Endocrine Flashcards

1
Q

What causes congenital adrenal hyperplasia?

A

21 hydroxylase deficiency prevent formation of mineralocorticoids and glucocorticoids

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

What does 21 hydroxylase deficiency cause?

A

Dysfunctional salt and glucose balance
Unused steroid precursors become excess sex steroids
Lack of negative feedback control on CRH/ACTH leads to hyperplasia

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

What is the presentation of congenital adrenal hyperplasia?

A
Severe= neonata salt losing crisis, ambiguous genitalia 
Boys= pseudo-precocious puberty
Girls= hirsutism
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What are the types of adrenal insufficiency?

A
Primary= autoimmune= Addison's 
Secondary= inadequate ACTH due to pituitary
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What is the presentation of adrenal insufficiency in babies?

A

Lethargy
Poor feeding, hypoglycaemia, vomiting
Jaundice
Failure to thrive

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

What is the presentation of adrenal insufficiency in older children?

A
N&V 
Poor weight gain
Abdo pain
Muscle weakness/cramps
Developmental delay/poor academic performance 
Bronze hyper pigmentation
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What investigations are done for adrenal insufficiency?

A

U&Es, glucose
Cortisol, ACTH, aldosterone, renin
Short synacthen test

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

What is the management of adrenal insufficiency?

A

Hydrocortisone and fludrocortisone

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

What is a complication of Addison’s?

A

Addisonian crisis

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

What can trigger an Addisonian crisis?

A

Infection
Traua
Acute illness

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

What is the presentation of an Addisonian crisis?

A

Reduced conciousness
Hypotension
Hypoglycaemia, hyponatraemia
Hypercalcaemia

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

What is the management of an Addisonian crisis?

A

IV hydrocortisone
IV fluids
Correct glucose and electrolytes

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

What can cause congenital hypothyroid?

A

Dysgenesis

Dyshormogenesis

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

How is congenital hypothyroid caught?

A

Newborn screening

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

What is the normal growth pattern in girls?

A

Grow fast at start of puberty and slow down when breast development matures
Close to final height when period starts

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

What is the normal growth pattern in boys?

A

Grow slowly at the start of puberty and accelerate mid puberty
Further growth after pubertal development

17
Q

What causes gigantism?

A

Excess growth hormone before epiphyseal plates fuse

18
Q

What is the usual; cause of gigantism?

A

Pituitary adenoma

19
Q

What is the presentation of gigantism?

A

7-9ft tall
Delay in puberty
Prominent facial features

20
Q

What investigations are done for gigantism?

A

Growth hormone
IGF1- insulin like growth factor 1
CT/MRI

21
Q

What is the management of gigantism?

A

Manage cause e.g. remove tumour
GH receptor antagonist
Somatostatin analogue
Dopamine receptor agonist

22
Q

What are common causes of short stature?

A

Familial
Constitutional
Pathological

23
Q

What can cause a constitutional short stature?

A

Delay of growth

Later puberty

24
Q

What can cause a pathological short stature?

A
MAlnutritional
Chronic illness
Iatrogenic
Psych and social
Syndromes
Hormonal
25
Q

What are some syndromes that can cause short stature?

A

Turner
Noonan
Achrondroplasia

26
Q

What hormone problems can cause short stature?

A

Growth hormone deficiency

Hypothyroid

27
Q

What is the presentation of growth hormone deficiency?

A
Poor growth starting from 2-3 years
Neonatal- hypoglycaemia, prolonged jaundice, micropenis 
Excess subcut fat
Mild face hypoplasia
Delayed skeletal maturation
28
Q

What investigations are done for short stature?

A

FBC and ferritin, U&E, LFTs,TFTs, Ca, CRP
Coeliac serology and IgA
prolactin, cortisol, IGF-1

29
Q

What is early puberty?

A

Boys <9yo- rare and usually organic

Girls <8yo- common and normally idiopathic/familial

30
Q

What are some pathological causes of early puberty?

A

Central precocious puberty

Precocious pseudo puberty

31
Q

What is central precocious puberty?

A

Pubertal development, growth spurt and advanced bone age

Gonadotrophin dependent- high FSH and LH

32
Q

What is pseudoprecocious puberty?

A

Gonadotrophin independent abnormal sex steroid secretion

33
Q

What os delayed puberty?

A

Boys >14= common

Girls >13= rare

34
Q

What can cause delayed puberty?

A

Constitutional delay of growth and puberty- usually in boys with FH
Gonadal dysgenesis
Chronic disease
Peripheral causes- cryptorchidism, testicular radiation
Impaired hypothalami-pituitary-gonadal axis