Endocrinology Flashcards

1
Q

Where is the inferior parathyroid derived from?

A

Third pharyngeal pouch

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2
Q

Where is the superior parathyroid derived from?

A

Fourth pharyngeal pouch

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3
Q

Most common cause of congenital adrenal hyperplasia?

A

21-hydroxylase deficiency

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4
Q

Features of 21-hydroxylase deficiency in CAH?

A

Virilisation of girls
Precocious puberty in boys

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5
Q

Features of 11-beta hydroxylase deficiency in CAH?

A

Virilisation in female genitalia
Precocious puberty in boys
Hypertension
Hypokalaemia

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6
Q

Features of 17-hydroxylase deficiency?

A

Non-virilising in females
Inter-sex in boys
Hypertension

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7
Q

What happens to the electrolytes in Cushing’s syndrome?

A

High sodium
Low potassium

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8
Q

Where is melatonin synthesised from?

A

Melatonin is synthesised in the pineal gland from serotonin

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9
Q

What is the age range for normal puberty in boys?

A

9-14 years

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10
Q

What is the age range for normal puberty in girls?

A

8-14 years

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11
Q

Outline the normal sequence of puberty in girls?

A

Breast development
Height spurt
Menarche

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12
Q

What is the normal sequence of puberty in boys?

A

Testicular growth
Enlargement of the penis
Pubic hair development
Facial hair
Height growth

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13
Q

What are the causes of advanced bone age?

A

Endocrine causes - precocious puberty, adrenal pathology (CAH, adrenocorticol tumour), intracranial lesions (astrocytoma, craniopharyngioma), Cushing’s syndrome, hyperpituitarism, hyperthyroidism

Genetic causes - Soto’s syndrome, McCune Albright, Beckwith-Wiedemann, Homocystinuria, Marshall-Smith

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14
Q

Causes of delayed bone age?

A

Constitutional growth delay
Chronic disease
Neglect
IUGR
Genetic disorders (trisomy 21, trisomy 18, Turner syndrome)
Congenital dwarfism
Endocrine (hypothyroidism, hypopituitarism, hypogonadism, Cushing disease, diabetes, Addison’s disease, hypoparathyroidism)

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15
Q

Hormone profile in Kallman’s syndrome?

A

Reduced testosterone
Reduced LH/ FSH

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16
Q

Where is PTH secreted from?

A

Chief cells in the parathyroid hormone

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17
Q

What are the actions of PTH?

A

Bone - Binds to osteoblasts which signal to osteoclasts to cause resorption of bone and release calcium

Kidney - Active reabsorption of calcium and magnesium from the distal convoluted tubule. Decreases reabsorption of phosphate

Intestine - Increases intestinal calcium absorption by increasing activated vitamin D. Activated vitamin D increases calcium absorption

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18
Q

Where is glucagon released?

A

Alpha cells in the Islet of Langerhans

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19
Q

Where is Insulin released?

A

Beta cells in the Islet of Langerhans

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20
Q

Where is Somatostatin released?

A

Delta cells in the Islet of Langerhans

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21
Q

Which hormone DECREASES prolactin secretion?

A

Dopamine

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22
Q

Which hormone INCREASES prolactin secretion?

A

Thyrotropin releasing hormone

(also pregnancy, oestrogen, breastfeeding, sleep, stress, metoclopramide, antipsychotics)

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23
Q

Congenital adrenal hypoplasia =

A

Children often present in the neonatal phase with an adrenal crisis (hyponatraemia, hyperkalaemia, hypotension, dehydration, hypoglycaemia)

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24
Q

Where is secretin released?

