ENDOCRINE MEDICINE

Davidson Shortlisted – Hira_Fj’23

Hira_Fj'23

Thyroid:
Physiology:

∆ Follicular Epithelial Cells Synthesize Thyroid Hormone:

On The Surface of Thyroglobulin(A protein Secreted into colloid):
Iodine + Tyrosine --> T4 Mainly
∆ In Blood : T4 --> T3
∆ T4 Half Life = 1 week
∆ T3 Half Life = 18 hrs
∆ T3 MORE Effective in binding and activating receptors
∆ T3 and T4 BOUND in PLASMA with Thyroxine Binding Globulin (TBG)
∆ EFFECT is only of UNBOUND Thyroid Hormone
∆ Main Significance is of FREE T3 and T4 (In investigations)
∆ Significance of FREE T3 and T4:
Suppose patient is taking OCPs
OCPs have Estrogen
↑ Estrogen → ↑ TBGs → ↑ in total T3 and T4
While FREE T3 T4 remain NORMAL
 Hira_Fj'23

∆ Hypothalamic TRH → Anterior pituitary TSH → T3 and T4

∆ TSH is the MOST IMP investigation (b/c anterior pituitary is v sensitive to levels of T4 T3)
But T4 and T3 (Free) MUST Always be considered as well

Pharmacology:
Hira_Fj'23
Hira_Fj'23
Pathology:
i)Hyperthyroidism Hira_Fj'23
a)Graves Disease
b) Multinodular Goitre
c)Toxic Adenoma
d) Thyroiditis

Clinical Features:
I)Wt Loss
ii) Inc Apetite
iii) Heat Intolerance
iv) Palpitations
v) Tremors
vi) Irritability
vii) Palmar Erythma(Vasodilation), Lid lag(Common)
viii) Graves – Diffuse Soft Goitre
ix)Irregularly enlarged MNG
Lid Lag Pathophysiology: Sympathetic Innervation of levator palpebrae ↑
x) Graves : Periorbital Edema, Conjunctival Irritation, Exophthalmos, Diplopia,
Pretibial Myxedema
Pathophysiology of eye signs:
a)Orbital fibroblasts have TSH and IGF-1 receptors, which are directly stimulated
by thyroid-stimulating immunoglobulins (TSIs). There is an enhanced
proliferation of orbital fibroblasts as a consequence, which eventually causes
extensive fibrosis in the orbit
b) TSI also mediates the differentiation of orbital fibroblasts into adipocytes and
myofibroblasts. A state of hyperproliferation of adipocytes and myofibroblasts
increases periorbital soft tissue volume
c) Also, orbital fibroblasts exhibit an exaggerated inflammatory response in the setting of TSI-TSH
receptor interaction. There is an accumulation of extracellular
matrix in the setting of this pro-inflammatory milieu, which leads to soft tissue
edema and proptosis

Upper Lid Retraction:

a)Muller’s muscle (superior tarsal muscle) under the sympathetic stimulation of excess
circulating thyroid hormones contracts and contributes to lid retraction
B)Due to extensive orbital inflammation, the levator palpebrae superioris is infiltrated by
inflammatory cells, which leads to fibrosis and contraction of the muscle

Xi)Tachycardia Hira_Fj'23
Investigations:
A) BIOCHEMICAL:
I)First Line:
Serum T3, T4 , TSH
Hira_Fj'23
ii) T3 and T4 elevated
but T4 is in upper part of ref range
T3 is raised
This is in T3 Toxicosis
iii)TSH raised in sec thyrotoxicosis(Pituitary adenoma producing tsh), Not in primary
B) TSH Receptor Ab I.e TRAb
C) If Ab unavailable, go for Radio isotope Scanning or Technitium Scintigraphy scan
D) ECG Showing atrial fib or sinus tachy

Factitious Thyrotoxicosis: Consuming Levothyroxine or thyroid prep

Management: (Stepup)
I) Anti thyroid Drugs
ii) Radioactive Iodine Hira_Fj'23
iii) Surgery
iv) Beta Blocker (Propranolol 160mg daily)
STEP UP:

Hira_Fj'23

Methimazole preferred
THYROID STORM:
∆ Clinical:
Fever, Agitation, Delirium, tachy and atrial fib.
∆ Due to infection In patient of hyperthyroidism
∆ Or After Thyroidectomy
∆ Or after Radioactive Iodine therapy
∆ Rxn:
I)Rehydration
ii)Propranolol(80mg 4x daily)
iii)Glucocorticoids (Hydrocortisone 100mg IV every 8 hrs)
Iodine
iv)Sodium Ipodate (500mg / daily /Orally)will restore T3 levels in 48-72 hrs/ potassium iodide/
lugol soln.
v)Propylthiouracil (200mg every 4 hrs)
Propythiouracil inhibits conversion of T4 to T3 but carbimazole doesn’t

