Endo Quickfire Flashcards
MEN
a) 3 types and features
b) MEN1 associated with which gastric condition?
Mnemonic: PPP(P), PPM, PMM(M)
a) MEN1*:
- Menin gene (Ch 11 - “menin elevenin”)
Parathyroid adenomas (multiple)
Pituitary adenoma
Pancreatic tumour (e.g. gastrinoma - causing Peptic ulcer disease i.e. Zollinger-Ellison, or other tumours e.g. insulinoma, etc.)
MEN 2A**
- RET gene (Ch 10 - RET = TEN backwards, almost)
Parathyroid adenomas (multiple)
Phaeochromocytoma
Medullary thyroid carcinoma
MEN 2B
Phaeochromocytoma
Medullary thyroid carcinoma (presents earlier than in MEN 2A)
Marfanoid habitus
Mucosal neuromas (yellowish lumps on lip or tongue)
b) Zollinger Ellison syndrome
*You have 1 pituitary gland and 1 pancreas
**You have 2 adrenal glands and 2 lobes of the thyroid
Conn syndrome
a) Diagnostic tests
a) - BP raised
- Hypokalaemia
- Raised aldosterone:renin ratio (ARR)
Porphyria cutanea tarda
a) Triggers
b) Presentation
c) Antibody commonly present
d) Diagnostic tests
e) Genetic cause
f) Managemen
a) COCP, fluroquinolones
b) Photosensitive bullous rash on hands/arms, pigmentation on face
c) ANA
d) Urinary porphyrins
UROD deficiency
e) Urinary porphyrinogen decarboxylase (UROD) deficiency - can be tested for
f) Venesection
Hydroxychloroquine
Hyperparathyroidism
a) Usual cause of primary
b) PTH levels
c) Indications for parathyroidectomy
d) Alternative
e) Best imaging
f) vs. familial hypocalciuric hypercalcaemia
a) Parathyroid adenoma
b) Normal-high PTH
(in normal circumstances would be suppressed in presence of hypercalcaemia)
c) - Symptoms of hypercalcaemia such as thirst, frequent or excessive urination, or constipation, or
- End-organ disease (renal stones, fragility fractures or osteoporosis), or
- Age under 50 years
- May be considered in anyone with confirmed hyperparathyroidism
d) If surgery fails/contraindicated - cinacalcet
- This works as a calcimimetic (mimics calcium, binding to calcium sensing receptor on chief cells of parathyroid gland, causing reduced PTH secretion)
e) Sestamibi nuclear uptake (Technetium) scan - good for localisation of parathyroid tumour
f) - FHH causes hyperplasia of all 4 lobes of the parathyroid gland
- Hypocalciuria in FHH - do urine calcium-creatinine ratio (in hyperparathyroidism would have hypercalciuria)
- Low calcium on spot or 24h urinary sample is virtually diagnostic of FHH
- AD-inheritance
Phaeochromocytoma
a) When to suspect phaeochromocytoma
b) Initial screening, confirmatory tests and follow-up imaging
c) Associated conditions
d) Rule of 10s
e) Management
a) - Common symptoms (PHAEO): Palpitations, headaches, abdominal or chest pain, episodic sweating, orthostatic hypotension
- Worsening of HTN or symptoms after starting certain medications*
- Adrenal incidentaloma
- Previous history of positive FHx
*Beta-blockers classically, dopamine blockers (antipsychotics, antiemetics), SSRIs
b) - Screen: Plasma free metanephrines (95% sensitivity)
- Confirm: 24h collection - creatinine, catecholamines, vanillylmandelic acid (VMA) and metanephrines (99% specificity)
Imaging:
- CT or MRI adrenals
- MIBG if CT/MRI negative (better for extra-adrenal tumours and for locating metastases)
- Avoid biopsy of lesions until hypertension controlled to avoid precipitating hypertensive crisis
c) - MEN 2A and 2B (bilateral)
- Von Hippel Lindau
- Neurofibromatosis (1% of NF)
- Sturge-Weber - port wine stain, epilepsy
d) - 10% bilateral
- 10% malignant
- 10% familial
- 10% in childhood
- 10% extra-adrenal (paraganglioma)
e) - Alpha blockade with phenoxybenzamine
- Beta-blockade after 7 days if needed
- Surgery to remove tumour
Autoimmune polyglandular syndrome type 1
a) Gene mutation and inheritance
b) 3 core features (CHA - generally at least 2 out of 3 present)
c) Diagnosis
d) Treatment
e) vs. APS type 2
a) AIRE gene (Ch 17)
- Autosomal recessive
- This is the one the Warrington guy has
b) Characterised by 2 or more of:
- Hypoparathyroidism (90%) - by age 10
- Addison’s disease (60%)
- Chronic mucocutaneous candidiasis - oral, nail, skin, genital (recurrent infections < age 2)
