Endocrine Flashcards

1
Q

What are the two types of cell surface receptors?

A

tyrosine kinase
G-protein coupled

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

Which hormones are hydrophilic and which are lipid soluable?

A

hydrophilic- insulin, catecholamines, pituitary hormones
lipid- thyroid, steroid

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

what hormones bind to tyrosine kinase cell receptors?

A

insulin, insulin-like growth factor-1, epidermal growth factor, fibroblast and platelet-derived growth factor)

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

What glucose test results suggest diabetes?

A

A random or two hour glucose test > 11mmol/L
A fasting glucose >7 mmol/L

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

What to do if uncertainty around T1 or T2 diabetes?

A

formal oral glucose tolerance test with measurement ofinsulin and c eptide. High concentrations of insulin and c-peptide on baseline and two hour blood samples would indicate the presence of T2D.

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

What antibody titres are raised in T1DM?

A

glutemate decarboxylase

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

What is T1 DM? and when do symptoms emerge?

A

T cell-mediated autoimmune damage to pancreatic β-cells
After destruction of > 90% of β-cells

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

What HLA types are associated with T1dM?

A

DQA, DQB and DRB

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

When can’t you used hbA1c monitoring for diabetes? what use instead?

A

haemaglobinopathies
continuous glucose monitoring or fructosamine

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

How does metformin work?

A

suppresses hepatic gluconeogenesis.

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

How do sulfonylureas work?

A

bind to the potassium channel on the pancreatic β-cell, precipitating membrane depolarization, calcium influx and insulin release

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

What are patients with T2DM linked with developing

A

polycystic ovaries

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

What is MODY?

A

maturity-onset diabetes of the young
ususally mild mutation in transcription facors in beta cells of pancreas casuing varying insulin release but it still works

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

characterise MODY

A

mild asymptomatic hyperglycaemia in non-obese children, often with a strong autosomal dominant family history of ‘diabetes’ associated with low or non-existent risks of complications

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

hypoglycaemia + hepatosplenomegaly suggests what?

A

Glycogen storage disorder

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

hypoglycaemia + tall stature and excess weight suggests what?

A

hyperinsulinism

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

hypoglycaemia + optic atrophy suggests what?

A

septo-optic dysplasia

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

hypoglycaemia + Cranial midline defects, short stature, microgenitalia suggest what?

A

Pituitary disorder

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

hypoglycaemia + Increased skin/ buccal pigmentation and hypotension

A

Addison’s disease

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

hypoglycaemia + Abnormal ear-lobe creases, macroglossia, umbilical hernia, hemihypertrophy suggests what?

A

Beckwith-Wiedemann syndrome

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

What are genes commonly implicated in congenital hyperisnulinism?

A

sulphonylurea receptor (ABCC8) and associated potassium inward rectifying channel (KCNJ11).

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

What is the treatment for congeital hyperinsulinism?

A

chlorothiazide and diazoxide-induces hyperpolarization, decreased calcium influx and reduced insulin secretion.
somatostatin analogue may be used to exert a direct receptor-mediated inhibition of insulin release.

23
Q

What types of cells produce calcitonin?

A

parafollicular cells in the thyroid

24
Q

Where is most T3 produced?

A

converted from T4 by Type II deiodinase in peripheral tissues

25
What antibody is present in graves/ hashimoto's thyroiditis?
Thyroid peroxidase
26
What antibody is present in excess in graves disease?
TSH receptor antibodies (TRAb)
27
What does raised plasma calcitonin suggest in the context of thyroid lump?
Medullary thyroid cancer
28
Describe Activating mutation of the TSH receptor gene
A.D. TSH low but T4+ T3 high. need surgical correction
29
What are the normal values for fasting serum adn urine osmolality?
Serum osmolality of 275–295 mOsmol/kg Urine osmolality > 850 mOsmol/kg
30
What are the values of fasting serum and urine osmolality in Diabetes insipidus?
Inappropriately diluted urine. i.e. hyper osmolar blood- Serum osmolality >290mOsmol/Kg but inappropriately dilute urine urine osmolaity < 750 mosmol/kg
31
What is the treatment for diabetes insipidus; cranial and nephrogenic?
Cranial- desmopression, give cautiously! Nephrogenic - Thiazuide diuretic to inc salt excretion in urine
32
Define Cranial Diabetes insipidus + nephrogenic diabetes insipidus
cranial - insufficient production of ADH nephrogenic- renal irresponsive to ADH
33
What are the causes of Renal Diabetes Insipidus
Commonest is X-linked condition a/w polydipsia, polyuria and hypernatraemia
34
What is vasopressin also known as, and where is it produced?
Antidiuretic hormone (ADH) Posterior pituitary
35
Describe SIADH
Inappropriate ADH secretion causing inappropriate retention of fluid. Therefore hyponatraemia and hypervolaemia
36
What are the symptoms of SIADH?
May be mild, (restless, fatigue weakness) if NA+ >125 If <125 headache, vomiting reduced level of consciousness, seizures and death
37
What drugs can cause SIADH?
Carbamezapine, cyclophosphomide, sodium valproate
38
What is the treatment for SIADH?
Treat underlying condition inc sodium by no more than 8mmol/l in 24h
39
what hormones are produced in the anterior pituitary?
Prolactin FSH, LH Thyroid stimulating horomone, Growth Hormone Adrenocorticotrophic hormone (ACTH)
40
What congenital condition is characterised by significant hypothalamic-pitutiary issues, featuring short growth and obesity from 2 years of age
Prader-Willi Syndrome
41
What are the lab findings of pseudohypoparathyroidism?
Low Ca2+, high Po4-, high PTH
42
What physiological sign is pathagnomic for primary adrenal insufficiency?
Increased generalised pigmentation of the skin, especially parts of the body which are not exposed to the sun
43
How do neonates present with adrenal insufficiency?
2-3 weeks of life. Poor weight gain, vomiting , increased pigmentisation, virilised females
44
What enzyme deficiency commonly causes CAH?
21-hydroxylase deficiency
45
What are the laboratory features of an adrenal crisis?
Low Na+ , High K+, Low Ca2+, low glucose metabolic acidosis Low aldosterone, low cortisol
46
What is the test for CAH?
17alpha-hydroxyprogesterone levels +/- karyotyping if ambiguous genitalia
47
What is addison's disease and how does it present?
Autoimmune destruction of adrenal cortex Adrenal insufficiency + increased pigmentation
48
What is the test for Addison's diease?
Short Synacthen test. Low cortisol despite ACTH stimulation.
49
How is an addisonian/ adrenal crisis treated?
Hydrocrotisone IV, Fluid resucitation with 0.9% saline and 10 % dextrose
50
What are the inital investigation done to confirm hypercortisolism?
24 hour urinary free cortisol excretion- pos if high serum cortisol circadian rhythm study (0900 h, 1800 h and midnight when asleep) - pos no change with circadian rythm overnight dexamethasone suppression test with 1 mg dexamethasone- pos if not suppressed
51
What is commonest form of CAH?
21-hydroxylase deficiency
52
hypertension and hyperkalaemia and ambiguous genitalia suggest what?
11-beta-hydroxylase deficiency CAH with normal genitalia it would have been Conns
53
delayed puberty and hypertension suggests what
17-alpha-hydroxylase deficiency