Endocrine Flashcards
What is the most common cause of thyrotoxicosis?
Graves’ disease is the most common cause of thyrotoxicosis. Only 30% of patients with Graves’ disease have eye disease
What % of patients with Graves’ disease have eye disease
Only 30% of patients with Graves’ disease have eye disease
@Hypo: hormonal response = ??
@Hypo: hormonal response = 1. decreased insulin secretion 2. INCreased glucagon secretion 3. GH and cortisol are also released but later.
@Addison’s = cortisol low - - > ??
Hence the what test?
@Addison’s = cortisol low - - > hypoglycaemia. Hence the insulin tolerance test i.e. Give insulin - - > induce hypoglycaemia - - > inadequate rise in serum cortisol #adrenalinsufficiency
Incretins eg GLP1 = stimulate ??
Incretins eg GLP1 = stimulate a decrease in blood glucose, esp after eating.
Pioglitazone works how? Side effects?
PPAR-gamma AGonists = reduce peripheral insulin resistance = BFFFL - bladder ca, fatness, fluid retention, fractures, LFTs deranged
PID: Ix and tx?
PID: hcg, high vag swab - > metro + (ofloxacin/IM ceft+doxy)
What is dynamic pit function test?
“dynamic pituitary function test = give pt:
Dopamine blocker = metoclop - > Prolactin measured #hyperprolactin
LHRH - > FSH/LH recorded at reg intervals
Insulin - > BM, cortisol + GH
TRH - > TSH”
which tabs = reduce LTx absorption? How many hrs apart?
Fe/CaCO3 tabs = reduce LTx absorption - - > give 4 hrs apart!!
short fourth and fifth metacarpals, short stature
cognitive impairment, obesity
Pathphys? Types?
PseudohypoPT “G-prot mutation - > target cell insensitivity to PTH - > (high PTH -> low Ca + high PO4)
T1 = cell receptor fucked &
T2 = cell receptor fine.”
RAI - > ??
RAI - > ppt thyroid eye disease & need LTx
lack of smell (anosmia) + delayed puberty”
Pathphys??
“XrKallmann’s = GnRH neurons fail to migrate to the hypothalamus - >
hypoGnRH hypogonadism - >
lack of smell (anosmia) + delayed puberty”
pretibial myxoedema is associated with ??
pretibial myxoedema is associated with thyrotoxicosis Graves only!!
Hypothyroid skin sx?
Hypothyroid: OedemaNP, Lat eyebrow loss, Xanthomata and other standard stuff
Hyperthyroid: skin sx?
Hyperthyroid: pretib myxoed, acropachy, sweating, thinning hair
“Amiodarone high iodine content - - > ?effect
Pathphys? How manage?
“Amiodarone high iodine content of - - > Wolff-Chaikoff effect= high iodide - > autoreg phenomenon where thyroxine-prod stopped = hypothyroid - >
cont amiodarone + start LTx”
Amiodarone Ind Thyrotoxicosis Type 1 - > pathphys? sx? tx?
Amiodarone Ind Thyrotoxicosis Type 1 - > XS thyroid hormone #goitre - > Carbimazole/KPerchlorate
Amiodarone Ind Thyrotoxicosis Type 2 - > pathphys? sx? tx?
Amiodarone Ind Thyrotoxicosis Type 2 - > thyroid destroy - > csteds
Acromegaly tx?
“Trans-sphenoidal surg/ext irrad @oldies
Octreotide=somatostatin stops GH release #adj to surg / bromocript-dop ag used too
Pegvisomant-GH receptor blocker-> dec IGF”
“Acromegaly 1st line Ix:
??
“Acromegaly 1st line Ix:
Serum IGF-1 w/ serial GH measurements –>
if IGF1 high - - >
OGTT to confirm i.e. norm/high GH - - > MRI”
Patients with acromegaly have an increased incidence of ??bowel issue
Patients with acromegaly have an increased incidence of colorectal polyps and carcinoma
The Incretin effect:
?? mediated by?
In T2DM, this is less or more so? Side effects? how to stop GLP1 its breakdown?
“The Incretin effect:
oral glucose load - - > greater insulin release
IV glucose load - - > less insulin release #incretineffect=mediated by GLP-1.
In T2DM, this is less, so give pts more GLP1 #N&V+pancreatitis or stop its breakdown (DPP4igliptins!!)”