GRAVES DISEASE:
∆Women aged 30-50 yrs
∆Pathophysiology:
IgG Ab --> Against TSH receptor --> stimulate thyroid hormone production + proliferation of
follicular cells --> Goitre
∆TSH Receptor Ab = TRAb
∆Genetic
Hira_Fj'23
∆Management:

∆ Start with anti thyroid drugs --> then radioactive iodine or surgery if relapse
∆Anti thyroid Drugs --> Inhibit iodination of tyrosine
∆Doses:
Carbimazole 40-60mg/ daily
Propylthiouracil 400-600mg / daily
Euthyroid after 6-8 wks
∆Prior to surgery give oral potassium iodide 60mg / 3 times daily for 10 days (To inhibit thyroid
hormone synthesis and reduce size and vascularity of gland
∆With radioactive iodine pt. Develop hypothyroidism
HYPOTHYROIDISM:
∆Hashimoto Thyroiditis
∆Thyroid Failure after radioactive iodine surgery or surgical treatment of hyperthyroidism
Clinical Features:
Accumulation of Mucopolysaccharides in Tissues
I)Low pitched Voice
ii)Poor hearing
iii) Slurred speech due to large tongue
iv)Carpal tunnel syndrome( compressed median nerve at wrist)
v)Non pitting edema (myxedema)
vi)Periorbital puffiness
vii)Facial palor
viii) tiredness, wt gain
Hira_Fj'23

Investigations:
i)Low T4, elevated TSH (>20mlU/L)
ii)Thyroid Peroxidase Ab
iii)ECG – Sinus Brady
Management:
I)Levothyroxine 1.6 micro gram/ kg – Single dose daily
repeat test after 10 wks
* Suppressed TSH is a risk factor for osteoporosis and atrial fib
*In IHD pt. Introduce dose slowly and at low dose
STEP U{:

Hira_Fj'23
De Quervain Thyoiriditis:
∆ Occurs after viral infection
∆Pain in thyroid region radiating to angle of jaw made worse by swallowing, coughing, neck
movement
∆20 - 40 yrs of age
∆T3 T4 increased for 4-6 wks
Then Hypothyroidism occurs(as colloid depletes)
Raised ESR
Give NSAIDs and Prednisolone (40mg daily)

PAST UHS PROF:

Thyroid Disease
Q. A 2 month old baby has been brought for evaluation if her constipation since birth. Her
skin appears mottled and there is umbilical hernia. She is hypothermic and jaundiced with an
indirect bilirubin 7.5mg/dl. (Supple 2019)
a)Diagnosis?
Congenital Hypothyroidism
B) Investigations?
C) Management?

Q. A 5 wk old baby has not gained wt since birth. Remains constipated. Her skin appears
mottled. She is hypothermic and jaundiced.
A) Diagnosis?
Congenital Hypothyroidism
B)Investigations
c)Management?
Q. A 1 yr old baby has delayed motor and mental milestones. O/E he has dry skin and hair, wt
10kg and ht 70cm. His voice is husky and hoarse(Supple 2017)

A)Diagnosis?
Congenital Hypothyroidism
b) 3 investigations?
C)Management?

Q. A 4 month old infant has lethargy, poor feeding and constipation. O.E coarse facial
features and umbilical hernia (Annual 2015)
a)Diagnosis?
Congenital Hypothyroidism Hira_Fj'23
b) 3 Relevant investigations?
C)Management