- Hypothyroidism
- Hypogonadism
c) AIRE gene testing
d) - Ca/vit D/PTH supplement
- Hydrocortisone/fludrocortisone
- Fluconazole
e) APS type 2:
- Multiple autoimmune conditions - Classically:
- Addison’s disease (100%) + 1 or more out of…
- Hashimoto’s thyroiditis (70%), or
- Type 1 diabetes (40%)
- May also have myasthenia, primary hypogonadism, vitiligo, pernicious anaemia, coeliac disease
Hypokalaemic periodic paralysis
a) Inheritance
b) Presentation
c) Treatment
a) Autosomal dominant
- Mutation in voltage-gated calcium channel in the muscles
b) - Periodic episodes of hypokalaemia causing symmetrical muscle paralysis
- Often triggered by rest after exercise or large meal
- In between episodes, potassium and muscles normal
- Usually presents between 15 - 35 years old
c) IV potassium during attacks
Central pontine myelinolysis
a) Presentation
b) MRI appearance
c) Pathophysiology
a) Spastic quadriparesis, anarthria
b) Bat wing appearance
c) Rapid correction of sodium leads to rapid movement of water out of neurones
Milk-alkali syndrome
a) Cause
b) Biochemistry
c) Complications
a) Chronic antacid treatment (history of dyspepsia/reflux)
b) Raised Ca (milk), raised pH (alkali)
Normal PTH, normal-high Phos, normal Vit D
c) AKI
CKD
Renal calculi
Hypercalcaemia
a) causes: CHIMPANZEES
b) malignancy causes and differentiation
C - Calcium supplements
H - Hyperparathyroidism
I - Iatrogenic (e.g. thiazides - reduce hypercalciuria so useful in hypercalciuric stones)
M - Milk-alkali syndrome
P - Paget’s disease (usually just high Alk Phos though)
A - Acromegaly, Addison’s
N - Neoplasia
Z - Zollinger-Ellison
E - Excess Vitamin A
E - Excess Vitamin D
S - Sarcoidosis
b) 80% PTHrp - causes low Phos
15% bony mets - causes high phos
SIADH
a) Diagnostic criteria (5)
a) - Euvolaemic hyponatraemia
- Low serum osmolality <270
- Inappropriately raised urine osmolality >100* (for degree of hypo-osmolar serum)
- High urinary sodium >20
- Normal adrenal, renal and thyroid function
*Primary polydipsia - very dilute urine (urine osmolality <100)
Von hippel lindau (VHL) mnemonic
H: haemangioblastoma of CNS (especially cerebellar)
I: increased risk of renal cell cancer
P: phaeochromocytoma
P: pancreatic lesions (cyst, cystadenoma, cystadenocarcinoma, neuro-endocrine tumours)
E: eye and ear dysfunction (retinal haemangioblastoma, endolymphatic sac tumours)
L: liver and renal cysts
Tuberous sclerosis - weird poem from Medicosis perfectionalis
https://www.youtube.com/watch?v=XOG_OIiPNwI
An asteroid (astrocytoma) has hit a green tree (Shagreen patches) and burned its leaves into ashes (ash leaf macules)
My brain is disabled (intellectual disability), my heart is full (rhabdomyoma), my kidneys are crying to the angels (angiomyolipoma)
Everything’s fake (phakoma), all of this just keeps adding no sebum (adenoma sebaceum) to my face
Caesar (seizures - infantile spasms) has got me, hamartin (TSC1) and tuberin (TSC2) have failed me, mum and dad have stained me (autosomal dominant). Please god, help me (no cure)
Hypoparathyroidism
a) Causes
b) What about pseudohypoparathyroidism?
a) - Parathyroidectomy (often done during thyroid surgery)
- DiGeorge syndrome
- Autoimmune polyendocrine syndrome type 1
b) - Normal PTH level but genetic resistance to PTH, causing low Ca and high Phos.
- Causes cataracts, dental problems, numbness, seizures, or tetany
- Symptoms may also include short stature, obesity, short fingers and toes, and intellectual disability
- Pseudopseudohypoparathyroidism has similar clinical features but normal PTH, Ca and Phos
Congenital adrenal hyperplasia (CAH)
a) Classical
b) Non-classical
c) Enzyme affected
d) Diagnostic test
a) Presents in infancy:
- Salt wasting (75%) - aldosterone deficiency
- Simple virilising (25%) - normal aldosterone
b) Presents in late childhood/early adulthood:
- Accelerated growth, precocious puberty
- Females: acne, amenorrhoea, PCOS
- Males: balding and infertility
c) 21- hydroxylase
d) 17-hydroxyprogesterone - high
