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Endocrine Flashcards

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1
Q

What are the 2 layers and the sub layers of the adrenal gland?

What hormones does the adrenal gland include in the order of the layers above?

Which hormones does the medulla produce?

A

Cortex- glomerulosa, fasiculata, reticularis
Medulla

Cortex- aldosterone, glucocorticoids, androgens

Medulla- noradrenaline and adrenaline

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2
Q

What is the main role of cortisol

What three processes therefore does it increase and what happens in each

A

Anti insulin- increases BSL
Gluconeogenesis- amion acids to glucose
Ketogenesis- fatty acids to glucose
Glycogenolysis- glycogen to glucose

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3
Q

What is CAH?

What is the usual pattern of inheritance?

Why might it impact on boys fertility

What skin finding is commonly seen

A

Congenital adrenal hyperplasia
Enzyme defects which cause impaired hormone secretion, increased ACTH and therefore adrenal hyperplasia

Ar

Increased risk of testicular rest Tumours. Destroys normal testicular tissue

Pigmentation

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4
Q

Classical CAH

Which gene is involved

A

CYP21A

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5
Q

CAH
What causes the classical form?
How does it present?
What is seen on bloods?
When do you need to start aldosterone replacement?
Who does the screening test benefit the most.

A

Deficiency in 21 hydroxylase enzyme causes reduced progesterone to dehydrocycortisone
Reduced glucocorticoids and aldosterone. High androgens.

Picked up on newborn screening or
Vomiting and shocked baby. Hypona hyperK metabolic acidosis. Hypotension. Females with ambiguous genitalia. Undervirilised males

Raised 17OHP

When hydrocortisone less than 50mg/m2

Boys with partial enzyme activity

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6
Q

Classical CAH
when does the salt wasting normally occur
How do the excess androgens affect them later

A

10-20 days

Advanced bone age and tall but early growth plate fusion

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7
Q

In classical CAH what does hypertension and a suppressed renin suggest

A

Over treatment with fludrocortisone

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8
Q

CAH
What is the second most common enzyme defect
How does it present?

A

11 beta hydroxylase deficiency

Normal aldosterone, increased DOC causing hypertension, excess androgens

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9
Q

11 beta hydroxylase deficiency
What pathway is affected
What happens the electrolytes and why
How is it treated

A

Reduced doc to corticosterone
Raised DOC acts like high aldosterone
Spironolactone- block the aldosterone

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10
Q

CAH
How does 17 hydroxylase deficiency present?

How does 3B hydroxysteroid dehydrogenase present? How is it differentiated from classical CAH

A

Androgen deficiency. Salt wasting and hypertension. Boys appear like girls, girls don’t have puberty

Low aldosterone and cortisol. Increased DHEA reduced testosterone. Like classical CAH but both genders have ambiguous genitalia
17 OHP to progenolone ratio.

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11
Q

Where is the defect in STAR deficiency

What is the characteristic presentation

A

High up- no cholesterol to pregenolone

Males appear female

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12
Q

Cushings
What is the difference between disease and syndrome
What is the key presenting feature of disease

A

Disease=pituitary adeonma
Syndrome- all other causes
Bitemporal hemianopia

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13
Q

What tumours are associated with raised acth (give 4)

What sign will be common to all

A 
Wilms 
Phaeochromocytoma
Neuroblastoma 
Small cell lung 
Hyperpigmentation
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14
Q

Where is the defect in ACTH independent causes of cushings?

What is the most common acth independent cause of cushings. What is it associated with?
What other syndrome can cause it?

A

Adrenal itself or exogenous steroids

Malignant tumour of the adrenal cortex-Beckwith widemenn

McCune Albright

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15
Q 
Cushings 
What will the electrolytes do? Why?
What is the best initial screening test?
What is the best next test? What should it show 
What are the best next tests?
A

High sodium low potassium. Increased cortisol blocks up and stimulates the aldosterone receptors. High glucose
24 hour urinary cortisol
Dex suppression- suppress early morning peak. If not= disease
ACTH levels. Mri brain if ACTH HIGH or ct abdo IF ACTH LOW

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16
Q

Adrenal insufficiency
What happens to aldosterone and acth. Why?
How does it present
In addisons what type of antibodies develop
What is addisons associated with?
How can steroids cause it?