Q.A 3 month old baby has constipation and feeding difficulties with choking spells. He had
prolonged jaundice since 1st week of life. O/e he has coarse facial features , a large protruding
tongue, and mottled skinm, wide opened fontanelle. (Annual 2013)
a)Diagnosis?
Congenital Hypothyroidism
B)Biochemical diagnosis
c)Other clinical features
d)Management
1. 30-year-old female is worried about her weight gain. She has put up 10 kg in last
four months. She also complains of hoarseness of her voice and constipation. On
examination, she has delayed ankle reflexes.
a) What is your diagnosis?
b) How are you going to investigate this patient?
c) What advice will you give to her for management?
[Supple 2019 held in 2020]
2. A 20-year-old girl presented to general physician with a history of recurrent
palpitations. On examination, she has an irregular pulse. She is referred to the
hospital. Her ECG report showed absent P waves with an irregularly irregular rhythm.
The attending doctor noticed that she has tremors of her out-stretched hands. She
also has a visible swelling in front of her neck. Her vital signs are:
Blood pressure 140/70 mm Hg, Pulse 120/min irregular, Respiratory rate 16/min and
Temperature 98.6 F.
a) Which rhythm abnormality is present? Which drug would you prefer to control
her heart rate?
b) Name two treatment options used to treat the underlying disease.
c) Name one dermatological association of this illness. [Annual 2016]
3. A 40-year-old female is admitted to ICU for her complaints of recurrent palpitations.
Her pulse is 120/min, irregularly irregular. There are no added heart sounds on
auscultation. She has a visible swelling in her neck and has prominent bulging eyes.
a) Which rhythm abnormality you suspect in this patient and what risks are
associated with it?
b) What is the likely diagnosis?
c) Give one dermatological association of the disease. [Supple 2015 held in 2016]
4. A 33-year-old male on his routine medical check-up is being evaluation for thyroid
status. His thyroid function tests show: Serum TSH 6 mu/L (0.2-4.5 mu/L), T4 16
pmol/L (9-21 pmol/L), T3 2 pmol/L (0.9-1.45 pmol/L)
a) What is the abnormality in test results?
b) What other tests will you perform in this patient? [Annual 2015]
5. A 25-year-old female is admitted with complaints of weight loss and loose stools. She
says that she eats well but has noticed significant weight loss over the past few
months. She looks anxious and has fine tremors of her out-stretched hands which
are warm and sweaty. On the evening of her admission, she complains of severe
chest tightness and palpitations. Her heart rate is 140/min and pulse is irregularly
irregular.
a) What is the likely cause of her palpitations? Hira_Fj'23
b) What is the most likely diagnosis of this patient?
c) Which drugs can be used to treat the underlying disease once her heart rate is
controlled? [Supple 2014 held in 2015]
6. A 28-year-old female presented to medical OPD with complaints of amenorrhea and
weight gain. She also complained of loss of appetite, constipation, lethargy and
sluggishness in daily activities. On examination, her blood pressure is 130/80 mm Hg.
She dry skin and periorbital swelling.
a) What is the diagnosis?
b) How will you investigate her?
c) What is the treatment? [Annual 2014]
7. A senior civil servant was persuaded to seek medical advice because of his increasing
bizarre behavior. He had slowed up mentally becoming indecisive. He complained of
lack of energy. His appearance had changed, his skin appearing sallow and hair
coarse lacking luster. On examination, his pulse rate 56/min regular, blood pressure
130/80 mm Hg, there was no goiter, his ankle jerk showed slow relaxation.
a) What is the diagnosis?
b) Give the important investigation to confirm the diagnosis.
c) How would you treat this illness? [Annual 2013]
8. A 34-year-old woman presents to gynecology OPD with four months history of
menorrhagia and weight gain. She also was becoming sluggish in her daily activities
and had loss of appetite, constipation and was becoming hard of hearing too. On
examination, her pulse was 60/min regular, low volume and BP was 135/90. Her skin
was dry and she had peri-orbital puffiness on her face.
a) What is the diagnosis?
b) What three investigations will you ask for?
c) What is the treatment? [Supple 2012 held in 2013]
9. A 24-year-old lady with four months history of weight loss, palpitations, diarrhea and
heat intolerance. On examination, thin built, nervous look lady, fine tremors and
sweaty palm. Most likely the patient is suffering from thyrotoxicosis and Graves’
Disease.
a) What four further physical signs would you like to elicit?
b) Briefly discuss the management. [Supple 2011 held in 2012]
10. A 30-year-old lady presented in OPD with complaints of fatigue, weight gain,
menorrhagia and constipation. On examination, she is pale with BMI 30, thickened
coarse facial features and peri-orbital puffiness.
a) What is the most likely diagnosis? Hira_Fj'23
b) Enlist four physical signs.
c) Enlist four associations of this illness. [Annual 2011]
11. A 22-year-old girl is seen in endocrine clinic with two weeks history of palpitations,
tremor and sweating. On examination, pulse is 110/min regular, thyroid is enlarged
but non-tender and thyroid bruit is audible.
a) What is the diagnosis?
b) List two important investigations.
c) Mention two options in her treatment. [Supple 2010 held in 2011]
12. A 45-year-old woman present with progressive weakness, fatigue and amenorrhea in
the past 10 years. She does not give any history of fever, dyspnea or significant
weight loss. Physical examination reveals pallor but no lymphadenopathy or
hepatosplenomegaly. Blood pressure was 90/80, pulse 70 bpm, temperature 98 F
and respiratory rate 12/min. Her previous investigations include CBC, urine, RFTs,
LFTs, X-ray chest, ECG and abdominal ultrasonography. All were reported normal
except hemoglobin of 10 g/dl with normochromic normocytic picture. Thyroid
functions were performed which showed: Serum T3: 65 ng/dl (normal 95-195),
serum free T4 5 pmol/L (normal 9-24) and TSH 0.3 milliunits per liter (normal 0.4-6).
a) What is the most likely diagnosis?
b) Name four blood tests to confirm your diagnosis.
c) What treatment will you advise to this lady? [Annual 2010]
13. A 30-year-old female complains of lethargy, lassitude and weight gain. On
examination, she is pale, puffy and has slow slurred speech. Her pulse is 60/min and
blood pressure are 85/75 mm Hg.
a) What is the most likely diagnosis?
b) Name three diagnostic steps to confirm the diagnosis.
c) What other three signs will you look for?
d) Name two complications if the condition is left untreated. [Annual 2007]