A

Mucosal cells in the duodenum and jejunum

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25
What are the likely blood results for adrenal insufficiency e.g. Addisons disease?
Low cortisol High renin Low sodium High potassium Hypoglycaemia Metabolic acidosis
26
Which amino acid are all catecholamines derived from?
Tyrosine
27
Where is adrenaline and noradrenaline secreted from?
The chromaffin cells of the adrenal medulla
28
What is the most common thyroid malignancy?
Papillary carcinoma
29
What is the hormone profile for PCOS?
Raised LH:FSH ratio Insulin resistance High dehydroepiandrosterone (DHEA-S) High free and total testosterone Normal oestrogen
30
Causes of hypokalaemia with hypertension?
Conn's syndrome Cushing's syndrome Liddle syndrome 11 beta hydroxyls deficiency (cause of CAH)
31
Causes of hypokalaemia without hypertension?
Diuretics GI losses Renal tubular acidosis (type 1 and 2) Bartter's syndrome Gitelman syndrome
32
Which drugs cause gynaecomastia?
Spironolactone Digoxin Cimetidine Cannabis Oestrogen Anabolic steroids Finesteride
33
What are the properties of octreotide?
Mimics somatostatin Inhibits growth hormone and insulin
34
Function of ADH?
Purely concerned with water reabsorption therefore SIADH leads to normovolaemic hyponatraemia
35
What are psammoma bodies?
Clusters of microcalcifications - typically seen in papillary carcinomas (thyroid)
36
Which two hormones are released from the posterior pituitary?
ADH Oxytocin
37
What are the criteria for diagnosis of McCune Albright syndrome?
Polyostotic fibrous dysplasia Cafe-au-lait skin pigmentation Autonomous endocrine hyperfunction (manifesting as hyperthyroidism, acromegaly, Cushing syndrome)
38
Where in the adrenal gland is cortisol produced
Zona fasciculata of the adrenal
39
Adrenal insufficiency causes...?
Hyponatraemia and Hyperkalaemia
40
Which cells produce testosterone?
Leydig cells secrete testosterone in response to LH stimulation
41
Treatment of minimal change disease?
Steroids (prednisolone) ACEi Diuretics Immunosuppresants (cyclophosphamide)
42
Where does the left testicular vein drain into?
Left renal vein
43
Where does the right testicular vein drain into>
Inferior vena cava
44
Which pump defect is associated with distal renal tubular acidosis?
H+/K+ ATPase
45
Which abnormality predisposes to testicular torsion?
A patent processus vaginalis
46
Triad of thrombocytopenia, renal failure and microangiopathic haemolytic anaemia?
Haemolytic uraemia syndrome
47
What are the blood results for HUS?
Low platelets High WCC Increased urea Increased creatinine Increased LDH Urine dipstick will show haematuria and proteinuria
48
Renal scarring investigation?
DMSA
49
Vesico-ureteric reflux disease?
Micturating cystourethrogram
50
Which nerve innervates the posterior skin of the scrotum?
Pudendal nerve
51
In what manner is growth hormone released?
Pulsatile manner
52
Features of hypercalcaemia?
Bones, stones, moans, groans
53
What are the features of polyglandular endocrinopathy type 1?
Mucocutaneous candidiasis Addison's disease Parathyroid gland dysfunction
54
What are the features of polyglandular endocrinopathy type 2?
Most common type Addisons disease and thyroid dysfunction +/- T1DM
55
What is the typical finding on a muscle biopsy in patients with thyroid disease?
Checkerboard pattern of necrosis and regeneration
56
What is somatostatin also known as?
Growth hormone inhibiting hormone
57
What does 5 alpha reductase deficiency cause?
XY males but have external female genitalia - androgen insensitivity syndrome
58
Which hormones are decreased in a stress reponse?
Insulin Testosterone Oestrogen
59
Causes of hypogonodotrophic hypogonadism?
Kallman's syndrome Prader-Willi syndrome Bardet-Biedl syndrome
60
Causes of Hypergonadotrophic hypogonadism?
Noonan's Turners Prader-Willi Klinefelters
61
Identical twin risk of T1DM?
30-50%
62
Alcohol .... glucogenolysis?
Alcohol inhibits glycogenolysis
63
Which mutations account for MODY?
Glucokinase mutations