A

Low aldosterone. Raised acth- negative feedback from low cortisol
Hyperpigmentation, low sodium high potassium
Pyelonephritis
Antiadrenal cytoplasmic antibodies. Autoimmune polyendocrinopathy syndrome
Suppressed normal secretion of ACTH

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17
Q

Adrenal insufficiency
What does the short synacthen test do?
What does it show if it is positive
What use is the long test

What is another blood test that can differentiate between primary and secondary causes

A

Gives exogenous ACTH
should stimulate raised cortisol- not in primary. Delayed in secondary
Long- a secondary cause will have a response. Primary won’t

Renin aldosterone ratio- high renin low aldosterone in primary causes
Normal in secondary causes

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18
Q

What are 2 congenital causes of adrenal insufficiency

What are the most diagnostic tests for them

A

CAH
X linked adrenoleukodystrophy- very long chain FAs
smith lemil opitz- serum 7 DOC

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19
Q

Why do UTIs in babies give a picture of adrenal insufficiency
What happens the cortisol aldosterone and renin

A

Aldosterone resistance!

Normal cortisol, high RAAS

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20
Q

What is conn syndrome and what does it cause?

A

Adrenal adenoma- hyper aldosterone.

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21
Q

What are other causes of aldosterone xs. What will be seen in bloods to dofferentiate from renal causes

A

Renal artery stenosis
Wilms tumours

Hypernatraemia
Hypokalaemia
High blood pressure
High aldosterone but LOW RENIN

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22
Q

What is the 10%rule in paheochromocytoma?

