Week 128 - Summary of Endocrine Diseases

Question 1

Hyperthyroidism - Symptoms, Investigations, Treatment

Answer 1

Symptoms: hyperactivity, palpitations, sensitivity to heat, weight loss, sweating
Investigations: ↑T4,T3, ↓TSH
Treatment: Carbimazole, Radioactive iodine or thyroid surgery

Question 2

What is Phaeochromocytoma - Symptoms, Investigations, Treatment

Answer 2

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

Question 3

What is Cushing’s Syndrome - Symptoms, Investigations, Treatment

Answer 3

↑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

Question 4

What is Cushing’s Disease- Symptoms, Investigations, Treatment

Answer 4

↑ 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

Question 5

What is Non-ACTH-dependent Cushing’s - Symptoms, Investigations, Treatment

Answer 5

↑ 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

Question 6

What is Conn’s syndrome? Symptoms, Investigations, Treatment

Answer 6

Excess aldosterone secretion - tumour
Symptoms: Hypertension, Hypokalaemia, metabolic acidosis
Investigations: ↓plasma renin, ↑aldosterone
Treatment: Adrenalectomy, low sodium diet and spironolactone

Question 7

What is Addison’s Disease? Symptoms, Investigations, Treatment

Answer 7

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

Question 8

What is Congenital Adrenal Hyperplasia? Symptoms, Investigations, Treatment

Answer 8

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

Question 9

Primary Hyperparathyroidism - Symptoms, Investigations, Treatment

Answer 9

↑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

Question 10

Secondary Hyperparathyroidism - Symptoms, Investigations, Treatment

Answer 10

↑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

Question 11

Tertiary Hyperparathyroidism - Symptoms, Investigations, Treatment

Answer 11

↑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

Question 12

What is Malignant Hypercalcaemia?

Answer 12

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

Question 13

Hypomagnesaemia - Symptoms, Investigations, Treatment

Answer 13

↓Mg -> ↓PTH -> ↓Ca, ↓K
Symptoms: ↑neuromuscular excitability, tingling, tetany, prolonged QT, cataracts
Investigations: ↓Mg, ↓Ca, ↓K
Treatment: Oral/IV Mg

Question 14

Pseudohypoparathyroidism - Symptoms, Investigations, Treatment

Answer 14

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

Question 15

Osteomalacia - Symptoms, Investigations, Treatment

Answer 15

Caused by vitamin D deficiency
Symptoms: bone fractures, myopathy
Investigations: ↑PTH, ↓Ca, ↓PO4, ↓vitD
Treatment: Vitamin D

Question 16

Hypoparathyroidism - Symptoms, Investigations, Treatment

Answer 16

↓Ca
Symptoms: ↑neuromuscular excitability, tingling, tetany, prolonged QT, cataracts
Investigations: ↓PTH, ↓Ca, ↑PO4
Treatment: vitD, oral calcium

Question 17

Primary Hypogonadism in men - Symptoms, Investigations, Treatment

Answer 17

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

Question 18

Foetal Androgen Deficiency - Symptoms, Investigations, Treatment

Answer 18

Testosterone deficiency/resistance
Symptoms: phenotypically female, primary amenorrhoea
Investigations: male testosterone levels, XY chromosomes
Treatment: Orchidectomy (testes removed), oestogen replacement

Question 19

PCOS - Symptoms, Investigations, Treatment

Answer 19

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

Question 20

Precocious puberty - Symptoms, Investigations, Treatment

Answer 20

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

Question 21

Premature Ovarian Failure - Symptoms, Investigations, Treatment

Answer 21

Hypergonadotropic Amenorrhoea (<40 yrs)
Symptoms: Amenorrhoea for 6 months, night sweats
Investigations: ↑FSH (x2)
Treatment: Oestrogen replacement

Question 22

Name the types of autoimmune hypothyroidism

Answer 22

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

Question 23

What is the most common cause of Hyperthyroidism?

Answer 23

Grave’s disease - autoimmune (IgG to TSH receptors in the thyroid) -> stimulating thyroid hormone production
Many show relapse + remission -> may become hypothyroid eventually

Question 24

What is the treatment for hyperthyroidism?

Answer 24

Carbimazole (inhibit thyroid hormone production), propranolol for symptomatic control, Radioactive iodine, surgery

Question 25

What is Kallmann’s syndrome?

Answer 25

Isolated GnRH deficiency

Associated with anosmia, colour blindness

Question 26

What is Secondary Hypoadrenalism?

Answer 26

Hypothalamic-pituitary problem

low/abnormally normal ACTH