Thyroid diseases

Katatwire Denis, MD
GENERAL ASPECTS OF THYROID GLAND
Anatomy: weight ranges from 12 to 30g
Located in the neck, anterior to the trachea
Produces: T4 & T3 (active hormone)
Regulation: “negative Feed-back” axis
THYROID GLAND DISORDERS;
• THYROID GLAND REGULATION
“negative Feed-back” axis

• Hypothalamus
(negative
effect)
(TRH positive effect)

• Pituitary gland

(TSH, positive effect)

• Thyroid gland

T3 & T4
Thyroid hormones:

• T4: (Thyroxine) is made exclusively in thyroid gland

• Ratio of T4 to T3 ; 5:1
• Potency of T4 to T3; 1:10
• T4 is the most important source of T3 by peripheral
tissue deiodination “ T4 to T3
Thyroid hormones:
• T3: (Triiodothyronine) main source is peripheral
deiodination:
• Ratio of T3 to T4 ; 1:5
• Potency of T3 to T4; 10:1
• T3 is the most important because more than 90% of the
thyroid hormones physiological effects are due to the
binding of T3 to Thyroid receptors in peripheral tissues.
THYROID HORMONE EFFECTS:

• Affects every single cell in the body

• Modulates:
• Oxygen consumption
• Growth rate
• Maturation and cell differentiation
• Turnover of Vitamins, Hormones, Proteins, Fat, CHO
 MECHANISMS OF THYROID HORMONE ACTION
• Act by binding to Nuclear receptors, termed Thyroid
Hormone Receptors (TRs), Increasing synthesis of proteins
• At mitochondrial level increases number and activity to
increasing ATP production
• At Cell membrane increases ions and substrates
transmembrane flux
THYROID HORMONE EFFECTS ON CVS
Hyperthyroidism, increases:
• Heart rate & myocardial strenght
• Cardiac output
• Peripheral resistances (Vasodilatation)
• Oxygen consumption
• Arterial pressure

Hypothyroidism, reduces:
• Heart rate & myocardial strenght
• Cardiac output
• Peripheral resistances (Vasodilatation)
• Oxygen consumption
• Arterial pressure
 THYROID GLAND DISORDERS
• DIVIDED INTO:
• THYROTOXICOSIS (Hyperthyroidism)
• Overproduction of thyroid hormones
• HYPOTHYROIDISM (Gland destruction)
• Underproduction of thyroid hormones
• NEOPLASTIC PROCESSES
• Beningn
• Malignant
LABORATORY EVALUATION
• If TSH is abnormal, next step: Total & Free T4 & T3
NB: Free T4 and T3 are useful than Total T4/T3 because
T4/T3 ↑ as TBG ↑ and viceversa. TBG ↑ in pregnancy,
oestrogen therapy and Hepatitis. TBG ↓ Nephrotic
syndrome, Malnutrition, Drug (androgens, corticosteroids,
Phenytoin), chronic liver disease and acromegally.
• Hyperthyroidism suspected: ask for T3/T4 and TSH.
 TSH will be low, T4/T3 will be elevated.
 Thyroid ultrasound-Help to distinguish cystic and solid masses
and in guiding FNAC.
 Thyroid autoantibodies: antithyroglobulin will↑in
autoimmune thyroid disease, like Hashimoto’s or Grave’s
disease.
 TSH receptor antibody: May be ↑ in Graves disease.
 Serum thyroglobulin: used in monitoring Rx of Ca, detection
of factitious hyperthyroidism, where it’s low.
 Radioiodine uptake & Isotpe scan: Useful in determining the
cause of hyperthyroidism.
 Detection of of Retrosternal goitre, ectopic thyroid tissue or
metastasis (+CT Scan)
 FNA; Fine - needle aspiration.
If TSH is HIGH indicates Hypothyroidism:
 Rare causes:
• TSH- secreting pituitary tumor
• Thyroid hormone resistance
• Assay artifact