DI: cranial: causes?
DI: cranial: Craniopharyngioma, heamachromatosis, histiocytosis X, Head injury, idiopathic, pit surg, DIDMOAD
Nephrohenic di causes?
Nephrohenic: demeclocycline, lithium, high Ca low K, ADH receptor dx/aquaporin
During Ramadan, how much of the normal metformin dose should be taken before sunrise and sunset?
During Ramadan, one-third of the normal metformin dose should be taken before sunrise and two-thirds should be taken after sunset
Sweet’s syndrome aka??
Sweet’s syndrome is also known as acute febrile neutrophilic dermatosis has a strong association with acute myeloid leukaemia
“Thyroid eye dx=
common in?
worsenened by?
“Thyroid eye dx=
hyperthyroid>euthyroid/hypothyroid
RAI and smoking worsen it!!
Keratopathy = inability to close eyelids, dry and sore”
“Urgent opthal r/v in thyroid eye dx?
“Urgent opthal r/v:
Vision fucked, sublux, intensity/colour vision change, corneal opacity, eyelid close still see cornea, disc swell”
SGLT2iflozins prevent work how?
SGLT-2iflozins are recognised to increase?
SGLT2iflozins can cause???
SGLT2iflozins prevent glucose resorption from proximal tubule - - > glucose secreted in urine.
SGLT-2iflozins are recognised to increased total cholesterol,
SGLT2iflozins can cause euglycaemic DKA@
“Csted scale?
"Csted scale: Fludro - high mineral, low glucocort Hydro Pred Dexa/betameth highglucocort, low mineralo"
HbA1c should be checked how often?
HbA1c should be checked every 3-6 months until stable, then 6 monthly’.
MEN diseases??
"Panc/pit Para Para Phaeo Phaeo Med Med Ret Ret Marfinoid/neuroma"
what drugs can cause leucopenia?
what drugs can cause neutrophilia?
Amlodipine and bendroflumethiazide can cause leucopenia
Glucocorticoid treatment can induce neutrophilia
Demargination+delayed migration of neuts
Release of immature neutrophils from bone marrow
“Bact infection = what shift’?
With steds use does ‘left shift’ occur?
“Demargination+delayed migration of neuts
Release of immature neutrophils from bone marrow
““Bact infection = incr ‘left shift’
neuts are produced and consumed at an equal rate.
With steds use, ‘left shift’ not occur cos inc production and release of neuts from bone marrow but no neut consumption.”””
in preg when PTU given then stopped? what is ptu assoc with?
PTU @ T1 then T2, woman should switch back to carbimazole, as PTU assoc w/ hepatic injury.
delayed puberty’
hypogonadism, cryptorchidism
anosmia
sex hormone levels are low
LH, FSH levels are inappropriately low/normal
normal or above average height
-biochem?
Kallman’s - LH low; FSH low-normal, low test
“tall guys with small balls and tits.”
biochem?
karyotype? phenotype?
“Klinefelter’s - LH & FSH raised, low test
47, XXY, tall guys with small balls and tits.”
Thyrotoxic storm is treated with ??
Thyrotoxic storm is treated with beta blockers, Lugol’s iodine, propylthiouracil and hydrocortisone/dexamethasone - e.g. 4mg IV qds - blocks the conversion of T4 to T3
“High prolactin:
symptoms?
Ax??
"High prolactin: galactorrhoea both men women, amenorrhoea, impotence, libido loss Ax: preg/oestrogens prolactinoma/acromegaly physiological PCOS primary hypoT phenothiazines, metoclop, domperidone"
SGLT2i work how? - - > cx??
SGLT2i prevent glucose resorption from the proximal renal tubule - - > pee glucose in urine = lead to bact growth #CI @ Thrush!!
Menstruation?
“Follicles: primordial, primary, secondary, tertiary
1. Menstruation d1-4 - > mucus is thick and forms a plug across the external os
- Follicular phase (endomet prolif phase) d5-13
FSH peak - - >follicle development - - > oestradiol peak so body temp falls - - > LH peak - - > ovulation
mucus = clear, acellular, low viscosity, ‘stretchy’ spinnbarkeit just b4 ovulation - Ovulation d14
Tertiary follicle - - > corpus luteum, albicans, degraded:
4. Luteal phase (endomet secretory phase-Prog secreted by the corpus luteum following ovulation so body temp rises - if fertilisation not occur, corpus luteum degenerate and pro fall) d15-28”
“PCOS pathphys?. how to improve this?
risk of anti-oestrogen therapies i.e. clomifene?
how work?
