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RACP Written Exam Cram Series > Endo Cram > Flashcards

Endo Cram Flashcards

(125 cards)

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1
Q

Adrenal cortex zones and products?

A

Zona Glomerulosa - produces aldosterone regulated by ECF concentration of K+ and angiotensin II
Zona Fasciculata - produces cortisol regulated by ACTH
Zona Reticularis - produces DHEAS -> androgens regulated by ACTH

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2
Q

Regulators and effects of mineralocorticoids?

A

Up-regulated by Angiotensin II (most powerful) and high K+
Down-regulated by atrial naturetic peptide
Increases Na channel in collecting duct
Increases Na and K+ excretion
Increases blood volume and blood pH

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3
Q

Regulators and effects of glucocorticoids?

A

ACTH stimulation produces cortisol
Highest on waking, lowest asleep
Increases gluconeogenesis and increases insulin resistance
Decreases B cells and lowers immune function
Increases bone resorption and lowers Ca = low BMD
Decreases fibroblasts (bruising, poor wound healing)
Increases adrenal androgens

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4
Q

Products of the adrenal medulla?

A

Dopamine
Norepinephrine
Epinephrine

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5
Q

Effects of Angiotensin II?

A

Vasoconstriction of efferent arterioles to increase resorption of sodium and water
Systemic vasoconstriction
Thirst
ADH release - water retention
Aldosterone release - sodium respiration and potassium excretion
Heart remodelling

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6
Q

Primary adrenal insufficiency

A

Deficiency of glucocorticoids and mineralocorticoids

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7
Q

Central adrenal insufficiency

A

Deficiency of glucocorticoids ONLY
Secondary - pituitary defect
Tertiary - hypothalamic

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8
Q 
Low cortisol
High ACTH
Hypertension
HypOnatremia & hypERkaelaemia
High plasma renin
A

Primary adrenal insufficiency

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9
Q

Low cortisol
Low ACTH
Fasting hypoglycaemia

A

Secondary adrenal insufficiency

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10
Q

Synacthen test?

A

ACTH stimulation test
Normal in primary adrenal insufficiency
Low in secondary adrenal insufficiency
Low in tertiary adrenal insufficiency

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11
Q

Who to consider adrenal crisis in?

A

Primary adrenal insufficiency
Hypopituitarism
Previous or current prolonged steroid therapy

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12
Q

Presentation of adrenal crisis?

A 
Hypotension & shock
Hyponatremia
Hyperkalaemia
Hypoglycaemia 
Metabolic acidosis
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13
Q

Sign of primary adrenal failure?

A

Hyperpigmentation due to ACTH excess stimulating melanocortin1 receptor

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14
Q

Steroid replacement in adrenal crisis?

A

50-100mg/m2 IV hydrocortisone

If mineralocorticoid deficiency fludrocortisone can be started once oral intake is being tolerated

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15
Q

Causes of primary adrenal insufficiency?

A

CAH - infancy
Autoimmune - childhood
APECED - childhood
Adrenoleukodystrophy - childhood

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16
Q 
Low cortisol
High ACTH
HypOnatremia/HypERkalaemia
HIGH renin
Hyperandrogenism - ambiguous genitalia in females
A

21-Hydroxylase deficiency
Autosomal recessive
CYP21A2

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17
Q

Ambiguous genitalia in females or increased penile length in boys
Hypertension
HypOkalemia
LOW renin

A

11B-Hydroxylase deficiency

CYP11B1

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18
Q

Ambiguous genitalia in males
Pubertal delay
Hypertension

A

17a-hydroxylase deficiency

CYP17A1

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19
Q

Weakness/spasticity

Blindness

A

Adrenoleukodystrophy
X-Linked
ABCD1

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20
Q

Craniofacial malformation
Growth failure
Developmental delay

A

Smith-Lemli-Opitz

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21
Q

Hypothalamic haemartoblastoma
Hypopituitarism
Imperforate anus
Gelastic seizures

A

Pallister-Hall

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22
Q

Non-classic 21-hydroxylase CAH presentation?

A

Premature pubarche

Advanced bone age

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23
Q

Cushing syndrome VS disease?

A 
Syndrome = prolonged glucocorticoid excess
Syndrome = pituitary adenoma secreting ACTH
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24
Q

Investigation findings in Cushing’s?