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DELAYED PUBERTY:
∴ If Onset of physical features of sexual maturation hasn’t occurred by a chronological age that
is 2.5 SD above the national average
Pathophysiology:

Hira_Fj'23

Clinical Features:
∴Constitutional delay means ”clock is running slow”
∴Hypogonadotropic hypogonadism means pathology in hypothalamus or pituitary
∴Hypergonadotropic Hypogonadism means pathology in gonads

Constitutional Delay of Puberty:

∴Children are 2SD below the mean height for their age through out childhoood
∴H/O Delayed puberty in siblings or parents
Hira_Fj'23
∴Xray shows bone age less than chronological age
Investigations:
∴LH, FSH and estradiol in girls
∴Testosterone in boys
∴Chromosome analysis
∴If gonadotropic concentration is low then:
I)Constitutional delay
ii)Hypogonadotropic hypogonadism
∴Xray
∴CBC RFT LFT TFT celiac disease auto Ab
Management:
∴To induce puberty:
Low doses of oral estrogen in girls
or testosterone in boys
High doses can cause early fusion of epiphysis
UHS PROF:
Q. The parents of a 6 years old boy are worried about his slow growth although they said he
was growing normally for the first 2.5 yrs. He is otherwise perfectly healthy. Histiry revealed
father also had same growth pattern. Puberty was delayed but final height was normal.(2014
Supple)
A) Diagnosis?
B) Plan of diagnostic Approach?
Q. The parents of a 8 yrs old boy are worried about his height. He is otherwise well looking.
But looks short of his age. His height is 115cm and wt is 20kg
a) Differential diagnosis?
B) Investigations?
(2012 supple)

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MALE HYPOGONADISM:

Clinical Features:
∴Loss of Libido
∴Lethargy with Muscle Weakness
∴Decreased Frequency of Shaving
∴Gynecomastia
∴Infertility
∴Delayed Puberty
∴Osteoporosis
∴Anemia of Chronic Disease Hira_Fj'23
Investigations:
∴Low Fasting 0900 hrs serum testosterone
∴LH and FSH to differentiate between hypogonadotrophic and hypergonadotrophic
hypogonadism
Management:
∴Testosterone replacement to prevent osteoporosis and restore muscle power and libido

*Do not consider patch as it’s not in 24 ed

*Testosterone therapy can aggravate prostatic carcinoma, so prostate specific antigen should be
measured before therapy
*Androgen replacement can cause polycythemia
*Testosterone replacement inhibits spermatogenesis

GYNECOMASTIA:
Pathophysiology:
Hira_Fj'23

∴Due to imbalance between androgen and estrogen activity

∴Androgen deficiency or Estrogen excess
∴Prolactin Excess alone does NOT cause gynecomastia
∴In older men due to decreasing testosterone

Investigations:
∴USG or Mammography to distinguish between gynecomastia and adipose tissue
∴Random Blood sample for testosterone
∴LH, FSH, Estradiol, Prolactin and hCG
∴Elevated estrogen is in testicular tumors and hcG producing neoplasm
Management:
∴Reassurance
∴Surgical excision
∴Androgen replavement
∴Anti estrogen tamoxifen

PRECOCIOUS PUBERTY:
∴ early development of any secondary sexual characteristics before the age of 9 years in a boy
and 6–8 years of age in a girl.

Pathophysiology:
1)Central PP is due to the early maturation of the hypothalamic–pituitary–gonadal axis and
thus is gonadotrophin-dependent. It is more common in girls than boys and often no structural
cause is identified, i.e. ‘the physiological clock is running fast’
2) Structural causes are found
more commonly in younger children and in boys and include:
• central nervous system (CNS) tumours such as astrocytomas, germ-cell tumours secreting
human chorionic gonadotrophin (hCG) and hypothalamic harmartomas
• CNS injury caused by infection, inflammation or trauma/ surgery
• congenital CNS structural abnormalities
3) Pseudo (or peripheral) PP is much less common, and is due to excess sex steroids in the absence of
pituitary gonadotrophins, with causes including congenital adrenal hyperplasia and McCune–Albright
syndrome

Investigations:
Hira_Fj'23
1)basal and GnRH-stimulated gonadotrophin levels

2) Imaging of the CNS is required in cases of central PP, while adrenal and ovarian imaging is
indicated in peripheral PP

Management:

Long acting GnRh analgoues

PCOS:
Criteria:
2 out of 3 features:
i)Menstrual Irregularity
ii)Androgen excess (clinical or biochemical)
iii)Multiple cysts in ovary
Clinical Features:

Management:
∴Wt Loss
∴Metformin (restore ovulatory cycle in obese women by reducing insulin resistance)
*High estrogen can cause endometrial hyperplasia
∴Progestogens administered cyclically to induce endomaterial shedding
∴For Hirsutism :Electrolysis and Laser Treatment
∴ Eflornithine cream inhibits ornithine decarboxylase in hair follicles
and may reduce hair growth when applied daily to affected
areas of the face
Hira_Fj'23
______________________________________________________________________________________________________________

