1. Bisphosphonates 2. If not tolerated, then denosumab (RANK ligand inhibitor, 6 monthly injection) 3. Teriparatide alternative to densumab but daily injection 4. Raloxifene (not as effective as the ones above but reduces Breast Ca risk) 5. Strontium ranelate last because increase DVT risk
MODY gene defects
MODY 2 and 3 most common 2 -> glucokinase mutations 3 -> HNF alpha mutation, very responsive to sulfonylurea
Turner Syndrome karyotype and presentation
XO karyotype. Short stature, borderline hypertension, short neck, low set ears, primary amenorrhoea + other congenital abnormaltieis, such as horseshoe kidney or bicuspid aortic valve
Absent sense of smell due to lack of development of olfactory bulb
Bilateral undescended testis associations
XY karyotype but androgen insensitivity syndrome. Female external genitalis
Klinefelter Syndrome karyotype and presentations
XXY karyotype. Male genitalia (small testis), low testosterone and toruble entering sexual relationship
HRT in woman with amenorrhoea for less than 1 year
sequential rather than continuous (if no risk factors for breast cancer)
Abnormal anion gap indicators
([Na+]+ [K+]) –([Cl–]+ [HCO3–]) A normal value is 3-16 High anion gap: KARMEL Ketones Aspirin (and paracetamol, and other toxins) Renal Failure Methanol Ehylene Glycol Lactate Normal anion gap acidosis: Diarrhoea Renal tubular necrosis High volume IV saline Addisons
Solitary toxic nodule treatment
Treatment dose radioiodine for those who finished family PArtial thyroidectomy for those where radioiodine is CI (e.g. small children)
First line treatment in Paget's
IV zoledronate now over oral risedronate
In DKA, what product is kept in the body longest?
Acetone, acetoacetate and beta-hydroxybutyrate formed. Only acetoacetate levels do not drop rapidly.
What does hashimoto's put you at an increased risk of?
60x risk of thyroid lymphoma. Rapidly enlarging mass with blurred margins USS and biopsy are the appropriate next steps
Diagnostic testing in Cushings
Phase 1 Screening tests: a) raised free urinary cortisol (easiest) b) overnight low dose dexamethasone suppression test c) salivary late night cortisol Phase 2 diagnostic test: 48 hour dexamethsone suppresstion test and measurement of serum ACTH levels ACTH should be suppressed in adrenal disease Phase 3: If ACTH stayed high on 48hr testing, now need to differentiate between ectopic source or pituitary. Do high dose test -> if manipulation of ACTH levels then likely pituitary.
Hormone under constant inhibition?
Prolactin is under constant inhibition from dopamine
What treatment can worsen graves' opthalmopathy?
Radioiodine, unclear mechanism Prednisolone can be used for decompensated graves eye disease
Hypoparathyroidism and pseudo(pseudo)hypoparathyrodissm
HypoPTH: normal renal function in light of hypocalcemia, hyperphosphataemia and low PTH -> congenital will present with short stature, chronic muscle pain and weakness
Pseudo-> resistance to PTH so PTH levels will be high.
Types of hyperparathyroidism
Biochemical picture hyperparathyroidism
Classical congenital adrenal hyperplasia presentation vs non-classical
CCAH: Normal pubic and axillary hair but ambigious genitalia/clitoromegaly and salt wasting in extreme cases
NCCAH: precocious puberty and androgenisation/subfertility in later years. No salt wasting
Lithium and thyroid
Lithium often causes hypothyroid within 2 years of starting. Start thyroxine and continue lithium
Thyroid eye disease tx
DPP4 is used when BMI is obese
SGLT2 is used when heart failure
If triple therapy fails, consider use of GLP-1 mimetic or insulin based treatment
Types of MODY
Diagnosis of diabetes
1st line for prolactinoma
Octreotide used in...?
it's somatostatin analogue and is used in acromegaly and carcinoid syndrome
MDMA OD hyperthermia tx how?
Mechanical cooling measures
Dantrolene used in malignant hyperthermia
Primary hyperaldosteronism blood pressure control
Spironolactone (aldosterone antagonist)
Rare metabolic diseases and their gene defects