A

High midnight cortisol
High urinary cortisol
Elevated after low dose dexamethasone suppression test

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25
Purpose of 2 step Dex suppression test?
Differentiate ACTH dependant or independant Cortisol not suppressed if ACTH independant Cortisol suppressed in pit adenoma
26
Causes of ACTH independant Cushing?
Iatrogenic Adrenal adenoma McCune-Albright/Primary Pigmented Nodular Adrenocortical Disease
27
HypERnatremia HypOkalaemia Hypertension Low renin
Conn's Syndrome | Primary Aldosteronism
28
Familial cancer syndromes associated w adrenocortical tumours?
Li Fraumeni (TP53) Multiple Endocrine Neoplasia (MEN1) Familial adenomatous polyposis (APC) PRKAR1A gene
29
Headache Sweating Tachycardia
Phaeochromocytoma - von Hippel-Lindau - MEN2A MEN2B - NF1 - TS - Sturge Weber - Ataxia Telangiectasia
30
Hormone production of alpha, beta and gamma pancreatic cells?
Alpha - secretes glucagon Beta - secretes insulin Gamma - secretes somatostatin
31
Earliest sign of beta cell dysfunction?
Loss of insulin secretion pulsatility | Diabetes clinically evident when 90% of beta cells lost
32
Site of action of glucagon?
Liver
33
Glucose maintenance mechanism in fasting periods?
2-4 hrs dietary glucose Glycogenolysis stimulated by glucagon 10-12hrs Gluconeogenesis stimulated by cortisol 12-24hrs Lipolysis stimulated by GH 18-36hrs
34
Genes associated w T1DM?
85% NO FHx | HLA-DR3/4 and HLA-DQ2/8
35
Risk factors for T1DM?
Viral infections (40% congenital rubella) Diet - BF protective, cows milk risk High SES Vit D def
36
Presentation of T1DM
``` Polyuria Polydipsia Weight loss Perineal canidiasis Visual disturbance (osmotic millieu of lens) ```
37
Antibodies assoc w T1DM?
Islet cell cytoplasmic antibodies - 70% Anti-insulin antibodies - first apparent, disappear w insulin Anti-GAD - 70-80% Anti-IA2 - best predictor of T1DM development Anti-zinc transporter - 99% specific
38
Autoimmune associations of T1DM?
Autoimmune thyroid disease 5% hypothyroid, 1% hyperthyroid Celiac - increased risk if younger age of onset Adrenal disease Gastric autoimmunity Vitiligo
39
Side effects of insulin?
``` Formation of antibodies Hypoglycaemia Insulin resistance Weight gain Local reaction Lipohypertrophy at injection site ```
40
Diabetic retinopathy screening and management?
1-2yearly from age 9/2yrs diabetic Cotton-wool/soft exudates Laser photocoagulation or photocoagulation
41
Diabetic nephropathy screening and management?
Annually from age 9/2yrs diabetic Alb:Cr ratio Improve BSL control, BP control, ACE-inhibitor, reduced protein diet
42
Diabetic neuropathy screening and management?
Annually from age 9/2yrs diabetic | Vibration/proprioception
43
Dwarfism Delayed puberty Hepatomegaly with steatosis Cushingoid features
Mauriac Syndrome | Chronic underinsulinisation
44
DKA diagnostic criteria?
Hyperglycaemia Metabolic acidosis (pH <7.3) Ketonuria
45
Fluid and electrolyte replacement in DKA?
NS bolus if hypoperfused NS + K+ for first 6hrs Na will self-correct K+ needs active replacement with correction of acidosis BICARB NOT RECOMMENDED - paradoxical CNS acidosis
46
Risk factors for cerebral oedema?
1% of DKA presentations 1st presentation, long hx of poor control, age <5 Risk period is first 6-12 hrs after therapy initiation -> treat w mannitol and fluid reduction
47
When to suspect T2DM?
Strong FHx Obesity/central adiposity Acanthosis nigricans, skin tags No insulin requirement after honeymoon phase
48
Who to screen for T2DM?
``` Overweight PLUS - FHx - Hispanic/polynesian/indian/chinese - acanthosis/HTN/dyslipidaemia/PCOS SCreening test îs fasting plasma glucose ```
49
Most common presentation of T2DM?
Symptomatic - polyuria, polydipsia, fatigue | 10% present in DKA; 10% hyperglycaemia hyperosmolar
50
Treatment of choice for T2DM?
Metformin monotherapy | Insulin if HbA1C >9%
51
SEs of metformin?
Abdo pain, diarrhoea, lactic acidosis | Assists in weight loss
52
Biguanide (metformin) mechanism?