PARATHYROID HORMONE:
HYPERCALCEMIA:
Pathophysiology:

Hira_Fj'23

Clinical Features:
∴Polyuria
∴Polydipsia
∴Renal Colic
∴Lethargy
∴Anorexia, Nausea
∴Dyspepsia
∴Peptic Ulceration
∴Constipation
∴Depression
∴Drowsiness
∴Impaired Cognition
∴Bones, Stones and Abdominal Groans
∴HTN
Step up:

Hira_Fj'23
HYPOCALCEMIA:
Better in Step up:

Hira_Fj'23
MANAGEMENT OF HYPERPARATHYROIDISM:
∴Surgery with excision of solitary parathyroid adenoma or hyperplastic glands
∴Surgery indications : Symptomatic pt or with complications
∴Cincalcet is calcimimetic (enhances sensitivity of calcium sensing receptors)

Parathyroid Disease—UHS Past Prof

1. A 60-year-old female has polyuria, polydipsia and history of renal stones. She
presents in Emergency Room with anorexia and constipation for one week and
drowsiness for one day. Her serum calcium levels are 13 mg/dl.
a) What is the likely diagnosis?
b) Enumerate the management of her calcium levels. [Annual 2015]
2. A 16-year-old girl presents with irritability, psychiatry symptoms, fits. CT brain shows
basal ganglia calcification. She has low serum calcium, high serum phosphate and
low urinary calcium.
a) What is the diagnosis? Hira_Fj'23
b) List three clinical signs of hypocalcemia.
c) Give two ways of treating hypocalcemia. [Annual 2008]

FAMILIAL HYPOCALCIURIC HYPERCALCEMIA:

∴AD Disorder
∴Caused by Inactivating mutations in one of the alleles of calcium sensing receptor genes
∴So more Calcium is req to suppress PTH Secretion
∴ Mild Hypercalcemia and PTH at upper end
∴Increased tubular reabsorption of calcium
∴Hypocalciuria
___________________________________________________________________________________________________________

ADRENALS:
Hira_Fj'23
 Hira_Fj'23

CUSHING SYNDROME:
Pathophysiology:
∴Due to Excessive activation of glucocorticoid receptors
i)Excessive Intake of glucocorticoids
ii) Pituitary adenoma secreting ACTH
iii)Ectopic ACTH
iv)Tumor

Clinical Features:

Hira_Fj'23
 Hira_Fj'23

Investigations:
∴Serum cortisol of <100nmol/l (3.6 micro gram /dL) at 0800-0900 hrs shows exogenous
glucocorticoid use
CRITERIA:
2/3 tests :
I) Failure to suppress serum cortisol with low doses of oral dexamethasone
ii) Loss of normal circadian rhythm of cortisol (elevated night serum)
iii)Increased 24 hr urine free cortisol
Hira_Fj'23
 Hira_Fj'23

∴ ONDST = Overnight dexamethasone suppression test:

administer 1mg dexamethasone at 2300 hrs and measure serum cortisol at 0900 hrs next day
∴LDDST = low dose dexamethasone suppression test
Administer 0.5 mg dexamethasone 4 times daily for 48 hrs and measure serum cortisol next
day
ABNORMAL if Serum cortisol is >50nmol/L
*Stop estrogen beforehand
∴ACTH is measured at 0900 hrs in morning
∴HDDST= adminsiter 2mg dexa in 48 hrs 4 times
STEP UP:
 Hira_Fj'23

Management:
1. Iatrogenic Cushing syndrome: tapering of glucocorticoid
2. Pituitary Cushing syndrome: surgery (transsphenoidal ablation of pituitary adenoma)—
usually safe and effective
3. Adrenal adenoma or carcinoma: surgery (adrenalectomy )

____________________________________________________________________

ADDISON’s DISEASE
 Hira_Fj'23

PATHOPHYSIOLOGY:

∴
CLINICAL ASSESMENT:
 Hira_Fj'23
INVESTIGATIONS:
∴Random Blood Sample for serum cortisol, ACTH
∴Low Plasma Cortisol
∴Short ACTH Stimulation test

1. Decreased plasma cortisol level

2. Plasma ACTH level—if low, this implies a secondary adrenal insufficiency (ACTH
dependent cause).
3. Standard ACTH test.
a. This is a definitive test for primary adrenal insufficiency; give an IV infusion of
synthetic ACTH, and measure plasma cortisol at the end of the infusion.
b. In primary adrenal insufficiency, cortisol does not increase sufficiently.
c. In secondary adrenal insufficiency, cortisol fails to respond to ACTH infusion,
as in primary adrenal insufficiency (the adrenals are not used to being stimulated, so they do
not respond right away). If the test is repeated for 4 or 5 days, the adrenals eventually respond
normally.
4. Perform imaging tests (MRI of brain—pituitary/hypothalamus) if secondary or tertiary
adrenal insufficiency is diagnosed.

