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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

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2
Q

What are the three types of CAH

A
  1. 21b-OH
  2. 17a-OH
  3. 11b-OH
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3
Q

What parts of adrenal cortex produces aldosterone

A

Zonal glomerulosa

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4
Q

What part of the adrenal cortex produces glucocorticoids

A

Zona fasiculata

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5
Q

What part of adrenal cortex produces androgens

A

Zona reticularis

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6
Q

What hormones does 21b-OH deficiency decrease production of

A

Glucocorticoids

Mineralocorticoids

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7
Q

What does decrease in glucocorticoids result in

A

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

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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

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9
Q

What symptoms does extra androgens cause

A

virillisation

precocious puberty

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10
Q

What does absence glucocorticoids cause

A

hypoglycaemia

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11
Q

What does absence of mineralocorticoids cause

A

hyponatraemia

hyperkalaemia

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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

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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.

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14
Q

What are predominant symptoms for 21b-OH

A

Hypotension
Hypoglycaemia
Virilisation, precocious puberty

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15
Q

What are predominant symptoms for 11b-OH

A

HTN
Hypoglycaemia
Virilisation, precocious puberty

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16
Q

What are predominant symptoms for 17a-OH

A

Hypoglycaemia
HTN
Delayed puberty

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17
Q

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

A

Pseudohermaphroditeism
Clitaromegaly
Virillisation
Preoccocioys puberty

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18
Q

what is used to replace cortisone in all congenital adrenal hypoplasia

A

glucocorticoids

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19
Q

what is used to replace aldosterone in 21b-OH

A

fludrocortisone

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20
Q

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

A

spironolactone

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21
Q

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

A

oestrogen

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22
Q

What is the chromosomal defect in Klinefelter syndrome

A

XXXY

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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
What cardiac condition is associated with klinfelter syndrome
Mitral valve prolapse
26
How is Klinefelter managed
Testosterone
27
What does Klinefelter syndrome cause
Testicular genesis
28
What is the chromosomal abnormalities in turner's syndrome
45X0
29
What does turner's syndrome cause
Ovarian dysgenesis
30
How will Turner's syndrome present in neonate period and why
Lymphedema = due to immature maturation of lymphatic system
31
What are symptoms of tuner's syndrome
- Short-stature - Webbed neck - Short 4th metacarpal - Shield chest - High-arch palate - Gonadal dysgenesis - streaky ovaries - Primary amenorrhoea - Infetiity
32
What type of ovaries are present in turner's syndrome
Streak ovaries
33
What is turner's syndrome a type of
Hypogonadotrophic hypogonadism
34
How is turner's syndrome managed
Oestrogen
35
What is the inheritance pattern of androgen insensitivity syndrome
X-linked recessive
36
If a person has complete androgen sensitivity what phenotype will they be
Female
37
What genitalia will someone with complete androgen insensitivity have
Blind-end vaginal pouch
38
What are symptoms of androgen insensitivity
Infertility | Primary amenorrhoea
39
What genitalia will someone with partial androgen insensitivity have
Male
40
How may neonates with partial androgen insensitivity present
Undescended testes
41
What genitalia is present in androgen insensitivity
vagina and testes, no uterus
42
Explain hormonal changes in androgen insensitivity
high LH, testosterone and oestrogen
43
What is the inheritance pattern of 5a reductase deficiency
Autosoma recessive
44
What does a deficiency in 5a reductase mean
That males can not covert testosterone to more potent form dihydrotestosterone
45
How will males with 5a reductase deficiency present
- Ambiguous genitalia | - At puberty will develop male genitalia
46
What is the phenotype of female pesudohemaophroditism
Male
47
Explain female pseudohemaophroditism
Despite ovaries, external genitlalia is virillised
48
What can cause female pseudohemaophroditism
Secondary CAH
49
What is pesudohemaphroditism
Primary sexual characteristics of one gender. Secondary sexual characteristics of another
50
Explain gender alignment in ambiguous genitlia
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
When is surgery for ambiguous genitalia usually delayed until
Adolescence
52
What act regulates gender
Gender recognition act (2004)
53
What does gender regulation act (2004) enable
Individual with gender dysphoria to change their legal gender
54
What is gender recognition certificate (GRC)
document shows a person has satisfied criteria for legal recognition of gender
55
What is gender dysphoria
Individual feels disparity between gender identity and sex at birth
56
Explain gender development at birth
- 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)

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