What is the most likely genetic association

A

10% bilateral, malignant, recurr

SDHB mutation

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23
Q

What does thyroid peroxidase convert

What type of hormone is thyroid hormone

A

Iodide to iodine

Lipid hormone

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24
Q

Thyroid
Why is TSH falsely high after birth

What makes up T3 and T4

A

Cord clamping

Thyroglobulin and iodine

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25
Thyroid What are the 3 most common causes of congenital primary hypothyroidism? What is pendred syndrome What is the inheritance of thyroid binding globule deficiency What should be the initial Investigations be?
Thyroid a/dys genesis. Dyshormonogenesis. Ectopic thyroid SN deafness and hypothyroid with goitre X linked Bloods, ultrasound, nucleotide scan
26
Thyroid What is the most common cause of acquired hypothyroidism? What antibodies are seen?is treatment lifelong? Do they have a goitre? Do they have eye signs? What is seen on isotope scan
``` Hashimotos Anti thyroglobulin or peroxidase Yes! Yes goitre no eye signs Reduced or patchy uptake ```
27
What is sick euthyroid syndrome? | What is seen on bloods
Transient hypothyroid after surgery or illness | Low t4 normal TSH
28
Thyroid What is de quervains thyroiditis What is the typical sign What is the pattern of disease
Thyroid disease after a viral illness Tenderness to the thyroid Low then normal then high
29
What antibodies are seen Graves’ disease normally? What type of antibodies are they?
Thyroid stimulating hormone receptor antibodies | IgG
30
What are the main side effects of carbimazole
Rash, agranulocytosis
31
Adrenal What is the role of cortisol What three things does it increase What other hormones need it to work
Stress response- counter regulates insulin Increased gluconeogenesis, glycogenolysis and ketogenesis Glucagon and adrenaline
32
Thyroid | Which HLAs- hashimotos, graves
Graves-B8 | Hashimotos Dr4/5
33
Thyroid binding globule deficiency How is it inherited? What is seen on bloods?
X linked | Low total t4, normal free t4
34
Thyroid | What are the risks of neonatal graves
Craniosynostosis, low IQ
35
Outline normal calcium metabolism | Which hormone inhibits this process
Vitamin D absorbed by the skin goes to the liver as 25ohvitamin D Then to the kidney where 1 alpha hydroxylase to 1,25 vitamin d(calcitriol) Acts on the gut to absorb more calcium Acts on the bones to increase osteoblasts and osteoclasts and free calcium from the bone Parathyroid increases this Calcitonin
36
What is the main cause of hypoparathyroidism What syndrome is associated with it What is seen on bloods
Idiopathic Di George Low calcium high phosphate abnormally normal PTH
37
Pseudohypoparathyroidism What is it What syndrome is most likely associated How do you differentiate from hypoPTH
Gland is normal but non responsive Albright hereditary osteodystrophy Won’t respond to pth stimulation, PTH will be inappropriately high
38
HyperPTH | What is likely to cause it?
PTH adenoma
39
Why does rickets affect bones? What most likely causes it? What is seen on bloods What is a less likely cause? What occurs What gene is defective What is seen on bloods
Formation of unmineralised growth plates Vitamin D deficiency (sunlight or diet) Low calcium, secondary raised PTH. LOW PO4 X linked dominant low phosphate. Can’t activate vitamin d PHEX Gene Phosphate low ++ but normal calcium and po4
40
``` Timing of hormone release- which hormones? Continuous Sleep related Circadian Stress Injury ```
``` Thyroid Prolactin GH Cortisol ACTH cortisol ```
41
How do you correct sodium for hyperglycaemia
Sodium + (glucose/4)
42
How do you calculate mid parental height for a girl? Boy?
(Mum+12.5)+ dad all divided by 2 (Dad-12.5) + mum all divided by 2
43
Growth hormone deficiency What is the most likely cause of isolated deficiency? What treatment is it most likely associated with
Idiopathic | Radiotherapy
44
Panhypopituitarism | What are the 2 different presentations in congenital and acquired
Congenital- gradual growth failure, poor feeding and apnoea at birth. Phenotypically atypical- short neck, small hands and feet, dental crowding Acquired- born normal then regress, atrophy of gonads or hair, DI
45
What type of cns defects involve hypopituitarism What else is seen with septo optic dysplasia? What can cause an acquired panhypopit
Midline defects Nystagmus and visual impairment Meningitis, base of skull fractures and bleeds, tumours, infiltrates
46
What are the three roles of insulin? | What does each step do?
Glycolysis- breaking glucose into atp Glycogenesis- glucose to glycogen Lipogenesis- glucose to fat
47
What are the 4 roles of glucagon? | What does each step do?
Glycogenolysis- breaking glycogen into glucose Gluconeogenesis- amino acids to glucose Lipolysis- lipids to fatty acids Ketogenesis- fatty acids into ketones
48