MANAGEMENT:

Hira_Fj'23

________________________________________________________________________________

HYPERALDOSTERONISM:
Adrenal Disease—Past Prof UHS Hira_Fj'23

Q. A 10 yrs old child presented with wt gain and increased apetite for last 3 months. No H/O
vomiting, visual disturbance but mild headache present.Wt 50kg height 130cm. His face was
plethoric and protruberant abdomen with linear reddish marks.
A) Diagnosis?
Cushing
B)What bedside clinical method should be performed?
C)Investigations?
1. A 34-year-old lady presented in emergency ward with history of generalized
weakness, nausea, vomiting and low-grade fever. She is cold and somewhat sweaty.
On further inquiry, she states that she has lost significant weight and has always
been feeling tired. She also reports that her skin color was fair which has recently
darkened over the body. On examination, temperature is 100 F, heart rate 88, BP
85/55, RR 20. Dark pigmentation is present, especially over elbow and skin creases.
Rest of examination is normal. Based on history and examination,
a) What is the diagnosis?
b) What investigations would you order?
c) Write down the management steps. [Annual 2019]
2. A 35-year-old lady was treated for disseminated tuberculosis from which she
survived. After initial recovery she started becoming weak and lethargic. Recurrent
tuberculosis was ruled out. She was now losing weight with pigmentation of skin.
She also had frequent nausea and vomiting and food intake was reduced. She also
had frequent bouts of diarrhea. On examination, her blood pressure was 90/60 mm
Hg.
a) What is the most likely diagnosis?
b) What is screening test for your diagnosis? Hira_Fj'23
c) How will you confirm your diagnosis? [Supple 2017 held in 2018]
3. A 40-year-old lady presents with fungal infection of her nails. You noticed central
obesity with wasting of arms/legs, generalized bruising and purple striae on her
abdomen. Blood pressure is 150/95 mm Hg, blood sugar fasting 135 mg/dl.
a) What is the most probable diagnosis?
b) List the common clinical features and complications of this condition.
c) Name the investigations to confirm your diagnosis and to find out etiology.
[Annual 2017]
4. A 32-year-old female starts complaining of tiredness, weakness, malaise and weight
loss. Lately she has developed abdominal pain, vomiting and fainting spells. She is on
replacement thyroxine for her hypothyroidism. On examination, she is thin, having a
dark complexion. Her palms are pallor with dark palmer creases. Her supine BP is
105/75 mm Hg which drops to 90/55 mm Hg on standing. Serum Na is 128 mmol/L, K
is 5.4 mmol/L, urea is 45 mg/dl, creatinine is 1 mg, T3 T4 and TSH are normal.
a) What is the most likely diagnosis?
b) What two blood tests will confirm the diagnosis?
c) What is the cause of her fainting spells? [Supple 2016 held in 2017]
5. A 16-year-old girl presented with two months history of tiredness and lethargy. She
had noticed that she becomes dizzy up when standing up. On examination, she had
pigmentation of buccal mucosa and palmar crease and an old appendectomy scar.
Her BP was 120/80 mm Hg lying down but fell to 90/50 mm Hg when she stood up.
Investigations: serum sodium 128 mEq/L, potassium 5.4 mEq/L, urea 52 mg/dl, blood
glucose 54 mg/dl, short synacthen test: 09 00 hours plasma cortisol 150 mmol/L
(280-700 mmol/L), 30 minutes after 160 mmol/L, 60 minutes after 160 mmol/L,
plasma ACTH 09 00 hours 500 ng/L (10-90)
a) What is the diagnosis?
b) Give the name of two drugs with duration to be used in the treatment of his
illness. [Annual 2013]
6. A 35-year-old man was brought to medical emergency with complains of nausea,
vomiting, diarrhea and mild abdominal pain. On examination, his blood pressure
80/50 mm Hg, pulse 102/min, temperature 98.6 F, respiratory rate 16/in, he had
increased pigmentation on palmar creases & knuckles. Blood sugar 67 mg/dl, serum
sodium 125 mmol/L and serum potassium 5.3 mmol/L.
a) What is the most likely diagnosis?
b) Enlist four causes of this condition.
c) How will you confirm your diagnosis?
d) How will you treat this case?
e) What advice will you give for future? [Annual 2012]
7. 42-year-old lady known case of rheumatoid arthritis and bronchial asthma seen in
medical OPD with six months history of lethargy, weight gain and weakness. On
examination, plethoric face, truncal obesity, hirsutism and acne form rash over her
face.
a) What is the most likely diagnosis and its etiology?
b) List four other expected physical signs in this patient related to your diagnosis.
c) What could be the other causes of your diagnosis and how will you investigate
the patient? [Supple 2011 held in 2012] Hira_Fj'23
8. Write a brief account on the pathophysiology, causes, clinical features & treatment
of primary hyperaldosteronism. [Supple 2009 held in 2010]
9. A 25-year-old ill man has attacks of headache, nervousness, palpitations, sweating
and apprehension. His blood pressure is usually 170-180/110-120 during these
attacks. His examination shows black pigmented spots on the skin.
a) What is the most likely diagnosis?
b) What investigations would you like to do? [Annual 2009]
10. A 38-year-old widow presents in OPD with complaints of fatigue, malaise, weight loss
and anorexia. There is also history of postural dizziness, intermittent to mild
abdominal pain and darkening of her complexion. Six years ago, she was treated for
abdominal TB. Physical examination reveals thin, lean and weak looking female of
dark complexion, her palmer creases and back of elbows are dark. There is no
jaundice or hepatosplenomegaly. Standing blood pressure is 80/50 mm Hg, LFTs, Hb,
TLC and DLC are normal. Na 131 mmol/L, K 4.9 mmol/L, blood glucose random 85
mg/dl.
a) What is the most likely diagnosis?
b) What one laboratory test would confirm the diagnosis?
c) What is the likely cause of this primary diagnosis? [Annual 2008]
11. A 29-year-old comes to emergency department because of palpitations and severe
headache. He has had atleast two similar episodes for the past one and half months.
He was prescribed some pills but presented with recurrence of symptoms after few
hours. Physical examination reveals a thin young male who appears anxious and
diaphoretic. Blood pressure is 126/84 mm Hg, temperature is 98 F, pulse was
86/min, RR was 16/min during his prior visit to emergency department. His blood
pressure was 160/98 mm Hg. Thyroid functions are normal.
a) What is the most appropriate next step?
b) What is the most likely diagnosis?
c) Which antihypertensive drug is suitable for this patient? [Supple 2007 held in
2008]
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Hira_Fj'23

