Endocrine Flashcards
Primary ammenorhea
Failure to establish menstruation by the time of expected menarche
Secondary ammenorrhoea
Cessation of menstruation in women with previous menses
Definition of oligomenoorhoea
Menses occuring less frequently than < 35 days
Causes of primary amenorrhoea in those with normal secondary sexual characteristics
Constituional delay
Pregnnacy
GU malformations
- imperforate hymen
- transverse septum
- absent vagina or uterus
Endocrine
- hypothyroidism
- hyperthyroidism
- hyperprolactinaemia
- cushings
- PCOS
Androgen insensitivity syndrome
Causes of primary ammenorhoea in those with no secondary sexual characteristics
POI
- chromoosomal irregularities (e.g. turners and gonadal agensis)
- chemotherapy
- pelvic irridation
- autoimmune disease
hypothalamic dysfunction
- stress / execive exercise / weight loss
- chronic systemic illness (uncontrolled DM, severe renal and cardiac disorders, coeliac, cancer, infection)
- hypothalamic or pituitary tumours
- cranial irridation
- head injury
- kallmans syndrome
Causes of ambigious genitalia
5-alpha-reductase deficiency
androgen secreting tumours
congenital adrenal hyperplasia
WHat is sheehans syndrome
Pituitary infarction after major obstetric haemorrhage
Pathology of T2DM
Peripheral insulin resistance (exists in overweight individuals)
Inadequate insulin secretion by pancreatic B cells
Decreased glucose transport into cells, causing hyperglycaemia
If you suspect LADA (latent autoimmune diabetes in adults) what do you measure
Islet cell antibodies
Impaired fasting glucose
> 5.6 but < 7
Impaired glucose tolerance
2hr post OGTT value of 7.8 - 11.1
HbA1c diagnostic of T2DM
> 48
HbA1c of pre diabetes
> 42
Examples of autonomic neuropathy
Postural hypotension
gastroporesis
Gustatory sweating
What is assosiated with more severe symptoms of exopthalmos
Smoking
Risk factors for thyroid eye disease
Genetics
Female
Smoking
Radioiodine therapy
Advanced age
Stress
Poorly controlled hypothyrodisim
What is secondary hyperthyroidism usually secondary to
A TSH secreting tumoura
What is subclinical hyperthyroidism
T3 AND T4 normal
TSH is supressed
Most common cause of thyrotoxicosis
Graves disease
Management thyrotoxicosis
Drugs
- carbimazole
- prophythiouracil
- CCBs
- BBs
Radioiodine therapy
Partial or total thyroidectomy
What is the most common cause of thyrotoxicosis in people over 60
toxic multinodular goitre
WHat can cause subclinical thyrotoxicosis
Thyroxine excess
Steriod therapy
Non thyroidal illness
Dopamine infusion
Autoantibodies in thyrotoxicosis
TSH receptor Abs
Antithyroglobulin abs
Antimicrosomal abs (75% graves disease)
What is proximal neuropathy in DM?
Patients develop severe burning/aching and lancinating pain in the hip and thigh
Followed by weakness and wasting of the thigh muscles, which often occur asymmetrically
Antibodies of hashimotos
Antithyroid microsomal
Antithyroglobulin antibodies
Treatment of graves in early vs late pregnancy
early - propothiouracil
late - carbimazole
What is urinary 5HIAA used to indicate
Neuroendocrine (carcinoid) tumours
Metabolic acidosis
Low Ph
Low HCO3
Metabolic alkalosis
High Ph
High HCO3
Respiratory acidosis
Low pH
higher PCO2
Respiratory alkalosis
High pH
Low PCO2
What is the anion gap
Sodium - (Chloride + Bicarb)
Normal anion gap
8-12
What does an anion gap of >20 indicate
an anion gap acidosis
What does an anion gap of 12 - 20 indicate
MAYBE an anion gap acidosis
Causes of non anion gap metabolic acidosis
Acute or chronic kidney disease
Renal tubular acidosis
GI loss
Causes of anion gap metabolic acidosis
Methanol intoxication
Uraemia
DKA
Paraldehyde
Isoniazid or iron overdose
Lactate
Ethylene glycol intoxication
salicylate overdose
Causes of chloride responsive metabolic alkalosis (i.e. will correct with NaCl)
Severe HF
Vomiting / NG suction
Loop and thiazide diuretics
Causes of chloride unresponsive metabolic alkalosis
primary hyperaldosteronism
Barter syndrome
Cushings syndrome
Depletion of magnesium
Causes of respiratory acidosis
Hypoventilation (accumulation of PCO2) due to problems with ventilation
Caues of respiatory alkalosis
Hyperventilation
What is pre proliferative diabetic retinopathy defined by
Cotton wool spots
Venous changes
Intra retinal vascular abnormalitie
WHat does background retinopathy comprise of
Haemorrhages
Hard exudates
Micro haemorrhages
What is proliferative diabetic retinopathy defined by
Retinal neovascularisation at the disc or elsewhere
What are the earliest lesions detected in diabetic retinopathy
Microaneurysms
Treatment of diabetic foot ulcer
Non removeable casting
To offload pressure
Diagnostic features of HHS
Glucose > 30
Serum osmolality >320
Profound dehydration
ph >7
Bicarb > 15
Small or absent ketonuria
Some alteration in consciousness
May also cause
Neurological signs
Hyperviscosity/increased risk of clots
When is PTH secreted
In response to low calcium
What is secondary hyperparathyroidism usually caused by
CKD
Low vit D
What is tertiary hyperparathyroidism usually caused by
Longstanding CKD
Features of hypercalcaemia
Weakness
Mood instability
Dehydrated
Abdominal pain
Cause of raised prolactin levels
Prolactin secreting pituitary tumour
Hypothyroidism
Acromegaly
Presentation of raised prolactin
Galactorrhoea
Ammenorhoea
What is the most common cause of hypercalcaemia in patients with non metastatic solid tumours and in some patients with NHL?
Secretion of parathyroid hormone related protein
Also called humeral hypercalcaemia of malignancy
Mutation of MEN1
mutation in MENIN gene
MEN1 predisposes patients to what
Pancreatic neuroendocrine tumours
Primary hyperparathyroidism (due to 4 gland hyperplasia)
Pituitary adenomas
Benign skin tumours - angiofibromas
High urinary calcium excretion
What do 80% of patients with MEN1 present with?
Hypercalcaemia due to hyperparathyroidism
Inheritance of familial hypocalcuiric hypercalcaemia and pathology
AD
Defect in the calcium sensing receptor
Features of familial hypocalcuric hypercalcaemia on investigation
Slightly elevated calcium and PTH levels
Urinary calcium excretion low
Mutation of MEN2a
RET gene
What does patients with MEN2a present with
Primary hyperparathyroidism (due to pituaitary adenoma)
Medullary thyroid cancer
Phaechromocytoma
What is pseudohyperparathyroidism and blood findings
Rare condition
caused by resistance to PT hormone
Results in low phosphate and calcium levels
High PTH
Treatment of prolactinoma
Dopamine agonists (usually cabergoline)
Diagnosis of cushings
1mg overnight dexamethasone suppression test
two midnight salivary cortisol levels
two 24 hr urinary free cortisol levels
Treatment of mild symptomatic subacute thyroiditis
Propranolol
NSAIDs
Presentation of subacute (De Quervians) thyroiditis
Mod-severe pain in thyroid often radiating to ears, jaw and throat
Several weeks Hx
Malaise
Low grade fever
What comes before subacute / de quervians thyroiditis
A viral illness
What is cranial Diabetes insipidus common after
Head injury
Presentation of cranial diabetes insipidus
Polyuria
Polydipsia
Hypernatraemia
NORMAL glucose
Two classes of diabetes inspidius
Cranial
Nephrogenic
Common causes of nephrogenic DI
Electrolyte derangements (hypercalcaemia, hypokalaemia)
Lithium
Diagnosis of diabetes inspidius
Water deprivation test
Treatment of cranial DI
Treating underlying cause
Ensuring adequate hydration
Sometimes high doses of DDAVP
Treatment of nephrogenic DI
Treating underlying cause
BFM may be trialled
Initial water deprivation test results in cranial DI
High plasma osmolality
Low urine osmolality
Urine osmolality post DDAVP in cranial DI
High > 600
Initital water deprivation test results in nephrogenic DI
High plasma osmolality
Low urine osmolality
Urine osmolallity post DDAVP in nephrogenic DI
Low urine osmolality
What is MEN1 assosiated with?