Reduce hepatic glucose production Reduce glucose uptake from stomach Increase insulin sensitivity
53
Sulfonylureas (gliclazide) mechanism?
Increase insulin secretion from pancreatic beta-cells
54
Thiazolidinediones (-azones) mechanism?
Increase insulin sensitivity
55
Acarbose mechanism?
Reduce glucose absorption from GI tract
56
SLGT2 inhibitor (-pagliflozins) mechanism?
Promotes glycosuria reducing BGL
57
Hyperosmolar hyperglycaemia?
Severe hyperglycaemia without ketosis Dehydration +++++ Needs more fluid Jesus than DKA, less insulin
58
Non-insulin dependant diabetes Diagnosis <25 No auto-antibodies Strong FHx (>2 generations)
MODY Autosomal dominant Treat w sulfonylureas
59
Most common MODY genes?
HNF1-alpha 50-65% (treat w sulfonylureas) | GCK 15-30% (treat w diet)
60
Which area of brain most susceptible to hypoglycaemia in neonatal period?
Occipital - visuospatial impairment
61
Determinants of growth in early childhood vs later childhood?
Genetic/chromosomal at all ages is most important factor First 3 years of life - nutrition main driver, also IGF2 Later childhood growth hormone, nutrition, thyroid, vitamin D, steroids
62
Female vs male peak growth velocity?
Females 11-12 | Males 13-14
63
Bone age normal range?
Up to 1yr/20% difference to chronological age considered normal
64
Conditions to consider if equal reduction in height and weight?
Chromosomal/TORCH
65
Conditions to consider if height more affected?
Endocrinopathies/skeletal dysplasia
66
Conditions to consider if weight more affected and HC normal?
Malnutrition
67
Precocious puberty in girls vs boys?
``` Girls = unlikely pathological Boys = brain tumour until otherwise proven ```
68
Delayed puberty in girls vs boys?
``` Girls = Turners until otherwise proven Boys = likely to be normal ```
69
Cause of short stature in Turners?
SHOX (short stature homeobox) insufficiency
70
Cause of short stature in renal failure?
IGF-1 deficiency | Renal disease = high GH and low/normal IGF-1
71
Features of constitutional growth delay?
``` Short child with normal height parents Slow growth Delayed puberty Delayed bone age Has good height prognosis ```
72
Features of familial short stature?
Child short and parents shirt Normal growth and puberty Normal bone age Has poor height prognosis
73
Hypoglycaemia Micropenis Jaundice
Growth Hormone Deficiency
74
Causes of growth hormone deficiency?
GH1 mutation Post-radiotherapy Trauma Infection (meningitis), inflammation, histiocytosis
75
Causes of growth hormone insensitivity?
GH Release Hormone mutation GH Receptor mutation IGF-1/IGF-1 receptor mutations
76
Complications/AEs of growth hormone replacement therapy?
``` Primary/central hypothyroidism T2DM Pseudotumour cerebrii Gynaecomastia SUFE Adenotonsillar hypertrophy/worsens OSA Possible link to leukaemia/brain tumours ```
77
Factors affecting onset of puberty?
Genetics | Increased BMI
78
Testosterone production?
Produced by Leydig cells and synthesised in tissues by 5-alpha reductase
79
In males FSH stimulates?
FSH stimulates Sertoli cells and results in spermatogenesis
80
In males LH stimulates?
LH stimulates Leydig cells and produces testosterone
81
In females FSH stimulates?
FSH stimulates follicular thecae cells and produces oestrogen/progesterone
82
When is greatest % of bone mass accrued?
Puberty - 50% of total bone mass
83
Hormone profile in central precocious puberty?
High LH and FSH (even post GnRH stimulation test) | High estradiol and testosterone
84
Hormone profile in combined central/peripheral precocious puberty?
Low then normal FSH and LH | High estradiol and testosterone
85
Hormone profile in peripheral precocious puberty?
Low LH/FSH | High estradiol and testosterone
86
Causes of central precocious puberty in girls?
``` Idiopathic (80%) Brain lesions - hypothalamic harmatoma or brain injury (radiation, hydrocephalus) Hypothyroidism NF1 MKRN3 - most common genetic cause ```
87
Precocious puberty and slow growth?
Hypothyroidism
88
