Endo Flashcards
Multiple endocrine neoplasia types
MEN1 (MEN1 gene)
- Pituitary
- parathyroid
- Pancreas
MEN 2a (RET oncogene)
- Parathyroid
- Pheochromocytoma
- Medullary thyroid
MEN 2b (RET oncogene)
- Pheochromocytoma
- Medullary thyroid
- Marfanoid, neuroma
Acromegaly ix & mx
1st line: Serum IGF-1 levels, if raised -> OGTT to confirm diagnosis
Mx: 1st. Trans-sphenoidal surgery
2nd: somatostatin analogue (octreotide), pegvisomant, dopamine agonists (bromocriptine)
3rd: radiotherapy
Addison’s disease ix
ACTH stimulation test (short Synacthen test)
cortisol measured before & after Synacthen 250ug IM
> 500 nmol/l makes Addison’s very unlikely
< 100 nmol/l is definitely abnormal
100-500 nmol/l should prompt a ACTH stimulation test to be performed
Addison’s disease mx
hydrocortisone: 20-30 mg per day, with the majority given in the first half of the day
fludrocortisone
- MedicAlert bracelets and steroid cards
- hydrocortisone for injection with needles and syringes to treat an adrenal crisis
intercurrent illness
- glucocorticoid dose should be doubled, with the fludrocortisone dose staying the same
addisonial crisis mx
hydrocortisone 100 mg im or iv
1 litre normal saline infused over 30-60 mins or with dextrose if hypoglycaemic
Congenital adrenal hyperplasia features
autosomal recessive disorders
21-hydroxylase deficiency features
- male features in female (virillisation)
- precocious puberty in males
- salt-losing crisis at 1-3 wks of age
11-beta hydroxylase deficiency features
- virilisation of female genitalia
- precocious puberty in males
- hypertension
- hypokalaemia
17-hydroxylase deficiency features
- non-virilising in females
- inter-sex in boys
- hypertension
Cushing syndrome ix
Confirming Cushing:
1st. overnight (low-dose) dexamethasone suppression test
(also 24 hr urinary free cortisol, bedtime salivary cortisol)
Localising test:
1st. 9am and midnight plasma ACTH (and cortisol) levels. If ACTH is suppressed then a non-ACTH dependent cause is likely such as an adrenal adenoma
2nd. high-dose dexamethasone suppression
- Cushing’s disease: suppressed ACTH & cortisol
- Ectopic ACTH syndrome: ACTH & cortisol not suppressed
- other causes (adrenal adenoma) - suppressed ACTH, cortisol not suppressed
DVLA diabetes:
GBV license
- no severe hypoglycaemic event in the previous 12 months
group 1 drivers:
- if no insulin one or less hypoglycaemia requiring the assistance within the last 12 months
- if on tablets, no need to inform
Graves mx
initial: propranolol
Refer to secondary care
- 1st. carbimazole
- 2nd. radioiodine (CI: pregnancy, <16yrs, thyroid eye disease)
Hyperosmolar hyperglycaemic state (HHS) ix & tx
dx
- hyperglycaemia (>30 mmol/L)
- hypovolaemia
- high serum osmolarity (2 * Na+ + glucose + urea)
(no significant ketonaemia or acidosis)
mx
- fluids - IV 0.9% sodium chloride solution, 0.5-1L/hour
- insulin- only if glucose stops falling
- VTE prophylaxis
Klinefelter’s syndrome features
47, XXY.
often taller than average
lack of secondary sexual characteristics
small, firm testes
infertile
gynaecomastia - increased incidence of breast cancer
elevated gonadotrophin levels but low testosterone
Maturity-Onset Diabetes of the Young (MODY) I features
autosomal dominant
persistent, asymptomatic hyperglycemia detected before the age of 25, without the typical features of Type 1 or Type 2 diabetes.
e diagnosis is confirmed by genetic testing,
Phaeochromocytoma mx
24 hr urinary collection of metanephrines
Surgery is the definitive management.
first stabilized:
alpha-blocker (e.g. phenoxybenzamine), given before a
beta-blocker (e.g. propranolol)
Pregnancy thyrotoxicosis tx
propylthiouracil in first trimester
Then switch to carbimazole
Primary hyperaldosteronism tx
plasma aldosterone/renin ratio is the first-line investigation. Then CT abdomen and adrenal vein sampling to distinguish unilateral/ bilateral
adrenal adenoma: surgery (laparoscopic adrenalectomy)
bilateral adrenocortical hyperplasia: aldosterone antagonist e.g. spironolactone
Primary hyperparathyroidism tx
1st. total parathyroidectomy
2nd. cinacalcet, a calcimimetic
Prolactinomas tx
1st: symptomatic patients are treated medically with dopamine agonists (e.g. cabergoline, bromocriptine)
2nd: A trans-sphenoidal approach
Sulfonylureas side effects
( increasing pancreatic insulin secretion )
hypoglycaemic episodes
weight gain
hyponatraemia
hepatotoxicity
avoid in breastfeeding and pregnancy.
Thiazolidinediones SEs
agonists to the PPAR-gamma receptor and reduce peripheral insulin resistance
weight gain
liver impairmen
fluid retention
fractures
bladder ca
Diabetes mellitus (type 1) dx
fasting glucose (>= 7.0) and random glucose/ OGTT (11.1 mmol/l )
If atypical features: >50yrs, BMI>25, slow hyperglycaemia: (to distinguish between T1&2 if doubt)
- diabetes-specific autoantibodies
- C-peptide low
(HbA1c not useful)
DMT2 dx, fasting & impaired glucose tolerance
(If symptomatic one measurement, if asymptomatic 2 separate occasions)
fasting glucose (>= 7.0)
glucose/ OGTT (11.1 mmol/l )
a HbA1c (48mmol/mol)
Impaired fasting: 6.1-7
Impaired glucose tolerance: fasting<7, OGTT 7.8-11.1
(People with IFG should then be offered an oral glucose tolerance test to determine if diabetes or IGT)
Ramadan DM rules
- eat a meal containing long-acting carbohydrates prior to sunrise (Suhoor)
- for metformin dose should be split one-third before sunrise (Suhoor) and two-thirds after sunset (Iftar)
- for sulfonylureas: OD after sunset, BD- most after sunset
T1DM mx
monitor Hba1c every 3-6 months - target <48
blood glucose at least 4x a day - target 5-7 on waking & 4-7 before meals
Insulin
- basal–bolus insulin regimens better than twice‑daily mixed insulin regimens,
adding metformin if the BMI >= 25 kg/m²
DMT2 mx
Mx
- Lifestyle
- (>48) ++ metformin
- (>58) ++2nd drug (sulfonylurea/ DPP-4 inhibitor/ pioglitazone)
- ++ 3rd drug from above/ insulin-based tx
- SGLT-2 inhibitors - start w metformin/ at any point if: QRISK ≥ 10%, established CVD, chronic heart failure
- If triple therapy not effective - switching one of the drugs for a GLP-1 mimetic if BMI>35 or weight loss needed. continue only if at 6 months reduction of >= HbA1c 11 mmol/mol & weight loss 3%
Targets
Lifestyle - target HbA1c = 48mmol/mol
Lifestyle + metformin - 48mmol/mol
++ any hypoglycaemic drug - 53 mmol/mol