What is MODY WHat is common to all What is the most common subtype and how does it present? How is it treated? Prognosis? How does type 2 present
Maturity onset diabetes AD Type 3- defect hepatocyte factor 1a. Adolescence. Sulphonylurea. 2- defective glucokinase enzymes. Mild diabetes. Small doses of insulin
49
Which HLA subtype is type 1 commonly associated with
DR 3/4
50
Does transient diabetes of neonate present with ketosis?
No
51
What is needed to diagnose diabetes Fasting glucose Hba1c Random glucose
>7 >6.5 (48) >11
52
``` Puberty What happens to the HPG axis pre puberty? What happens next? What are the stages in girls? “Boys? ```
Dormant then increased LH in sleep- gonads enlarge Adrenarche starts because of raised DHEAs Gnrh released pulsatile- gonads release testosterone and oestrogen Telarche, adrenarche, gonadarche, menarche (Breast buds, pubic hair, axillary hair, periods) Testicular enlargement, pubic hair, phallic growth, axillary hair, growth spurt
53
What is the main hormone lacking in hypoglycaemic unawareness
Adrenaline
54
What do infants of diabetic mums have | What happens their glucagon
Transient hyper insulinism | Low glucagon
55
Puberty What is the first sign in girls. What Tanner stage does this equate to? What is the first sign in boys? What size
Breast development- Tanner 2 | Testicular size- >3ml
56
In relation to puberty When is female peak height? When is male?
Pre menarche | Much later- at end
57
How and when do gonads turn male or female?
7 weeks Start as a bipotential gonad Y chromosome- SRY gene Promotes the wolfinnian duct to make testosterone and makes male genitalia Promotes anti mullerian hormone therefore female structures regress Female=xx therefore no testosterone so wolfinnian duct regresses and Müllerian duct grows into female structures
58
``` Ambiguous genitalia If you are 46xy but appear female what is the defect? How will you appear? Do you have a uterus? What are the gonads? ```
Lack of androgens Look feminine No uterus or Fallopian tubes Testis
59
``` Androgen insensitivity syndrome What is the karyotype? What is the inheritance? Do they have testis? If so where Do they have a uterus? ```
46XY X linked Yes- usually intra abdominal No- bling ending vagina
60
What are causes of 46XY appearing female | Give 3 syndromes associated and their main features. What gene are they associated with?
Androgen insensitivity Persisting Müllerian duct 5 alpha reductase deficiency Gonadal dysgensis WAGR- wilms aniridia and GU malformations Denys drash- wilms and ambiguous genitalia frasier- genitalia issues and renal tubule Disease WT1
61
``` Ambiguous genitalia If you are 46XX but appear male what is the cause? What is the most likely disease? What maternal Conditions may be associated? ```
Excessive androgens CAH (classical) Maternal tumours or drugs
62
Ambiguous genitalia What is a true hermaphrodite? What is the usual Karyotype? What is the diagnostic label
Both ovarian and testicular tissues 70% 46Xx Ovotesticular DSD
63
Precocious puberty? What age group is it considered What are the 2 types and how do they present differently? What test will differentiate?
<9 boys, <8 girls Central- presents in the normal order Peripheral- not “ GnRH stimulation- won’t cause increased FHS or LH if peripheral cause
64
``` Precocious puberty What is the most likely central cause? What is seen on mri What treatment may cause it and why? Give three other tumours that cause it? ```
Hypothalamic hamartoma Pedunculated mass on mri, can extend to third ventricle Radiation- causes panhypopit Astrocytomas, ependymomas, pineal
65
Precocious puberty What peripheral causes might cause it What 2 syndromes are associated
Adrenal tumours CAH Gonadal tumours- ovarian or testicular leidig Fragile X McCune Albright
66
McCune Albright syndrome Gene Mutation Triad of issues- What endocrine issues?
GNAS Random mutation Fibrous dysplasia, unilateral cafe au Laits and endocrine Hyperthyroid, cushings, precocious puberty, gigantism or acromegaly
67
Delayed puberty When is it considered in boys and girls? What is the most likely cause? What test will diagnose “?
>16 boys, >14 girls Constitutional delay Bone age delayed on X-ray
68
Delayed puberty What is primary hypogonadism otherwise known as? Give the two syndromes that cause it in boys? Give the one in girls?
Hypergonadotrophic hypogonadism Noonans & Klinefelters Turners
69
Noonan syndrome Associated cardiac features Endocrine
HOCM and pulm stenosis | Delayed puberty- hypergonadotrophic hypogonadism
70
Klinefelter syndrome | What is the karyotype
47XXY
71
Turners Karyotype Why are they infertile What in puberty will be early
Formation of streak ovaries- ovaries replaced by connective tissue Andrenarche, rest late
72
Hypogonadotrophic hypogonadism What 2 syndromes can cause it in boys What commonly causes it in girls
Kallmans and Prader willi | PCOS
73
What autoantibodies are commonly seen in diabetes | Which are the first to appear?