If is TSH low indicates Thyrotoxicosis

 Other causes
• First trimester of pregnancy
• After treatment of hyperthyroidism
• Some medications (Esteroids-dopamine)
 THYROID GLAND DISORDERS
• THYROTOXICOSIS:
• is defined as the state of thyroid hormone excesss
• HYPERTHYROIDISM:
• is the result of excessive thyroid gland function
• Abnormalities of Thyroid Hormones
• Thyrotoxicosis
• Primary
• Secondary
• Without Hyperthyroidism
• Exogenous or factitious

• Hypothyroidism
• Primary
• Secondary
• Peripheral
• Causes of Thyrotoxicosis:
• Primary Hyperthyroidism
• Grave´s disease
• Toxic Multinodular Goiter
• Toxic adenoma
• Functioning thyroid carcinoma metastases
• Activating mutation of TSH receptor
• Struma ovary = teratoma of ovary secreting
predominant thyroid hormones… leading to
hyperthyroidism
• Drugs: Iodine excess
• Causes of Thyrotoxicosis:
• Thyrotoxicosis without hyperthyroidism
• Subacute thyroiditis
• Silent thyroiditis
• Other causes of thyroid destruction:
• Amiodarone, radiation, infarction of an adenoma
• Exogenous/ Factitia

• Secondary Hyperthyroidism
• TSH- secreting pituitary adenoma
• Thyroid hormone resistance syndrome
• Chorionic Gonadotropin-secreting tumor
• Gestational thyrotoxicosis
 THYROTOXICOSIS
• Symptoms: • Signs:
• Hyperactivity • Tachycardia
• Irritability • Atrial fibrillation
• Dysphoria • Tremor
• Heat intolerance & sweating • Goiter
• Palpitations • Warm, moist skin
• Fatigue & weakness • Muscle weakness,
• Weight loss with increased myopathy
appetite • Lid retraction or lag
• Diarrhea • Gynecomastia
• Polyuria • * Exophtalmus
• ??? Sexual dysfunction • * Pretibial myxedema
• Differential diagnosis:
• Panic attacks
• Psychosis
• Mania
• Pheochromocytoma
• Hypoglycemia
• Occult malignancy
THYROID GLAND DISORDERS
• Treatment:
• Reducing thyroid hormone synthesis:
• Antithyroid drugs (Methimazole, Propylthyouracil)
• Radioiodine (131I)
• Subtotal thyroidectomy
• Reducing Thyroid hormone effects:
• Propranolol
• Glucocorticoids
• Benzodiazepines
• Reducing peripheral conversion of T4 to T3
• Propylthyouracil
• Glucocorticoids
• Iodide (Large oral or IV dosage) (Wolf - Chaikoff effect)
• Treatment: Special considerations:
• Thyrotoxic crisis or Thyroid storm:
• It´s a life-threatening exacervation of thyrotoxicosis,
acompanied by fever, delirium, seizures, coma, vomiting,
diarrhea, jaundice.
• Mortality rate reachs 30% even with treatment
• It´s usually precipitated by acute illness, such as:
• Stroke, infection,trauma, diabeic ketoacidosis, surgery,
radioiodine treatment

