Dr David Kim Endocrinologist and General Physician Waitemata DHB and Apollo Specialist Clinic Albany Auckland 14:00-14:55 WS #40: Endocrine Case Studies 15:05-16:00 WS #52: Endocrine Case Studies (Repeated)
Endocrine Case Studies David Kim Endocrinologist & Physician
Disclosure Nothing to disclose relevant to this presentation (Board member of Osteoporosis New Zealand - not for profit NGO)
Case 1 33 y.o. woman presents tired 4 months history of tremors, palpitations, heat intolerance and 6kg weight loss No significant past medical history, 9 months post partum (G2P2) FHx mother had goitre needing surgery, now on thyroxine O/E: Normal BMI, peripheral tremor, HR 90/min regular, BP 130/70. Thyroid?mildly enlarged, mild tenderness/ discomfort on palpation, no obvious mass/nodule, no audible thyroid bruit
Diagnosis? DDx? probable hyperthyroidism What else would you like to know in the Hx? What are typical thyrotoxic symptoms/ signs? What tests would you order to confirm Dx? T4: 33 pmol/l (10-20), T3: 12 pmol/l (3.0-6.5), TSH: <0.01 mu/l, thyroperoxidase (TPO) antibodies raised in the 100 s
Case 1 Interim Dx: Newly diagnosed hyperthyroidism -?cause DDx : - Graves disease - Post partum or silent thyroiditis - Toxic nodular goitre Other possibilities (but highly unlikely) are: - Subacute (De Quervain s) thyroiditis - Medication/ iodine induced thyrotoxicosis
Hyperthyroidism: Further management and work-up Start carbimazole when? dose? (dose range 5 40 mg a day depending on disease severity) β-blocker when? which? dose? precautions? Repeat thyroid function testing when? Any other tests? Thyroid Stimulating Immunoglobulin (TSI)? Imaging? (e.g. neck ultrasound) Refer to endocrinology? Yes (in most), if uncertainties in initial management, call endocrinologist/ endo registrar to discuss
Hyperthyroidism/ Graves other potential management issues Intolerance to carbimazole (itchy rash most common): - oral antihistamine +/- 1% hydrocortisone cream - consider stopping and switching to propylthiouracil (PTU) If fever/ sore throat (?agranulocytosis) withhold carbimazole/ PTU and do a full blood count ASAP
Hyperthyroidism/ Graves other potential management issues Duration of carbimazole therapy? - Generally 12-18 months, usual maintenance dose ~5-15mg/day (1 2 monthly TFT s) Persistent poor control or recurrent disease: - Generally due to either very active disease or poor compliance/ inadequate dosing - Consider definitive therapy Radioactive iodine (first line Rx in toxic nodular goitre), very occasionally surgery (total thyroidectomy)
Hyperthyroidism/ Graves other potential management issues Graves orbitopathy - Consider referring directly to ophthalmology service if moderate/severe (ocular pain with swelling/redness or diplopia or marked proptosis) - Lubrication (polytears +/- lacrilube), protection (sunglasses, hat) - Smoke cessation
Subclinical hyperthyroidism Biochemical definition: Normal T4 (and T3) & suppressed TSH e.g. T4: 18.0, TSH: <0.01 Mx: Not unreasonable to retest after 1-2 months if asymptomatic with no active cardiac issues, otherwise work-up and treat like mild hyperthyroidism
Case 2 52 y.o. woman presents with tiredness. She also has low mood, few kg weight gain, irregular/ heavy menses O/E: comfortable, BMI 28, generally NAD Labs: normal FBC, U&E, LFT. TFT T4: 8.5 pmol/l (10-20), TSH 25 mu/l (0.3 4.0) Lab test 3 years ago T4: 14, TSH 5.8, thyroid antibodies TPO antibodies strongly +ve, FHx +ve for mother and sister thyroid problem on some tablets Diagnosis?? Primary hypothyroidism - Hashimoto s disease
Hypothyroidism Common problem with prevalence of 3-4% in general population Defined biochemically with low T4 and raised TSH (usually >10 mu/l) Almost always due to Hashimoto s disease Less common causes thyroidectomy, radioactive iodine Rx, medication/iodine induced (amiodarone, lithium), pituitary disease (low TSH)
Hypothyroidism Management Thyroxine 50-100mcg daily (25mcg daily in >80yrs and/or cardiac disease) Repeat TFT 5-6 weeks later to titrate dose - aim for TSH within normal range Usual maintenance dose 100-200mcg daily 6-12 monthly TSH testing once maintenance dose established?whole thyroid extract (T3 containing formulae) not funded, no evidence to support its use
Hypothyroidism other issues/ potential problems Subclinical hypothyroidism (normal T4, raised TSH) what to do and when to treat? If symptomatic, reasonable to treat at any TSH If asymptomatic, reasonable to treat if TSH >10 Intolerant to a particular brand of thyroxine (Eltroxine, Gold Shield, Synthroid) Try a different brand
Hypothyroidism other issues/ potential problems TSH still raised despite high dose (>250mcg/d) Check compliance?other meds (iron/calcium)?strong coffee Consider bedtime dosing Pregnancy TFT testing pre-conception to ensure euthyroid, dose escalation during pregnancy (typically 30-50% increase), keep TSH <2.5 (ignore TSH suppression early pregnancy), regular TFT 2-4 weekly especially in 1 st trimester, less frequent later (~monthly)
Thyroid swelling Goitre/ mass Thyroid mass or asymmetric thyroid enlargement needs proper work-up (hx, exam, TFTs) + USS imaging Symmetrical small/soft goitre often due to underlying thyroid disorder e.g. Hashimoto s or Graves. USS if no obvious cause
Large goitre Causes and work up Causes: - Multinodular goitre - Graves disease/ Hashimoto s disease - Iodine deficiency (exceedingly rare in NZ) Work-up: - Hx -?Duration?FHx?Compressive symptoms - Clinical exam, including?pemberton s sign - TFT, thyroid antibodies, thyroid USS
When to refer to Endo? Unilateral mass or enlarging goitre (get USS before referral) Goitres with compressive symptoms or significant aesthetic concern consider direct referral to surgeons (General surg vs. ORL)
Case 3: Ms EB 46 y.o. woman is tired, saw a naturopath who told her that she had adrenal fatigue and suggested various supplements including AdrenoTone PMHx of migraine, gestational hypertension No regular prescription medications, takes a few supplements (concoction of vitamins and minerals the naturopath recommended) Further history? Exam? investigations?