“PCOS - - >insulin resistance - - > changes in the hypothalamic-pituitary-ovarian axis. Give metformin to Inc periph insulin sensitivity
risk of multiple pregnancies with anti-oestrogen therapies i.e. clomifene
Block hypothal oestrogen receptors - > oestradiol doesn’t bind - > FSH not inhibited via neg feedback therefore gets secreted!”
Gynaecomastia oest:and ratio?
causes?
"Gynaecomastia: increased oest:androgen V I mumps, N testicular seminoma sec hcg, ectopic D HaemoDialysis, spironolactone>Anabolic steds, amlodipine, busulfan, cimetidine, digoxin, wEed, finasteride, Goserelin gondaorelin analogue, haemodialysis heroin, isoniazid, methyldopa I C Kall/Klein A T E physiology, liver dx, hyperT"
“Liddle Synd inheritance? = biochem and ABG reading?
Tx?
“Liddle Synd AR = HTN and hypokal alkalosis
Tx = potassium sparing drugs”
“Barter blood pressure??
biochem? Sx?
“Barter get normotension
Hypokal, polydip polyuria, fail 2 thrive”
“Conns: HTN, ABG and electrolytes?
Ix?
“Conns: HTN, hypokal met alk, hyerNat
Plasma aldosterone/renin ratio
CT abdo
Adrenal vein sampling to diff between uni/bilat sources of aldosterone
AdrAdenoma: surgery
Bilal adr hyperplasia: aldosterone blocker e.g. spiro”
“SUs/Meglitinides eg repaglinide
mechanism? good for ?
“SUs/Meglitinides eg repaglinide
closes ATP-dependent K channels in beta islets - > increases IC K so depolarizes the beta cells - - > open Ca channels - - > influx of Ca - - > induces insulin secretion at meal time - good for erratic lifestyle”
GDM screening?
RFs?
“GDM
Prev GDM = OGTT asap - > if normal - > OGTT @ 24-28 weeks
FDR DM/fam origin, BMI>30, prev GDM/macrosomia>4.5kg”
GDM fasting glucose is >= ?? mmol/l
2-hour OGTT is >= ?? mmol/l
Newly diagnosed = antenatal+DM clinic in how long?? - > FPG 5.6 - 6.9 = ?? -> wait ?? weeks -> still high = ?? - > still high = add ?? if refuse ??
if newly diagnosed = antenatal+DM clinic in a week - > FPG?? / BM ?? + ?? - > ?? if refuse ??”
“fasting glucose is >= 5.6 mmol/l
2-hour glucose is >= 7.8 mmol/l
Newly diagnosed = antenatal+DM clinic in a week - > FPG 5.6 - 6.9 = diet&ex -> wait 1-2 weeks -> still high = metformin/glibenclamide - > still high = add insulin /glibenclamide if refuse insulin
Newly diagnosed = antenatal+DM clinic in a week - > FPG>7 / BM 6-6.9 + macrosomiaORhydramnios - > insulin/glibenclamide if refuse insulin”
"Pre-existing DM at preg: BMI >?? = WL Stop which meds except ?? What drug to prevent eclampsia? When? W20 anomaly scan inc ??
"Pre-existing DM at preg: BMI >27 = WL Stop all oral hypoglycaemics except metformin and insulin Aspirin W12 to birth = prevent eclampsia W20 anomaly scan inc 4 chamb heart view"
“PFMAL
pap (?? mets), follic (?? invasion), med (which cells = neural crest derivative, what biochem high??) , anaplast (which demographic?, kind of sx), lymphoma assoc w/ ??
Pap & follic tx?
“PFMAL
pap (LN mets), follic (vasc invasion), med (C-cells = neural crest derivative, calcitonin high) , anaplast (old women, PRESSURE sx), lymphoma assoc w/ Hashimito
Pap & follic: thyroidectomy, RAI, Tg lvls yrly”
OABladder: In older men, ?? is preferred to ?? as the latter has a greater risk of causing confusion
OABladder: In older men, tolterodine is preferred to oxybutynin as the latter has a greater risk of causing confusion
"Insulinoma: what vision sx? & triad?? High ?? ratio, high which peptide?? Ix: 1a. ?? 1b. ?????? during hypo!!! 2. imaging??
Tx:??
“Insulinoma: diplopia & hypo Sx whipples triad
High proinsulin:insulin ratio, high C-peptide
Ix:
1a. prolonged fasting (up to 72 hours),
1b. insulin + C-pep during hypo!!!
2. CT pancreas
Tx: surg/diazoxide or somatostatin”
"MODY: in ?? yrs BMI of ppl?? Which type most common? 2 = ?? gene 3 = ?? gene dx + which cancer? 5 = ?? gene dx + which pathology? very sensitive to which hypoglycaemic??
"MODY: in <25yrs thin ppl. 3alpha>2gkinase>5beta 2 = glucokinase gene 3 = HNF alpha dx + HCC 5 = HNF beta + cysts @ liver/kidney very sensitive to sulfonylureas"
LADA is assoc with a body habitus similar to the ?? although progression to insulin therapy occurs quicker or slower?
LADA is assoc with a body habitus similar to the overweight / obese picture seen in T2DM for many patients, although progression to insulin therapy occurs more quickly
what is best biochemical marker to assess Grave’s treatment?
TSH best biochemical marker to assess Grave’s treatment
If FPG/HbA1c shows pt is still progressing towards T2DM, despite intensive lifestyle, what drug?
metformin for high risk whose FPG/HbA1c shows they are still progressing towards T2DM, despite intensive lifestyle
MGUS vs myeloma: @MGUS, absence of cx eg. ??
MGUS vs myeloma: @MGUS, absence of cx eg. immune paresis, hypercalcaemia
Amytriptiline = which bladder issue?
Amytriptiline = urinary retention
extremely common side effect of acarbose??
Excessive flatulence is an extremely common side effect of acarbose which is often poorly tolerated
Acarbose = inhibit ?? - - > prevent ?? breakdown into glucose - - > ?? delivered to colon where bacteria digest ?? = flatulence/diarrhoea
Acarbose = inhibit intest alpha glucosidases - - > prevent starch and sucrose breakdown into glucose - - > increased carb load delivered to colon where bacteria digest the complex carbs = flatulence/diarrhoea
??
associated with apo-e2 homozygosity
Tx: ??”
“Fredrickson type III remnant hyperlipidaemia, broad-beta disease and dysbetalipoproteinaemia
associated with apo-e2 homozygosity
Tx: fibrates”
Orlistat works by ??
Orlistat works by inhibiting gastric and pancreatic lipase
“Myxoedemic coma is treated with ? and ?
Patients suffering from a myxoedemic coma due to SECONDADY hypoT (ie lesion in pituitary) are at risk of ? due to the location of the lesion. So pts treated as presumed ?? UNTIL ruled out.”
“Myxoedemic coma is treated with thyroxine and hydrocortisone
Patients suffering from a myxoedemic coma due to SECONDADY hypoT (ie lesion in pituitary) are at risk of hypoPit due to the location of the lesion. So pts treated as presumed adrenal insufficiency UNTIL ruled out.”
“Untxd subclinical hypoT consequences: ?? + ??
TSH 4 - 10mU/L:
1-If Asyx: ??
2-If years w/ hypoT Sx = give ? –> If not improve, ??
3-?? if >??yrs
TSH is > 10mU/L:
start ?? if <= ?? years
W&W if >??yrs
“Untxd subclinical hypoT consequences: SVTs + OP
TSH 4 - 10mU/L:
1-If Asyx: W&W repeat TFTs in 6m
2-If <65 years w/ hypoT Sx = give Ltx –> If not improve, stop LTx
3-W&W if >80
TSH is > 10mU/L:
start LTx if <= 70 years
W&W if >80”
“DM develop in:
Impaired Glucose Tolerance (?? ins resistance) MORE or LESS than Impaired Fasting Glycaemia (?? ins resistance)??
“DM develop in:
Impaired Glucose Tolerance (muscle ins resistance) > Impaired Fasting Glycaemia (hepatic ins resistance)”
NICE like patients to have achieved a ? mmol/mol (?%) reduction in HbA1c and ?% weight loss after ? months to justify the ongoing prescription of GLP-1 mimetics along with the BMI>35/<35 stuff
NICE like patients to have achieved a 11 mmol/mol (1%) reduction in HbA1c and 3% weight loss after 6 months to justify the ongoing prescription of GLP-1 mimetics along with the BMI>35/<35 stuff
“Androgen insensitivity syndrome = inheritance pattern??? = end-organ resistance to ?? - >
?? children (46XY) w/ ?? phenotype
Sx: Amenorrhoea, undesc testes, breasts = test. converted to oest.
Tx: ??
"Androgen insensitivity syndrome = XLr = end-organ resistance to testosterone - > male children (46XY) w/ female phenotype Sx: Amenorrhoea, undesc testes, breasts = test. converted to oest. Tx: B/L orchidectomy cos of testic cancer risk and oestrogen Tx."
“Pendred Synd: B/L ?? deafness - ?? cochlea turns, mild hypothyroidism/euthyroid + goitre.
Dx: organification of iodine - > ?
Ix:
? ? test to aid diagnosis cos ? normal usually
Genetic testing - chromosome ?), ? and ? imaging to look for characteristic 1.5 turns in the cochlea, (compared to the normal ?)”
“Pendred Synd: B/L sensorineural deafness - 1.5 cochlea turns, mild hypothyroidism/euthyroid + goitre.
Dx: organification of iodine - > dyshormonogenesis
Ix:
Perchlorate discharge test to aid diagnosis cos TFTs normal usually
Genetic testing - chromosome 7), Audiometry and MRI imaging to look for characteristic 1.5 turns in the cochlea, (compared to the normal 2.5)”
?? is the most common cause of primary hyperaldosteronism
Bilateral idiopathic adrenal hyperplasia is the most common cause of primary hyperaldosteronism
“Parathyroidectomy should be considered in primary hyperPT:
aCa ?? mmol/L or more above the ?? end of the ref range.
Age < ?? years.
eGFR?
Renal ??
which bone dx?
?? dx”
“Parathyroidectomy should be considered in primary hyperPT:
aCa 0.25 mmol/L or more above the upper end of the ref range.
Age < 50 years.
eGFR<60
Renal stones/nephrocalcinosis
OP/OP#
Symptomatic dx”
"diagnosis of metabolic syndrome at least ?? of the following should be identified: Waist: men > ??cm, women > ??cm Triglycerides: > ? HDL: < ? in males and < ? in females HTN: > ? or active ? tx FPG > ??/?? Also get: high ?, ?, ?"
“diagnosis of metabolic syndrome at least 3 of the following should be identified:
Waist: men > 102cm, women > 88cm
Triglycerides: > 1.7
HDL: < 1.03 in males and < 1.29 in females
HTN: > 130/85 or active HTN tx
FPG > 5.6 mmol/L/T2DM
Also get: high urate, NAFLD, PCOS”
Block and replace regimes (?? side effects) = ? duration than carbimazole titration tx
Block and replace regimes (more side effects) = shorter duration than carbimazole titration tx
"Diabetic neuropathy: 1?? 2. 1 of the other 3 3. ?? for rescue 4. Topical ??
"Diabetic neuropathy: Amytrip, pregap, gabapent, dulox 1 of the other 3 Tramadol for rescue Top capsaicin"
? deficiency is the most common cause of congenital adrenal hyperplasia
? deficiency is responsible for around 5% of cases of congenital adrenal hyperplasia making this the second most common cause.
? deficiency is a rare cause of CAH
21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia making option 4 the correct answer.
11-beta hydroxylase deficiency is responsible for around 5% of cases of congenital adrenal hyperplasia making this the second most common cause.
17-hydroxylase deficiency is a rare cause of CAH
Ambiguous male genitalia or female external genitalia at birth in a 46XY male. Patients also have hypothyroidism, cryptorchidism, metabolic disorders and are infertile.
17β-hydroxysteroid dehydrogenase deficiency - > rare dx of ambiguous male genitalia or female external genitalia at birth in a 46XY male. Patients also have hypothyroidism, cryptorchidism, metabolic disorders and are infertile.
?? dx affects male sexual development resulting in a genetically male individual with usually either female or ambiguous genitalia. Some individuals may have micropenis with hypospadias.
5-alpha reductase deficiency = AR dx affects male sexual development resulting in a genetically male individual with usually either female or ambiguous genitalia. Some individuals may have micropenis with hypospadias.
Carbimazole blocks ?? from ? and ? the tyrosine residues on ?? → reducing thyroid hormone production
Carbimazole blocks TPO from coupling and iodinating the tyrosine residues on thyroglobulin → reducing thyroid hormone production
PTU also inhibits ?? which reduces peripheral conversion of ??
PTU also inhibits 5’-deiodinase which reduces peripheral conversion of T4 to T3
??’s thyroiditis = rare cause of hypoT characterised by dense fibrous tissue replacing the normal thyroid parenchyma. OE: a hard, fixed, painless goitre is noted. It is usually seen in middle-aged women. Assoc w/ ??
Riedel’s thyroiditis = rare cause of hypoT characterised by dense fibrous tissue replacing the normal thyroid parenchyma. OE: a hard, fixed, painless goitre is noted. It is usually seen in middle-aged women. Assoc w/ retroperitoneal fibrosis.
“Urge: BOM
first line?
2nd line? what to avoid in oldies?
whats better in oldies? what type of drug?
“Urge:
bladder retraining-> antimuscarinics not in old ppl/urine retainers!! -> mirabegron in oldies and retainers!! (a beta-3 agonist)”
“Higher-than-expected levels of HbA1c (due to increased red blood cell lifespan) in ??
“Higher-than-expected levels of HbA1c (due to increased red blood cell lifespan):
B12/folate deficiency
Iron-deficiency anaemia
Splenectomy”
“Lower-than-expected levels of HbA1c:
??”
“Lower-than-expected levels of HbA1c:
Hemolysis”
Tx HypoT ref range: ??
Tx HypoT ref range: 0.5-2.5
Thinning of pubic and axillary hair is seen in females with ?? due to ??
Thinning of pubic and axillary hair is seen in females with Addison’s disease due to reduced production of testosterones from the adrenal gland
?? is suggested by the tender goitre, hyperthyroidism and raised ESR. The globally reduced uptake on technetium thyroid scan is also typical
Subacute thyroiditis is suggested by the tender goitre, hyperthyroidism and raised ESR. The globally reduced uptake on technetium thyroid scan is also typical
Non-functioning pituitary tumours present with ?? and ?? effects ie high prolactin cos tumour not letting dopamine stop prolactin
Non-functioning pituitary tumours present with hypopituitarism and pressure effects ie high prolactin cos tumour not letting dopamine stop prolactin
A normal short synacthen test does not exclude adrenocortical insufficiency due to ?? failure
A normal short synacthen test does not exclude adrenocortical insufficiency due to pituitary failure
“HRT: adding a progestogen increases the risk of ??
P for B and E for E
Estrogen increased risk of ?? cancer.”
“HRT: adding a progestogen increases the risk of breast cancer
P for B And. E for E
Progesterone increased risk of breast cancer.
Estrogen increased risk of endometrial cancer.”
In post-partum thyroiditis, the woman initially develops ?? immediately after birth followed by ?? thyroid levels.
In post-partum thyroiditis, the woman initially develops hyperthyroidism immediately after birth followed by normal or sometimes decreased thyroid levels.
Toxic multinodular goitre - tx??
Toxic multinodular goitre - RAI!!
Hypoglycaemia in patients with alcoholic liver disease does not respond to ??
Hypoglycaemia in patients with alcoholic liver disease does not respond to glucagon
Insulin stress tests are also occasionally used to differentiate ?? from ??
Insulin stress tests are also occasionally used to differentiate Cushing’s from pseudo-Cushing’s
APS type 2 has a ?? inheritance and is linked to HLA?? . Patients have ?? disease plus either:
?? And ??
Type 2 is aka??
APS type 2 has a polygenic inheritance and is linked to HLA DR3/DR4. Patients have Addison’s disease plus either:
type 1 diabetes mellitus
autoimmune thyroid disease
type 2 (sometimes referred to as Schmidt’s syndrome) being much more common.
chronic mucocutaneous candidiasis (typically first feature as young child)
Addison’s disease
primary hypoparathyroidism low calc and low pth
Inheritance? Gene?? Chromosome??
APS type 1 is occasionally referred to as Multiple Endocrine Deficiency Autoimmune Candidiasis (MEDAC). It is a very rare autosomal recessive disorder caused by mutation of AIRE1 gene on chromosome 21