GAD Ia2 insulin autoantibodies | Iaa
74
What are the normal insulin requirements Pre pubertal Pubertal
0.8 units/kg per day | 1
75
Why might sodium be low In dka | How do you correct for low na
Pseudo hypo na | Measured na + (glucose/4)
76
What percentage of beta cells are lost before type 1 diabetes appears symptomatically
80-90%
77
What happens insulin levels in ketotic hypoglycaemia
Low
78
Gynaecomastia What syndrome is it associated with? Can it be unilateral and painful in pre pubertal causes?
Klinefelter | Yes
79
How do pituitary tumours present? What hormones do you expect to be changed in craniopharyngioma? Do they cause exaggerated growth?
Supratentorial Deficiency in ant pot hormones and ADH- SIADH No!
80
What causes acromegaly or gigantism? | What is the difference between the two?
Pituitary adenoma that secretes GNRH | Gigantism=after epiphyseal closure
81
What are the two basic tests used for suspected growth hormone deficiency What is the stimulation test?
IGF1 and bone age | Cloned one arginine suppression test
82
Growth hormone What does it do to blood glucose What inhibits it?
Raises it- anti insulin | Somatostatin
83
Osteogenesis imprefecta What is the rhyme to remember the subtypes What is the inheritance Which have blue sclera
1=won- mild to mid 2= too sad- death 3=worst to be- severe disability 4=blue no more- mildest 1&2- blue sclerae 1&4- AD, rest AR
84
What is an example of a biguanide? What is the most likely side effect? How does it work
Metformin GI Increases sensitivity to insulin
85
What is an example of a sulphonylurea? What is the main side effect? How does it work? Can it cause hypo?
Glipazide Rash Increases insulin secretion Yes!
86
Thiazolinedinedones What is an example How do they work What are side effects and why might you not use in obesity
Pioglitazone Increases sensitivity to insulin Abdo pain headache and increases BMI
87
IPEX syndrome Inheritance? Gene? What are the three likely features
X linked- FOX3 | Eczema, diabetes and imunodysregulation
88
``` Alstrom syndrome Which endocrine disease is it a rare presentation of? Inheritance Gene What are key features ```
T2 DM AR ALMS1 Short with colour blindness and hearing loss
89
What is the most severe form of neonatal diabetes? | How can it be treated?
DEND syndrome- dev delay, epilepsy and diabetes. | Sulphonylurea
90
Transient neonatal diabetes Gene Inheritance
ZAC | Paternal imprinting
91
What Chemo can cause DKA
Asparginase
92
What is a somogyi effect What causes a honeymoon phase What causes the dawn phenomenon- what is it
Rebound high BSLs when BSLs are low ON residual c peptide High GH- morning highs
93
``` DKA What is mild/mod/severe Why do you get fluid and electrolyte depletion How is mild managed How is mod or severe managed ```
Mild- ph <7.3, mod <7.2, severe <7.1 Too much glucose to the kidneys- osmotic diuresis, stimulates RAAS, low na and high K Oral fluids and Sc insulin (0.1 units/kg four hourly) Bolus of 0.9 if severe or shocked Start with 0.9%NaCl- replace maint plus defecit of 7-10% over 48 hrs. Add 5% deX when BSL<17 After first hour start insulin (0.1u/kg/hr) and K infusion
94
What is the total daily dose of insulin- pre pubertal? Pubertal?
0.8u/kg/day | 1 u/kg/day
95
Autoimmune polyendocrinopathy 1 Does it have a genetic association What are the three classical associations What else may occur
Yes- AR defects of autoimmune regulatory gene Hypoparathyroid, primary adrenal insufficiency and chronic mucocutaneous candidiasis Vitiligo, slope is, hepatitis diabetes gonadal dysfunction
96
What tumours are seen in MEN 1 | Where is the defect
Ps- pancreatic adenoma, parathyroid adenoma and pituitary adenoma Ch11
97
Polyendocrinopathy type 2 Is there a genetic defect What are the two most common endocrine features?
Not usually | Hashimoto’s thyroiditis and addisons
98
MEN 2 Gene? Inheritance? Tumours in A and B
Ch 10, AD a- calcium calcitonin and catecholamine- thyroid medulla, parathyroid adenoma and phaeo B- big- pituitary adenoma Belly- phaeo, GI mucosal
99
What insulin dose is given in mild DKA | Is this the same as the infusion used in mod- severe
0.1units/kg/dose | Yes but continuous infusion
100
Steroid hormone Which is immediate release Which have a long duration
Cholesterol | Oestrogen/progesterone, testosterone, aldosterone and cortisol
101
Which two hormones are tyrosine hormones
Thyroxine and adrenaline
102
Which hormones are peptide hormones | What type of hormone are they
Glucagon, insulin, adh, oxytocin, prolactin, ACTH and PTH | Prohormones
103
What is the difference between leptin and Grelin
Leptin- makes you thin- appetite suppressant | Grelin- makes you a fat gremlin- appetite stim
104
How does height affect DEXA scanning | What is normal, osteopenia, osteoporosis
Tall- overestimated Short- underestimated Normal- >-1 Osteopenia- -1–2.5 Severe less than -2.5

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