• Propylthyouracil IV or Nasogastric tube

• Radioiodine (131I)
• Propranolol
• Glucocorticoids
• Benzodiazepines
• Iodide (Large oral or IV dosage) (Wolf -- Chaikoff effect)
• HYPOTHYROIDISM
• Primary
• Autoimmune (Hashimoto´s)
• Iatrogenic; Surgery or 131I
• Drugs: amiodarone, lithium
• Congenital (1 in 3000 to 4000)
• Iodine defficiency
• Infiltrative disorders
 Hashimoto´s Thyroiditis or Goitrous thyroiditis
• Mean anual incidence:
• Women 4:1000 Men 1:1000
• Risk factors; TPO antibodies (90%) Japanese, previous
history, high I intake
• Average age: 60
• Frequently associated to other autoimmune
disorders such as: AR, SLE, Sjogren´s so- on.
• Treatment: Levothyroxine
 CONGENITAL HYPOTHYROIDISM
• Prevalence: 1 in 3000 to 4000 newborns
• Cause: Dysgenesis 85%
• Dx: Blood screning (TSH &/or T4)
• Treatment:
• Supplemental Tx. With Levothyroxine is “essential” for a
normal C.N.S. Development and prevention of mental
retardation
• HYPOTHYROIDISM
• Secondary
• Pituitary gland destruction
• Isolated TSH deficiency
• Bexarotene treatment
• Hypothalamic disorders
• Peripheral:
• Rare, familial tendency
• Symptoms: • Signs:
• Tiredness • Bradycardia
• Weakness • Dry coarse skin
• Sexual dysfunction • Puffy face, hands and feet
• Dry skin • Diffuse alopecia
• Peripheral edema
• Hair loss
• Delayed tendon reflex
• Difficulty concentrating relaxation
• Carpal tunel syndrome
• Serous cavity effusions.
 SPECIAL TREATMENT CONSIDERATIONS
• Myxedema coma
• Reduced level of consciousness, seizures
• Hypotension/shock
• Hypothermia
• Hyponatremia
• Usually in elderly hypothyroid pts.
• Usually precipitated by intercurrent illnesses that impairs
ventilation
• It´s an Emergency with a high mortality rate
• Treatment: Lyotironine(T3) or T4, Hydrocortisone, external
warming, IV fluids
THYROID GLAND DISORDERS
• SPECIAL TREATMENT CONSIDERATIONS
• Elderly patients
• Coronary Artery Disease
• Poor adrenal gland reserve
• Childrens
• Pregnancy
• Emergency surgery (Non thyroid related)
 THYROID; Hyperthyroidism
• Thyrotoxicosis (most common cause)
a)  T3 and T4
• 3 most common causes:
a) diffuse hyperplasia
i) Graves disease (~ 85% of cases)
b) hyperfunctional multinodular goiter
c) multifunctional adenoma of thyroid
• Clinically
a) hypermetabolic state
i) skin  warm, soft and flushed
ii) heat intolerant
iii) sweating
iv) weight loss (despite  appetite)
v) cardiac  earliest S & S   HR,
contractility, CO, cardiomegaly, arrhythmias ( A fib in older
patients)
vi) neuromuscular  overactivity of SNS causes tremors,
anxiety, inability to concentrate, muscle weakness with 
muscle mass (thyroid myopathy)
vii) Ocular  wide, staring gaze and lid lag
- SNS overstimulation of levator palpebrae superioris
- ptosis
- true thyroid ophthalmopathy seen only in Graves disease
viii) GI  SNS  hypermotility, malabsorption and diarrhea
ix) Skeletal system  bone resorption, osteoporosis
• b) thyroid storm
i) abrupt onset of severe
hyperthyroidism (Graves &  SNS)
ii) febrile,  HR (out of proportion to febrile response)
iii) is a medical emergency
- death from cardiac arrhythmias
c) apathetic hyperthyroidism
i) seen in elderly
ii) age and other comorbidities blunt effects of excess thyroid
hormone excess
- diagnosis during work up for unexplained weight loss or
worsening CV disease
d) Diagnosis
i) measurement of serum TSH () in 1O- in 2O  TSH may be – or 
“TRH stimulation test” excludes secondary hyperthyroidism
ii)  T4 (sometimes  T3)
- in some cases, T4 may be 
- T3 may therefore be useful
• Thyrotoxicosis results in an increase in metabolic rate. This may
result in:
• Smooth, moist, warm skin
• Flushing of face and hands
• Overgrown nails (acropachy, clubbing), which may lift off the
nail bed (onycholysis)
• Fine soft thinned scalp hair
• Generalized itching (pruritus)
• Urticaria
• Increased skin pigmentation
• Pretibial myxedema
 Hypothyroidism
Any defect causing  thyroid hormone production
a) anywhere in hypothalamic-pituitary thyroid axis
b) 1o are most common cause
i) “thyroprivic” (loss of parenchyma)
ii) “goitrous” (due to  TSH)
Causes
a) large surgical resection
b) ablation (radiation) of hyperthyroidism !
c) autoimmune
i) most common cause of goitrous hypothyroidism
ii) most are due to Hashimoto thyroiditis (later)
d) drugs
i) to  thyroid secretion
ii) non thyroid conditions (lithium, -aminosalicylic acid)
e) inborn errors of thyroid metabolism
i) uncommon
ii) any step of thyroid hormone synthesis may be involved
- e.g., “Pendred syndrome” failure of binding iodine in
thyroglobulin
f) thyroid hormone resistance
i) receptor mutations
g) 2O hypothyroidism
i) TSH deficiency
ii) any of causes of hypopituitarism (frequently  tumor).
Other causes include: postpartum pituitary necrosis, trauma,
nonpituitary tumors
h) 3O (central) hypothyroidism
i) anything that interfere with hypothalamic-portal system
ii) inadequate TRH delivery
Cretinism
a) hypothyroidism developing in infancy/early childhood
i) severe mental retardation
ii) occurs in iodine deficient areas of world (i.e., Himalayas, inland
China, Africa)
iii) may also be sporadic, owing to enzyme deficiencies  
thyroid hormone synthesis
b) clinical:
i) impaired skeletal development
ii) impaired CNS development
- inadequate maternal thyroid hormone prior to fetal thyroid
gland formation  severe mental retardation
- normal brain development if maternal thyroid deficiency occurs
after fetal thyroid gland development
 Myxedema (i.e., Gull disease)
a) hypothyroidism developing in older child/adult
b) slowing of physical and mental activity
i) generalized fatigue
ii) apathy
iii) cold-intolerant
iv) overweight
v)  CO
- shortness of breath
-  exercise capacity
vi)  SNS activity
- constipation
-  sweating
vii) skin pale, cool ( blood flow)
viii) edema, puffy face, coarse hair
ix) broadening of facial features
x) enlarged tongue
xi) deepening of voice
c) clinical:
i) TSH level most sensitive screening test
-  in 1O (due to loss of feedback inhibition of TRH release)
- normal or not elevated in 2O or 3O hypothyroidism
- T4  in all forms of hypothyroidism
 A] Thyroiditis: inflammation of thyroid
a) acute illness with thyroid pain
b) may not significantly affect thyroid function
Types:
a) Hashimoto thyroiditis (chronic lymphocytic thyroiditis)
i) gradual thyroid failure due to autoimmune destruction of
thyroid
ii) 45-65 yrs
iii) 10:1 female predominance
iv) major cause of non endemic goiter in children
v) genetic component
- patients with Turner syndrome have  circulating antithyroid Ab
vi) Clinical:
1) progressive depletion of thyroid epithelial cells
2) replaced with mononuclear cells and fibrosis
3) comes to clinical attention as painless enlargement of thyroid
with some degree of hypothyroidism
4) Hypothyroidism progresses slowly
5) can be preceeded by “hashitoxicosis”
6) patients at risk in developing other autoimmune diseases
7) no CA risk
B] Subacute (granulomatous) thyroiditis
[“aka De Quervain thyroiditis”]
i) occurs less often than Hashimoto
ii) 30-50 yrs
iii) female preponderance 5:1
iv) caused by viral infection
v) history of upper respiratory infection just prior to onset of
thyroiditis
vi) seasonal incidence (summer peak)
vii) acute or gradual
viii) painful presentation, radiating to jaw, throat, ears: especially
when swallowing .
ix) inflammation and hyperthyroidism are transient
- followed by transient period of asymptomatic hypothyroidism
x) self limited disease
C] subacute lymphocytic (painless) thyroiditis
i) uncommon
ii) hyperthyroid presentation
- may present with any of signs of hyperthyroidism (no
opthalmopathy, as in Graves disease)
D] Riedel thyroiditis
i) fibrosis of thyroid and neighboring structures
ii) presents as hard and fixed thyroid which clinically is similar to
CA
e) Palpation thyroiditis
i) vigorous clinical palpation
ii) thyroid function not affected
iii) usually an incidental finding.
 GRAVES DISEASE
Most common cause of endogenous hyperthyroidism
Characteristics:
a) hyperthyroidism
i) diffuse enlargement of thyroid
ii) lymphocytic infiltration
b) infiltrative ophthalmopathy
i) with resultant exophthalmos
c) localized infiltrative dermopathy
i) “pretibial myxedema”
- present in minority of cases !
• Thyrotoxicosis results in an increase in metabolic rate. This
may result in:
• Smooth, moist, warm skin
• Flushing of face and hands
• Overgrown nails (acropachy, clubbing), which may lift off the
nail bed (onycholysis)
• Fine soft thinned scalp hair
• Generalised itching (pruritus)
• Urticaria
• Increased skin pigmentation

• “Pretibial myxedema”
• peak incidence 20-40
• female preponderance (7:1)
• familial link
• Pathogenesis:
a) autoimmune disorder
b) Ab against TSH receptor is central to disease process
c) retro-orbital connective tissue and ocular muscles are
increased
i) inflammatory edema
ii) T-cell infiltration
iii) fatty infiltration
iv) ECM accumulation
v) these cause eye to bulge outward
d) Clinical:
i)  T3 and T4
ii)  TSH
Goiter: Diffuse and multinodular enlargement of the thyroid
a) most common manifestation of thyroid disease
b) most often caused by dietary iodine deficiency (i.e., impaired
synthesis of thyroid hormone)
i) compensatory rise in TSH
ii) hyperplasia and hypertrophy compensates for hormone
deficiency (via TSH)
- result is euthyroid state
iii) if response is inadequate goitrous hypothyroid
- enlargement is proportional to degree and duration of thyroid
hormone deficiency
Diffuse nontoxic goiter
a) diffuse goiter without nodules
b) thyroid follicles filled with colloid
i) “colloid goiter”
c) two types:
i) endemic
ii) sporadic
d) endemic goiter (<10% population)
i) geographic area deficient in iodine
ii) mountainous areas of world
- Alps, Himalayas, Andes.
iii)  TSH
iv) can result from ingestion of certain “goitrogens”
- cabbage, cauliflower, Brussels sprouts, turnips, cassava
- excessive calcium
e) Sporadic goiter
i) less frequent than endemic
ii) female preponderance
iii) peak incidence near puberty
Multinodular goiter
a) recurrent hyperplasia/hypertrophy
b) all simple nontoxic goiters evolve into multinodular goiters
c) produce the most extreme thyroid enlargements
i) often mistaken for neoplasm
d) asymmetrically enlarged thyroid
e) small % of patients may develop a hyperfunctioning thyroid
(nodule) resulting in a “toxic multinodular goiter”
i) Plummer syndrome is example
- without dermopathy nor ophthalmopathy (as in Graves)
all goiters may cause “Mass Effects”
• a) dysphagia
• b) compression of large vessels
• c) airway obstruction
 Thyroid Neoplasms
• Adenomas
• discrete solitary masses
• derived from follicular epithelium (i.e., “follicular
adenomas”)
a) difficult to differentiate from a dominant nodule of follicular
hyperplasia
b) NOT predecessors of malignancy
c) mostly nonfunctional
i) small % produce hormones (thyrotoxicosis)
ii) hormones independent of TSH (thyroid “autonomy”).
Similar to Multinodular toxic goiter
Pathogenesis:
a) toxic adenoma = TSH receptor pathway is important signaling
for hormone production…… overproduction of cAMP
ii) “hot” nodules   iodine uptake
b) usually present as unilateral painless mass
c) take up less radioactive iodine compared to normal thyroid
parenchymal cells
i) “cold” nodules
ii) ~10% of cold nodules  malignant
iii) “hot” nodules rarely  malignant
d) biopsy is “gold” standard for diagnosis
e) do not recur nor metastasize
Other benign tumors
a) Cysts = usually represent cystic degeneration of thyroid follicular
adenoma b) lipomas c) hemangiomas d) dermoid cysts
e) teratomas (mainly in infants)
• Thyroid Cancer typically appears as a "cold nodule".
That is to say, it appears as a white area or defect in an
otherwise black thyroid. A "cold" area is NOT
necessarily cancer. Indeed, most "cold nodules" are
benign! Ultrasound, perhaps followed by biopsy, often
plays an important role in differentiation
 Thyroid Carcinomas
• most appear in adults
a) papillary CA may present in childhood
• female predominance (early and middle adult)
a) childhood and late adulthood have equal gender distribution
• Most CA are well differentiated:
a) papillary CA (~80% of cases)
b) follicular CA ( ~15% of cases)
c) medullary CA (~5% of cases)
d) anaplastic CA (< 5% of cases)
 • genetic and environmental factors implicated
a) genetic factors seen in both familial and nonfamilial (sporadic)
forms of CA
i) familial medullary CA  most inherited of thyroid CA
ii) papillary and follicular familial CA re very rare
b) exposure to ionizing radiation during first 2 decades of life is
one of the most important factors predisposing one to thyroid
cancer, in past, radiation of head and neck in children for a
variety of problems has led to ~ 10% developing thyroid
carcinoma
ii) atomic bomb survivors as well as those survivors following
Chernobyl incident have  thyroid carcinoma
- type is papillary carcinoma
c) pre-existing thyroid disease
i) multi-nodular goiter have predisposition to develop
carcinoma due to areas of  iodine
- type is follicular carcinoma
 Papillary Carcinoma
a) most common of thyroid carcinoma
b) any age
c) vast majority of carcinoma associated with ionizing radiation
exposure
d) solitary or multi-focal nodules
e) are non-functional tumors
i) painless masses; within thyroid or metastasis to cervical
lymph nodes
Follicular Carcinoma
a) second most common form of thyroid carcinoma
b)  incidence in areas of dietary iodine deficiency
c) do not arise from pre-existing adenomas
d) present most often as solitary nodule with no iodine uptake
(“cold nodules”)
e) metastasize via blood to lungs, bone and liver
f) unlike papillary carcinoma, regional nodal involvement is
uncommon
 Medullary Carcinoma
a) secrete calcitonin from “C” cells
i) calcitonin important diagnostic measurement as well as a
follow-up following treatment
b) may arise as solitary nodule or multiple lesions
c) ”C” cell hyperplasia
Anaplastic Carcinoma
b) most aggressive thyroid neoplasms
b) predominantly in elderly patients
i) areas with endemic goiter
c) death in < 1 year ( compromise of neck)
d) distant metastasis is common
Parathyroid hormone and
Hyperparathyroidism
• Secreted in response to low ionised Ca2+ by 4 parathyroid
glands situated in the posterior to thyroid.
• Controlled by negative feedback via Ca2+ levels
• It acts by ↑osteoclast activity releasing Ca2+ and PO3-4
from bones. ↑Ca2+ and ↓PO3-4 resorption in the kidney
• Active 1,25dihyroxy-vit D is production also increased
• Overall effects is ↑Ca2+ and ↓PO3-4
Primary hyperparathyroidism
Causes:
• 80% solitary adenoma
• 20% hyperplasia of all gland
• ˂5% parathyroid cancer
Clinical features: often asymptomatic
• with ↑Ca2+ levels on routine test Signs: 1) relate to ↑Ca2+
weak tired depressed, thirsty, dehydrated, renal stones, abd
