Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Gynaecology > 3: Pre-pubertal and congenital gynaecological disorders > Flashcards

3: Pre-pubertal and congenital gynaecological disorders Flashcards

1
Q

What is the inheritance pattern of CAH

A

Autosomal recessive

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

What are the three types of CAH

A
  1. 21b-OH
  2. 17a-OH
  3. 11b-OH
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What parts of adrenal cortex produces aldosterone

A

Zonal glomerulosa

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

What part of the adrenal cortex produces glucocorticoids

A

Zona fasiculata

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

What part of adrenal cortex produces androgens

A

Zona reticularis

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

What hormones does 21b-OH deficiency decrease production of

A

Glucocorticoids

Mineralocorticoids

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

What does decrease in glucocorticoids result in

A

Decrease in glucocorticoids. removes negative feedback. Therefore increases ACTH and pre-cursors

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What happens in 21b-OH

A

Deficiency in enzyme 21-OH causes absence glucocorticoid and mineralocorticoid. This causes shift of precursors to zona reitcularis and increase production androgens

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

What symptoms does extra androgens cause

A

virillisation

precocious puberty

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

What does absence glucocorticoids cause

A

hypoglycaemia

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

What does absence of mineralocorticoids cause

A

hyponatraemia

hyperkalaemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

what happens in 11b-OH

A

Deficiency in 11b-hydroxylase means unable to produce glucocorticoids and mineralocorticoids. However, there is build up of 11-deoxycortisone which can act at aldosterone receptors to maintain HTN

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

Explain 17-OH

A

Deficiency in 17-OH means unable to produce androgens or glucocorticoids. Pre-cursors are shunted into zone fasiculata causing production mineralocorticoids which lead to HTN.

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

What are predominant symptoms for 21b-OH

A

Hypotension
Hypoglycaemia
Virilisation, precocious puberty

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

What are predominant symptoms for 11b-OH

A

HTN
Hypoglycaemia
Virilisation, precocious puberty

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What are predominant symptoms for 17a-OH

A

Hypoglycaemia
HTN
Delayed puberty

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

In females, how may 21b and 11b-OH present

A

Pseudohermaphroditeism
Clitaromegaly
Virillisation
Preoccocioys puberty

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

what is used to replace cortisone in all congenital adrenal hypoplasia

A

glucocorticoids

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

what is used to replace aldosterone in 21b-OH

A

fludrocortisone

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

what is used to prevent HTN in 11b-OH and 17a-OH

A

spironolactone

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

What is used to treat lack of androgens in 17a-OH

A

oestrogen

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

What is the chromosomal defect in Klinefelter syndrome

A

XXXY

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

When do symptoms of Klinefelter’s syndrome manifest

A

Symptoms do not present during childhood, but manifest during puberty

24
Q

What are symptoms of klinefelters disease

A

Manifest at puberty:

  • Testicular genesis
  • Azoospermia
  • Eunoid prevention ( tall, slim, thin fingers)
  • Gynaecomastia
  • Osteoporosis
  • Mitral valve prolapse
25
Q

What cardiac condition is associated with klinfelter syndrome

A

Mitral valve prolapse

26
Q

How is Klinefelter managed

A

Testosterone

27
Q

What does Klinefelter syndrome cause

A

Testicular genesis

28
Q

What is the chromosomal abnormalities in turner’s syndrome

A

45X0

29
Q

What does turner’s syndrome cause

A

Ovarian dysgenesis

30
Q

How will Turner’s syndrome present in neonate period and why

A

Lymphedema = due to immature maturation of lymphatic system

31
Q

What are symptoms of tuner’s syndrome

A
  • Short-stature
  • Webbed neck
  • Short 4th metacarpal
  • Shield chest
  • High-arch palate
  • Gonadal dysgenesis - streaky ovaries
  • Primary amenorrhoea
  • Infetiity
32
Q

What type of ovaries are present in turner’s syndrome

A

Streak ovaries

33
Q

What is turner’s syndrome a type of

A

Hypogonadotrophic hypogonadism

34
Q

How is turner’s syndrome managed

A

Oestrogen

35
Q

What is the inheritance pattern of androgen insensitivity syndrome

A

X-linked recessive

36
Q

If a person has complete androgen sensitivity what phenotype will they be

A

Female

37
Q

What genitalia will someone with complete androgen insensitivity have

A

Blind-end vaginal pouch

38
Q

What are symptoms of androgen insensitivity

A

Infertility

Primary amenorrhoea

39
Q

What genitalia will someone with partial androgen insensitivity have

A

Male

40
Q

How may neonates with partial androgen insensitivity present

A

Undescended testes

41
Q

What genitalia is present in androgen insensitivity

A

vagina and testes, no uterus

42
Q

Explain hormonal changes in androgen insensitivity

A

high LH, testosterone and oestrogen

43
Q

What is the inheritance pattern of 5a reductase deficiency

A

Autosoma recessive

44
Q

What does a deficiency in 5a reductase mean

A

That males can not covert testosterone to more potent form dihydrotestosterone

45
Q

How will males with 5a reductase deficiency present

A
  • Ambiguous genitalia

- At puberty will develop male genitalia

46
Q

What is the phenotype of female pesudohemaophroditism

A

Male

47
Q

Explain female pseudohemaophroditism

A

Despite ovaries, external genitlalia is virillised

48
Q

What can cause female pseudohemaophroditism

A

Secondary CAH

49
Q

What is pesudohemaphroditism

A

Primary sexual characteristics of one gender. Secondary sexual characteristics of another

50
Q

Explain gender alignment in ambiguous genitlia

A

Parent’s can delay decision until decide how to rear child. This should provide best opportunity for normal puberty and sex-life when older

51
Q

When is surgery for ambiguous genitalia usually delayed until

A

Adolescence

52
Q

What act regulates gender

A

Gender recognition act (2004)

53
Q

What does gender regulation act (2004) enable

A

Individual with gender dysphoria to change their legal gender

54
Q

What is gender recognition certificate (GRC)

A

document shows a person has satisfied criteria for legal recognition of gender

55
Q

What is gender dysphoria

A

Individual feels disparity between gender identity and sex at birth

56
Q

Explain gender development at birth

A
  • Female is default phenotype
  • In males Y chromosome has SRY gene, this causes testes to develop which produce AMH causing mullein (paramesonephric duct) to regress

Gynaecology (22 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions