Week 128 - Summary of Endocrine Diseases Flashcards
Hyperthyroidism - Symptoms, Investigations, Treatment
Symptoms: hyperactivity, palpitations, sensitivity to heat, weight loss, sweating
Investigations: ↑T4,T3, ↓TSH
Treatment: Carbimazole, Radioactive iodine or thyroid surgery
What is Phaeochromocytoma - Symptoms, Investigations, Treatment
Tumour producing catecholamines
Symptoms: Hypertension, sweating, tachycardia, headaches
Investigations: Urinary catecholamines and metabolites (>2 fold). MRI/CT/MIBG to localise the tumour
Treatment: α-blockers (phenoxybenzamine), β-blockers (propranolol), high-salt diet + surgery
What is Cushing’s Syndrome - Symptoms, Investigations, Treatment
↑Cortisol, ↑ACTH (ectopic ACTH production)
Symptoms: lemon on a stick, red round face, high blood sugar, poor wound healing, high BP, thin skin, hirsutism, depression, fatigue
Investigations: Dexamethasone suppression test
Treatment: Metyrappone (cortisol synthesis inhibitor), surgery
What is Cushing’s Disease- Symptoms, Investigations, Treatment
↑ Cortisol, ↑ACTH (pituitary is responsible)
Symptoms: lemon on a stick, red round face, high blood sugar, poor wound healing, high BP, thin skin, hirsutism, depression, fatigue
Investigations: Dexamethasone suppression test
Treatment: Metyrappone (cortisol synthesis inhibitor), surgery
What is Non-ACTH-dependent Cushing’s - Symptoms, Investigations, Treatment
↑ Cortisol, ↓ACTH (excess endogenous cortisol secretion)
Symptoms: lemon on a stick, red round face, high blood sugar, poor wound healing, high BP, thin skin, hirsutism, depression, fatigue
Investigations: Dexamethasone suppression test
Treatment: Metyrappone (cortisol synthesis inhibitor), surgery
What is Conn’s syndrome? Symptoms, Investigations, Treatment
Excess aldosterone secretion - tumour
Symptoms: Hypertension, Hypokalaemia, metabolic acidosis
Investigations: ↓plasma renin, ↑aldosterone
Treatment: Adrenalectomy, low sodium diet and spironolactone
What is Addison’s Disease? Symptoms, Investigations, Treatment
Primary adrenal insufficiency caused by autoimmune disease or TB
Symptoms: Pigmentation, general malaise, nausea, vomiting, hypoglycaemia, postural hypotension, weight loss
Investigations: Hyperkalaemia, hyponatraemia, hypoglycaemia, elevated ACTH, inadequate synacthen response
Treatment: Hydrocortisone and Fludrocortisone
What is Congenital Adrenal Hyperplasia? Symptoms, Investigations, Treatment
Excess androgen production (reduced aldosterone)
Commonly 21 hydroxylase deficiency
Symptoms: salt-wasting, short-stature, impaired fertility
Investigations: elevated 17-α hydroxyprogesterone before and after synacthen stimulation
Treatment: Dexamethasone, oestrogen, cyproterone (adults)
Fludrocortisone and hydrocortisone
Primary Hyperparathyroidism - Symptoms, Investigations, Treatment
↑PTH, ↑Ca (adenoma/hyperplasia)
Symptoms: Generally asymptomatic; tiredness, muscle weakness, dehydration, anorexia, nausea, vomiting, polyuria, mental confusion, cardiac arrhythmias, kidney stones (Stones, moans, groans)
Investigations: ↑PTH, ↑Ca, ↑ urinary Ca, ↓PO4
Treatment: surgery
Secondary Hyperparathyroidism - Symptoms, Investigations, Treatment
↑PTH, ↓Ca
Symptoms: Generally asymptomatic; tiredness, muscle weakness, dehydration, anorexia, nausea, vomiting, polyuria, mental confusion, cardiac arrhythmias, kidney stones (Stones, moans, groans)
Investigations: ↑PTH, ↑PO4
Treatment: surgery
Tertiary Hyperparathyroidism - Symptoms, Investigations, Treatment
↑PTH, ↓Ca
Symptoms: Generally asymptomatic; tiredness, muscle weakness, dehydration, anorexia, nausea, vomiting, polyuria, mental confusion, cardiac arrhythmias, kidney stones (Stones, moans, groans)
Investigations: ↑PTH, ↓PO4
Treatment: surgery
What is Malignant Hypercalcaemia?