pain, pancreatitis, Peptic ulcers.
2) Bone resoprption effects of PTH can cause: pain, fractures,
ostepenia and osteoporosis
3) Increased BP therefore check Ca2+ levels in all patients with
hypertension.
Associated with MEN 1;
Investigations:
• Ca2+ levels↑
• PTH levels↑
• Alkaline Phosphatase will be↑ from bone activity
• 24 hour urinary Ca2+ will be high
IMAGING:
• Osteitis fibrosa cystica ( due to severe resorption; rare) may
show up as subperiosteal erosionsm cysts, brown tumors of
phalanges with/out acro-osteolysis.
• Pepper pot skull
• Osteoporosis
Treatment:
Mild: advice on ↑fluid intake to avoid stones.
• Avoid Thiazides diuretics +calcium diet and vit D intake.
• Advice to come 6 monthly.
• Excision of adenoma or all 4 hyperplastic glands prevents
fractures and Peptic ulcers
Indications; High urinary Ca2+, bone disease and osteoporosis,
renal calculi and ↓renal function
Complications: Hypoparathyroidism, recurrent laryngeal nerve
palsy damage, symptomatic ↓Ca2+ (hungry bones syndrome)
check Ca2+ daily for 14 days post op.
Secondary hyperparathyroidism:
• ↓Ca2+ and ↑PTH levels
Causes:
• Vit D intake
• Chronic renal failure
Treatment:
• treat underlying causes
• Phosphate binders (Ca2+ free Lanthanum)
• Vit D if PTH≥ 85pmol/L
• Parathyirodectomy
Tertiary hyperparathyroidism:
• Ca2+ ↑ and ↑↑PTH. Occur after prolonged 2º
hyperparathyroidism, causing glands to act autonomously
having undergone hyperplastic or adenomatous changes.
• This causes ↑Ca2+ from ↑↑ secretion of PTH resulting
unlimited by feedback control usually seen in CRF.
Malignant hyperparathyroidism:
• Parathyroid – related protein is produced by some squamous
cell lung cancers, breast and renal cell carcinomas.
• This mimics PTH resulting in Ca2+↑
Hypoparathyroidism:
1] 1º hypoparathyroidism: PTH is decreased due to gland failure.
Inv: Ca2+↓, PO4↑, Alkaline phosphate will be normal or
increased.
Signs are like those of hypocalcaemia +-autoimmune co
morbidities.
Causes: Autoimmune, congenital (Di George syndrome).
Treatment: Ca2+ supplements+calcitiol
Secondary Hypoparathyroidism:
Due to:
• radiation,
• surgery( thyroidectomy, parathyroidectomy ).
• Hypomagnesemia. (Mg is required for PTH secretion)
Pseudohypoparathyroidism: Failure of target cell response to PTH.
Signs: short metacarpals esp. 4th and 5th round face, short stature,
calcified basal ganglia. ↓IQ.
Inv: Ca2+ ↓, PTH↑, Alkaline Phosphatase ↔or ↑.
Treatment as for 1ºhypoparathyroidism.
MEN (Multiple Endocrine Neoplasia)
• Functioning hormone producing tumours syndrome in multiple
organs.
• Autosomal dominants
Comprise as type 1 &2, Neurofibromatosis, Von Hippel Lindau,
and Peutz Jerghers
Type 1:
• Parathyroid hyperplasia/adenoma
• Pancreas endocrine tumours (gastrinoma, insulinoma,
somatostatinoma,glucagonoma).
• Pituitary prolactinoma or GH secreting tumor
Men-1 gene is tumour suppressor gene, alters transcription and
occur in 3rd or 4th decade.
MEN-2a:
• Thyroid: Medullary thyroid carcinoma
• Adrenal: Phaeochromocytoma
• Parathyroid hyperplasia
MEN-2b:
• Similar features to MEN 2a plus mucosal neuroma and
Marfanoid appearance