Congenital Adrenal Hyperplasia:

Pathophysiology:
∴Inherited defects in cortisol biochemical pathway --> Decreased cortisol--> Inc ACTH
ACTH--> Stimulates steroid production --> Adrenal Hyperplasia
∴Due to 21 hydroxylase deficiency

∴Accumulation of progesterone --> Forms adrenal androgens

∴Deficiency of glucocorticoids and mineralocorticoids

Clinical Features:
1. Decreased cortisol and aldosterone production are the main events. Increased
ACTH secretion (due to the lack of negative feedback) causes adrenal hyperplasia.
2. As precursors of cortisol and aldosterone build up, they are shunted toward the
synthesis of androgens (e.g., DHEA, testosterone), causing virilization.
3. Virilizing features.
a. Female infants—born with ambiguous external genitalia but normal female
ovaries and uterus.
b. Male infants—no genital abnormalities.
4. Salt wasting form (more severe form of disease).
a. Emesis, dehydration, hypotension, and shock—can develop in first 2 to 4
weeks of life.
b. Hyponatremia and hyperkalemia—due to lack of aldosterone.
c. Hypoglycemia—due to lack of cortisol

Investigations: Hira_Fj'23
Elevated 17 hydroxyprogesterone
Management:
1.Medically—Use cortisol and mineralocorticoid; this shuts off the excess ACTH
secretion (via negative feedback). Beware of undertreatment and overtreatment.
2. Surgically—Early correction of female genital abnormalities is generally recommended.

Prof UHS:
A 1 month old baby has been brought to emergency with C/O repeated episodes of vomiting
since birth. Birth wt was 3kg. No H/O Diarrhea and Fever. O/E baby is dehydrated and lethargic.
Current wt is 2.8kg. Paediatrician was unable to define gender of baby
a) Diagnosis
b)4 investigations
c)4 Management steps
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∴ PHEOCHROMOCYTOMA:
Pathophysiology:
∴Catecholamine secreting neuro endocrine tumors(Epinephrine, Norepinephrine)
Clinical Features:
∴Complications of HTN i.e Stroke, MI, Hypertensive retinopathy, left ventricular failure

Investigations:
∴Measure metabolites in blood and urine
1. Urine screen—test for the presence of the following breakdown products of catecholamines:
a. Metanephrine
b. Vanillylmandelic acid, homovanillic acid, normetanephrine
2. Plasma metanephrines have been proposed by some investigators as a superior test to urine
metanephrines, especially when clinical suspicion is high
3. Urine/serum epinephrine and norepinephrine levels—if the epinephrine level
is elevated, the tumor must be adrenal or near the adrenal gland (organ of Zuckerkandl)
because nonadrenal tumors cannot methylate norepinephrine to epinephrine
4. Tumor localization tests—CT, MRI
Hira_Fj'23
Management:
∴ Surgical tumor resection with early ligation of venous drainage is the treatment of choice.
Ligation lowers the possibility of catecholamine release/crisis by tying off drainage. Patients
should be treated with -blockade (typically phenoxybenzamine) for 10 to 14 days prior to
surgery as well as -blockade (i.e., propranolol) for 2 to 3 days prior to surgery. The -blockade
is used to control BP, and the β-blockade is used to decrease tachycardia. Laparoscopic
adrenalectomy can be safely performed for most small- to medium-sized pheochromocytomas.
∴For metastatic tumors : Debulking surgery, Radionuclide therapy ,Chemotherapy