THE PS
Parathyroid tumours
Pitutary tumours
Pancreas tumours
Angiofibromas
What is MEN2a assosiated with
Parathyroid tumour
Phaechromocytoma
Medually thyroid cancer
WHat is Men 2b assosiated with
Phaechromocytoma
Medullary thyroid cancer
Marfanoid appearance
Mucosal neuromas
What is important in MEN2
Prophylactic Thyroidectomy
Genetics of MEN1
Defect in tumour suppressor gene
Menin gene
Chromosome 11
AD
10% of cases are sporadic
Genetics of MEN2
Mutations are rearranged during transfection (ret) proto-oncogene
AD
Defect in tumour supressir gene
Chromosome 10
What can both MEN syndromes be assosiated with
hypercalcaemia
Investigation for phaechromocytoma
24 hr urine catecholamines
Vanillymandelic acid
MIGB scan
MRI
What do medually thyroid cancers cause
Elevated calcitonin
Genetics of MODY
HNF1 alpha mutation
What cells does MODY affect
Beta cells of the pancreas
Delta cells of the pancreas prodcue what
somatostatin
Features of Batters syndrome
Increased urinary calcium excretion
Hypokalaemia
Metabolic alkalosis
Raised RAAS levels
What does secondary hyperparathyroidism occur from
CKD
Investigation for cushings
Overnight low dose dexamethsone suppression test
Presentation of porphyria cutanea tarda (PCT)
Hyperpigmentation and scarring
Blisterign and crusted lesions on back of hands and other areas that are prone to sun exposure
Hypertrichosis
Dark or reddish urine
Scarring alopecia
Oesotrens can precipitate development
Investigation findings of PCT
Substantial increase in porphyrins in plasma or urine
Assay of red bloods cells for UROD activity
Where is metformin metabolised
Liver
What drug can worsen thyroid eye disease
RAI
Treatment of amoidarone induced thyrotoxicosis
Proprothiouracil
+/- steriods if mixed picture
Diagnosis with hypercalcaemia and low urinary calcium excretion
Familial hypocalcuric hypercalcaemia (FHH)
Treatment of FHH
None
What does failing to concentrate urine post water deprivation test indicate
Diabetes insipidus
Diagnosis of insulinoma
Low glucose
High insulin
High C peptide
In weight restricted adults, what hormone is often high and why
Cortisol
Permanent state of physical stress on the body related to starvation or catabolic state
Pathology of hypercalcaemia in patients with carcinomas which are non metastatic
Secretion of parathyroid hormone related peptide by the tumour
Features of anaplastic thyroid carcinoma
Hard
Rapidly evolving
Regional lymphadenopathy
Stridor due to tracheal compression
What is the medical term for someone with a low BMI who has ammenorrhoea
Functional hypothalamic ammenorhoea (FHA)
Management of symptoms of hyperadrogenism in PCOS
co-cyprindiol
Features of androgen insensitvity syndrome
External female genitalia
Testes remain undescended
They do not menstruate at all
LH:FSH ratio in PCOS
Elevated