs are given to treat PCOS?
- Spironalactone (anti-androgenic properties) - Metformin (decreases insulin resistance) - Clomiphene (Selective strogen receptor modulator -> causes surge of LH surge and ovulation) - OCP - regulates menstration
42
How can a non-classical Congenital adrenal hyperplasia create a high androgen state?
- Peri-pubertal increase in 17-Hydroxyprogesterone | - This will cause a downstream increase in cortisol and testosterone
43
Where can you get an androgen secreting tumour?
- Sertoli Leydig | - Adrenal -> high DHEA-S
44
When can an individual with Cushings's also have a high androgen state?
- Primary Cushing's disease - Chronic disease - Anabolic steroid use may lead to Cushing's
45
Use of what drug is linked to hepatocellular adenoma?
OCP
46
What cells are stimulated by LH in females?
Theca interna cell
47
What cells are stimulated by LH in males?
Leydig cells
48
What does FSH stimulate in females?
Granulosa cells to produce estradiol through aromatase
49
What do Theca cells produce and where do they go?
Testosterone which travels to the granulosa cells which are then stimulated by FSH to produce estradiol
50
What cells produce estradiol in the female?
Granulosa cells
51
What cells are stimulated by FSH in males?
Sertoli cells
52
What is a tumour marker for ovarian tumours?
CA-125
53
What is the most common ovarian tumour?
Surface ovarian tumour (90%)
54
What does a surface ovarian tumour often present with?
- Fullness - Early satiety - Abdo distension
55
What is a benign tumour of the ovary called?
cystadenoma