Case 3: Need to exclude adrenal insufficiency - other medical/ autoimmune history? - family history? - medication history?steroid use - darkening of skin? - blood pressure?postural drop
Case 3: Reports some postural dizziness with no postural BP drop noted in clinic high BP 152/100 No weight loss (in fact, struggling to lose weight), BMI = 31.1 Morning serum cortisol (9am) = 196 nmol/l (mildly low) Serum Na + and K + normal Diagnostic test = synacthen stimulation test not performed (repeat morning cortisol 410 nmol/l + above clinical features)
Refer if genuine adrenal insufficiency suspected e.g. morning serum cortisol <200 with relevant signs and symptoms (weight loss/ low BP/ postural drop/ low sodium Urgent referral to local endocrine service Admit or d/w on-call endocrine team if acutely sick/ febrile Long term management of adrenal insufficiency Hydrocortisone & fludrocortisone Medic-Alert bracelet Sick-day management
Case 4: Ms NC 43 y.o. woman with secondary amenorrhoea 9 years history Normal menarche, normal periods in teens/ 20 s, 2x normal pregnancies in her late 20 s Diagnostic possibilities? Further history and Exam? PCOS? Premature menopause? Pituitary or uterine issue (Pregnancy highly unlikely in this case!)
Case 4 History of amenorrhoea with eating disorder (nadir weight 33kg), resolved current weight 49kg close to usual adult weight, not engaging with eating disorder service as eating well. runs most days few km/d, 15km on Sunday Medication: Dexamphetamine tablets for adult ADHD Past history of depression resolved, no treatment currently Examination Well looking, Height 156cm, BMI = 20.1, blood pressure 96/63 mmhg, normal visual field
Case 4 Laboratory profile: Oestradiol <50 pmol/l Testosterone 0.6 nmol/l (normal <1.9) LH 0.7 IU/L, FSH 4.6 IU/L (low/normal) Prolactin 78 miu/l (normal) Other labs (FBC, U&E, LFT, CRP, TFT) entirely normal Diagnosis? Hypothalamic (functional) amenorrhoea
Case 4: management Efforts to gain further weight, reduce running mileage Oestrogen based treatment (rationale = bone protection + reduce low oestrogen symptoms) best evidence with transdermal oestrogen (Estradot patch), alternatively OCP or HRT type of regimen patient refused Bone density (DEXA) scan arranged
Lumbar spine T score -3.0, average total hips T scrore -2.8 FRAX 10-year hip fracture risk = 3% Diagnosis? Mx?
Case 4: Osteoporosis Mx Still refuses oestrogen but agrees to take risedronate (35mg p.o. weekly)! If she experiences dyspepsia/ significant reflux, what do we do? Other treatment options? Does she need vitamin D supplementation? What about calcium? What else would improve bone density? How long do we carry on with risedronate therapy? If repeat DEXA at 5 years shows minimal improvement what do we do then?
Case 5: Mr AE 47 y.o. NZ Pakeha male, presenting with low libido and erectile dysfunction, with slightly raised prolactin 296 miu/l (normal <240) Significant history of depression and anxiety on venlafaxine Considerable work stress (office work) no issues at home (2 teenage kids, good relationship with wife) Intermittent headaches, some degree of insomnia DDx? Futher history and exam?
Case 5 No other significant medical or pertinent family history Non smoker, non drinker, no recreational drugs Good appetite stable weight Blood test: - Prolactin mildly raised at 278 miu/l - Total testosterone mildly low at 7.7 nmol/l, with LH 2.9 and FSH 8.2 (within normal limits) - Other tests, including FBC, U&E, LFTs, TFT, cortisol, PSA normal
Case 5 Appears comfortable, normal male secondary sexual characteristics, raised BMI =30 Visual field normal on confrontation, testes normal volume but firm mobile lump superior aspect of L testis Testicular USS L epididymal cyst (1cm) MRI scan of the pituitary entirely normal Repeat morning testosterone 4.7 and 6.9 nmol/l
Case 5 Testosterone replacement (Reandron 1000 injection) started Referred to sleep clinic (history of loud snoring, high BMI, some daytime somnolence) For repeat PSA, FBC, review of possible OSA symptoms in 3-4 months
Thank you Questions?