_________________________________________________________________________

PROLACTINOMA
∴In pre menopausal women are microadenomas
∴Prolactinomas can secrete GH and cause acromegaly
Management:
∴Dopamine Agonist Drugs (Bromocriptine, Cabergoline) reduce serum prolactin and cause
tumor shrinkage
∴trans sphenoidal surgery to remove microadenoma
UHS PROF :
A 35-year-old woman presents with history of discharge from both nipples. She
describes the discharge as opaque, whitish color without any blood or local
tenderness. She gave birth to a baby 3 years ago and breast fed her for 18 months
but since then she is amenorrheic. Lately she has started having early morning
headache and gradual dimness of vision. She says that this dimness is particularly
pronounced in her temporal field of vision. Her investigations showed: TSH 2.5, FSH
undetectable, LH undetectable, prolactin 180. How will you investigate and manage
her? [Annual 2009]
Hira_Fj'23
ACROMEGALY
Pathophysiology:
∴Due to GH from pituitary tumor
Clinical Features:

Investigations:
∴GH Levels during Oral glucose tolerance test :
In Normal subjects GH suppresses below 0.5 microgram/L
Acromegaly:Doesn’t duppress
∴Measuring serum IGF-1
∴Elevated Prolactin
Management:
∴Trans Sphenoidal Surgery
∴Somatostatin or octreotide analog to reduce GH
∴Radiotherapy
UHS PAST Prof
Q. A 55-year-old gentleman presents with headache. Doctor notes his thick and coarse
facial features and inquired about it. He said that his hands, feet and face started
becoming large about 8-10 years back. He shows his photo 12 years earlier in which
he had sharp facial features. Doctor noted his large spade like hands and feet. Kindly
answer the following questions.
a) What is the most likely diagnosis?
b) Give two investigations to confirm your diagnosis.
c) Give one surgical and one medical treatment modality.
[Supple 2017 held in 2018]
Q.38-year-old male gradually noticed change in his body appearance in the form of
increasing size of head and feet. He is also complaining of headache, visual
disturbance and excessive sweating. On examination, he has prominent supraorbital
ridges and large lower jaw, blood pressure is 170/100 mm Hg. His blood sugar
random is 200 mg/dl.
a) What is the most likely diagnosis? Hira_Fj'23
b) List four important investigations to confirm it.
c) Give two main options of treatment. [Annual 2011]

Q.A 35-year-old woman has noted that ring on her finger has become tight and her
shoe size has increased in the last year. She complains of joint pain and numbness
and tingling in her thumb and first two fingers of the right hand. On examination, she
is hypertensive with oily skin. Her blood glucose is 11 mmol/L.
a) What is the most likely diagnosis?
b) What is the cause of her hand symptoms?
c) What would you find on her eye examination? [Supple 2008 held in 2009]

______________________________________________________________________

DIABETES INSIPIDUS:
Pathophysiology:
∴Cranial DI:
Deficient production of vasopressin by hypothalamus
∴Nephrogenic DI:
Renal tubules unresponsive to vasopressin
Clinical Features:
∴Polyuria (>3L / 24 hrs)
∴Thirst & Polydipsia
Investigations:
C. Diagnosis
1.Urine—low specific gravity and low osmolality indicate DI
2. Plasma osmolality
a. Normal: 250 to 290 mOsm/kg
b. Primary polydipsia: 255 to 280 mOsm/kg
c. DI: 280 to 310 mOsm/kg
3. A water deprivation test (dehydration test) is required to make the diagnosis
a. Procedure
• Withhold fluids, and measure urine osmolality every hour
• When urine osmolality is stable (30 mOsm/kg hourly increase for 3 hours),
inject 2 g desmopressin subcutaneously. Measure urine osmolality 1 hour
later
b. Response
4. ADH level (not the test of choice; takes a long time to get results)
a. Low in central DI
b. Normal or elevated in nephrogenic DI
2. Nephrogenic DI—treat with sodium restriction and thiazide diuretics.
a. These deplete the body of sodium, which leads to increased reabsorption of
sodium and water in the proximal tubules.
b. The reabsorption of sodium and water in the proximal tubules means that less
water reaches the distal tubules, leading to decreased urine volume

Hira_Fj'23

Management:
1. Central DI
a. Desmopressin (DDAVP) is the primary therapy and can be given by nasal spray,
orally, or by injection.
b. Chlorpropamide increases ADH secretion and enhances the effect of ADH.
c. Treat the underlying cause
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MULTIPLE ENDOCRINE NEOPLASIA