Precocious puberty Cafe au lait/coast of Maine lesion Fibrous dysplasia
McCune Albright
89
Causes of peripheral precocious puberty in boys?
Hepatoblastoma | Germ cell tumours/gonadal or adrenal tumours
90
Solitary maxillary incisor
GH deficiency
91
Short stature Frontal bossing, triangular face Short incurved 5th fingers SGA and FTT
Russell-Silver
92
Rapid growth in early childhood with no endocrine disorder found
Sotos Syndrome
93
TSHR antibody
Graves disease
94
Anti-Tg antibody
Autoimmune thyroiditis
95
Anti-TPO antibody
Autoimmune thyroiditis
96
Hypothyroidism | Absence of thyroid uptake on radio nucleotide scan?
Agenesis (most common) Maternal thyroid blocking antibodies Iodine trapping defect
97
Hypothyroidism | Increased thyroid uptake on radio nucleotide scan?
Dyshormonogenesis | Iodine exposure
98
Hyperthyroidism | Reduced thyroid uptake on radio nucleotide scan?
Exogenous T4 Subacute thyroiditis Hashimoto's
99
Hyperthyroidism | Increased thyroid uptake on radio nucleotide scan?
Graves | Multinodular/toxic nodule
100
Defect of thyroid binding globulin?
Not associated with clinical disease and requires no treatment X-linked dominant
101
Congenital hypothyroidism causes?
85% thyroid dysgenesis | 15% hereditary mutation of thyroid hormone synthesis
102
Hypothyroidism Sensorineural deafness Goitre Temporal bone abnormality
Pendred syndrome
103
Most common cause of acquired hypothyroidism?
Hashimoto's thyroiditis
104
Autoimmune acquired hypothyroidism causes?
``` Hashimoto's T21 Turner's T1DM Kleinefelter ```
105
Difference between transient hypothyroxinaemia and transient hypothyroidism?
Both affect press Both have Low T4 Transient hypothyroxinaemia has a normal TSH but hypothyroidism has a high TSH No need to treat hypothyroxinaemia, hypothyroidism needs treatment
106
Syndromes associated w Hashimoto's?
``` APS1/2 IPEX Turner T21 Kleinefelter ```
107
Genes associated w increased risk of Graves?
HLA-B8 and HLA DR3
108
AEs of carbimazole?
``` Agranulocytosis ANCA vasculitis Pancreatitis Hepatotoxicity Cholestatic jaundice Lupus like syndrome Glomerulonephritis Teratogen ```
109
PTH actions?
Increased bone resorption within minutes Increased intestinal absorption of calcium within days Decreased urinary calcium excretion from distal tubule within minutes Increased urinary phosphate excretion from proximal tubule
110
Anatomic locations in Vit D synthesis?
7-dehydroxycholesterol -> cholecalciferol in SKIN Colecal -> 25OHD LIVER 25 OHD -> 1,25OHD KIDNEY
111
Hypocalcaemia and low PTH?
Hypoparathyroidism | HypoMg
112
Hypocalcaemia with normal PTH?
Abnormal calcium sensing receptor
113
Hypocalcaemia with high PTH?
Vit D deficiency Pseudohypoparathyroidism Renal failure
114
Hypocalcaemia Hyperphosphataemia High PTH
Pseudohypoparathyroidism
115
Causes of hypercalcaemia?
``` William's Syndrome Primary hyperparathyroidism Vit D excess Subcutaneous fat necrosis Renal disease ```
116
Medications that inhibit Vit D?
Glucocorticoids Anti-epileptics Anti-fungals Anti-TB
117
``` Bone pain Muscle cramps Delayed dentition Delayed fontanelle colsure Bowed legs Hypocalcaemia ```
Rickets
118
Radiographic findings of rickets?
``` Best seen at growth plate of rapidly growing bones - ulna/knee Metaphyseal widening, fraying Osteopenia Fractures Trabecular bone ```
119
Phosphopenic rickets
Renal phosphate wasting - Fanconi Hereditary Presents with short stature and PROFOUND skeletal bowing
120
Posterior pituitary hormones?
ADH (vasopressin) | Oxytocin
121
46XY | Female genitalia
Complete androgen insensitivity
122
Anosmia | Delayed/absent puberty
Kallman
123
Learning disability Tall, long legs Mitral valve prolapse Small testes, penis
Kleinefelter | 47XXY
124
Bioavailability of sex hormone (oestrogen/testosterone) depends on what?
Level of sex hormone binding globulin
125
Cryptophthalmos Ambiguous genitalia Craniofacial anomalies
Fraser syndrome

RACP Written Exam Cram Series (19 decks)

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