Malignancy results in ↑osteoclast bone resorption
Symptoms: Generally asymptomatic; tiredness, muscle weakness, dehydration, anorexia, nausea, vomiting, polyuria, mental confusion, cardiac arrhythmias, kidney stones (Stones, moans, groans)
Investigations:↑Ca, ↓PO4
Treatment: Treat malignancy
Hypomagnesaemia - Symptoms, Investigations, Treatment
↓Mg -> ↓PTH -> ↓Ca, ↓K
Symptoms: ↑neuromuscular excitability, tingling, tetany, prolonged QT, cataracts
Investigations: ↓Mg, ↓Ca, ↓K
Treatment: Oral/IV Mg
Pseudohypoparathyroidism - Symptoms, Investigations, Treatment
Resistance to PTH ( Gα deficiency)
Symptoms: Albright’s Hereditary Dystrophy (short, round face and neck, short metacarpals)
Investigations: ↑PTH, ↓Ca, ↑PO4, deficient in cAMP response to PTH
Treatment: Vitamin D
Osteomalacia - Symptoms, Investigations, Treatment
Caused by vitamin D deficiency
Symptoms: bone fractures, myopathy
Investigations: ↑PTH, ↓Ca, ↓PO4, ↓vitD
Treatment: Vitamin D
Hypoparathyroidism - Symptoms, Investigations, Treatment
↓Ca
Symptoms: ↑neuromuscular excitability, tingling, tetany, prolonged QT, cataracts
Investigations: ↓PTH, ↓Ca, ↑PO4
Treatment: vitD, oral calcium
Primary Hypogonadism in men - Symptoms, Investigations, Treatment
Androgen deficiency and/or impaired sperm production
Symptoms: Small testes, gynacomastia, infertility, reduced libido, reduced hair, osteoporosis, eunochoid body proportions
Investigations: ↓testosterone, ↑LH and FSH
Treatment: testosterone replacement, infertility treatment, phosphodiesterase type V inhibitors
Foetal Androgen Deficiency - Symptoms, Investigations, Treatment
Testosterone deficiency/resistance
Symptoms: phenotypically female, primary amenorrhoea
Investigations: male testosterone levels, XY chromosomes
Treatment: Orchidectomy (testes removed), oestogen replacement
PCOS - Symptoms, Investigations, Treatment
Androgen excess from ovary
Symptoms: ovarian dysfunction from puberty, hirsutism, acne
Investigations: ↑LH:FSH ratio, U/S polycystic ovaries, elevated testosterone levels
Treatment: Metformin, oral oestrogen/progesterone, infertility treatment
Precocious puberty - Symptoms, Investigations, Treatment
Rare in boys. Oestrogen secretion before 7-8 yrs in girls
Symptoms: Early onset of puberty
Investigations: LH, FSH, Bone age
Treatment: LHRH down regulates LH and FSH secretion
Premature Ovarian Failure - Symptoms, Investigations, Treatment
Hypergonadotropic Amenorrhoea (<40 yrs)
Symptoms: Amenorrhoea for 6 months, night sweats
Investigations: ↑FSH (x2)
Treatment: Oestrogen replacement
Name the types of autoimmune hypothyroidism
Hashimoto’s thyroiditis - formation of goitre, TPO antibodies present
Postpartum thyroiditis - usually a transient phenomenon observed following pregnancy. It may cause hypo/hyperthyroidism or the two sequentially
What is the most common cause of Hyperthyroidism?
Grave’s disease - autoimmune (IgG to TSH receptors in the thyroid) -> stimulating thyroid hormone production
Many show relapse + remission -> may become hypothyroid eventually
What is the treatment for hyperthyroidism?
Carbimazole (inhibit thyroid hormone production), propranolol for symptomatic control, Radioactive iodine, surgery
What is Kallmann’s syndrome?
Isolated GnRH deficiency
Associated with anosmia, colour blindness
What is Secondary Hypoadrenalism?
Hypothalamic-pituitary problem
low/abnormally normal ACTH
