Case 1

Female , 30 Yeas, Married +2 , Housewife On estrogen-containing contraceptive pills Complaints (Symptoms):Loss of weightIrritableUncomfortable with summer weatherExamination (Signs):Pulse: 130 Blood pressure: 155/95Palm sweatyFine tremors of the fingers when her arms are stretchedNo eye signsThyroid gland enlarged – No nodules

Thyroid Function TestsAnalysis Result Reference RangeTSH 0.1 mIU/L 0.3 – 0.5Free T4 20 pmol/L 10-27Total T4 160 nmol/L 70-150Free T3 20 pmol/L 3- 9Total T3 6 nmol/L 1.2-2.8

Case 2Male , 38 Yeas, Married + 3, EngineerAlready diagnosed as Graves disease & began treatment 3 months agoHe came to the outpatient clinic for follow up of his treatment as now, he is clinically normal

Thyroid Function TestsAnalysis Result Reference Range

TSH <0.1 mIU/L 0.3 – 0.5Free T4 5 pmol/L 10 - 27Total T4 100 nmol/L 70-150Free T3 2.9 pmol/L 3- 9Total T3 0.9 nmol/L 1.2-2.8

Case 326 Years, Female, Single, Student, living in Al-Wahat Al-Kharja- West Desert, EGYPTComplaints:Tired & feeling low (depressed) all the timeGaining weight Discomfort in her neckExamination:Pulse: 55 BP: 108/65Palm DryThyroid examination: Goiter (Diffusely Enlarged)

Thyroid Function TestsAnalysis Result Reference RangeTSH 48 mIU/L 0.3 – 0.5Free T4 8 pmol/L 10 - 27Total T4 56 nmol/L 70-150Free T3 6 pmol/L 3- 9Total T3 1.9 nmol/L 1.2-2.8

Case 425 year old Female, Constant fatigue, Lethargy, Depression. Small in statureNO typical symptoms of hyperthyroidism. ExaminationEnlarged thyroid gland (goiter)Thyroid Function Tests:Elevated blood free T3 & T4 Elevated blood TSH

The patient exhibits symptoms of hypothyroidism (including enlarged thyroid gland ),BUT thyroid hormone levels are elevated.

This pattern can only beexplained by Resistance of Target Cells to Thyroid hormone,

as for example,

a mutation of the receptor decreasing its binding affinity for hormone

Case 5• A 27 years old man presents to his physician 3 weeks after his thyroid surgically

removed for a thyroid cancer. • However, since he went home from the hospital, he noticed painful, involuntary

muscular cramping. • He also felt numbness and tingling around his mouth & in his hands and feet. His

parents said that he was irritable for the last 2 weeks. • He is on levothyroxine medication. Clinical Examination: Well-healing thyroidectomy scar No palpable masses in the thyroid bed Blood pressure cuff inflated above systolic pressure induces involuntary muscular contracture in the ipsilateral hand after 60 seconds (Trousseau`s sign) Tapping on the face interior to the ears cause twitching in the ipsilateral corner of the mouth (Chevostek`s sign) Clinical Chemistry Lab Investigations: Calcium: 5.6 mg/dl (N: 8.5 – 10.2) Albumin: 4.1 g/dl (N: 3.5 – 4.8) PTH: < 1 pg/ml (N: N: 11 – 54)

The parathyroid glands were removed during thyroidectomy

PTH undetectable

Hypocalcemia

Clinical Manifestations of hypocalcemia

(increased reflexes & muscular cramping)

Case 6

A 5 years old child His parents complained that he has a delay in proper walking and bowing of extremities

Lab investigations : Renal Failure (High Creatinine Blood Level)

Hypocalcemia

Diagnosis ??Treatment ??

Case 7A case with clinical manifestations of osteomalacia

X-ray showed generalized poor calcification of his skeleton.

Lab investigations: Low blood calcium level

Normal level of active form of vitamin D

Expected cause of this case is ???

Vitamin D receptors defect

Case 8 A 6-year old girl is brought to a pediatrician by her parents They reported that her height is not progressing as they think it should (or like it

did for her 8 year old sister & her legs look bowed. She takes no medications Family history: Some cousins has the same problem Lower Limb X-Ray: Bowing of long bones Generalized demineralizations

Lab Investigations: Calcium: 7.2 mg/dl (N: 8.5 – 10.2) Albumin: 4.1 g/dl (N: 3.5 – 4.8) PTH: 866 pg/dl (N: 11 – 54) 25 HCC: 35 ng/dl (N: 20- 57) 1, 25 DHCC: less than 1 pg/ml (N: 20 – 75)

Pseudohyperparathyroidism

In which there is genetic mutations in the stimulatory G-protein

IN ACTIVE G Protein

No activation of adenylate cyclase

NO cAMP

NO EFFECT OF PTHHYPOCALCEMIA

INCREASE OF PTH (HYPERPARATHYROIDISM WITH HYPOCALCEMIA)

TO BE CONFIRMED by

MOLECULAR GENETIC ANALYSIS

Case 9A 37 years old housewife

Complaining of: Headache, Weakness on trivial efforts, Wasting in proximal limb muscles Polyuria Polydipsia (drink water more than before)On Examination: BP: 165/105 BMI: 33Lab Investigations:Fasting Blood Glucose: 160 mg/dl (N: 70 – 110 )Urine glucose: nil

Adrenal Function Tests:Serum Cortisol at 8:00 AM : 410 nmol/L (N: 150 - 550)Serum Cortisol at 10:00 PM: 390 nmol/L (N: up to 200)

Dexamethazone Suppression Test:Serum Cortisol: Basal (before dexamethazone): 420 nmol/LAfter dexamethazone: 410 nmol/L

Insulin hypoglycemic Test:Serum Cortisol Basal at blood glucose 4.5 mmol/L: 435 nmol/LAfter blood glucose 1.5 mmol/L: 480 nmol/L

ACTH at 8:00 AM: less than 2 ng/L (N: 7-51 )

Case -1024 years old FemaleComplaints: Weakness, fatigue, nausea & vomitingExamination Deep tanning of both exposed and unexposed parts of the body and dark pigmentation inside the mouth.Lab Investigations:Low blood cortisol High TSHLow blood Na+ and Cl− & high K+

Case 11:Parents of a 15 years old boy was reported by his school that he was found drowsy & they have got to take him to hospital according to the advice of his school doctor.

In the hospital, his mother told the doctor that her son seemed unusually thirsty for the last 3 months & she thought that he had lost weight. She admitted also that on the morning before leaving for school, he was complaining of abdominal pain & discomfort.

Examination: Semiconscious Deep & rapid respiration Pulse rate 120 beats/minute BP: 90/50 Cold extremities

What investigations were recommended for him??What is the diagnosis of this case??What is the treatment ??

Clinical Biochemistry Lab InvestigationsBlood Chemistry• Random Blood Glucose: 550 mg/dl • Urea: 160 mg/dl (N: 20 -40)• Na+: 127 mmol/L (N: 135 – 145)• K+: 6.9 mmol/L (N: 3.5 – 4.5)• pCO2: 2.9 kPa (N: 4.4 – 6.1)• HCO3- : 7 mmol/L (N: 21 – 27.5)• pO2: 14 kPa (N: 12 – 17)

Urine Analysis:• Urine Dipstick Test: - Glucose +++ - Ketone +++ - Albumin ++