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Exam Title : Endocrine System, CNS and Neuromuscular Disorders, Genetic Disorders and Inborn Metabolic Error


Number Of Question : 44
Question #1: A year five old boy presents with Precocious Puberty and a Blood Pressure of 130/80 mm Hg. Estimation of which of the following will help in diagnosis
↑ 17 Hydroxy progesterone
↑Cortisol
↑ Aldosterone
↑ 11 Deoxycortisol
Question #2: A child brought to the paediatric OPD with fever of 24 hours duration. History reveals 3 episodes of chest infection and passage of foul smelling bulky stools. The most probable diagnosis is
Cystic Fibrosis
Maple syrup disease
Bilirubin congugation defect
CrigglerNajjar syndrome
Question #3: A boy presented with weakness in lower limbs, calf hypertrophy, Positive Grower’s sign and elevated CPK values of 10,000. The most likely diagnosis is
Duchenne Muscular Dystrophy
Spinal Muscular Atrophy
Myotonia congenital
Myotonic Dystrophy
Question #4: A 5-year old boy presents with public hair development. He is tall and has increased pigmentation of his genitalia and phallic enlargement. Blood pressure is 130/90 mm Hg. Measurement of which of the following hormones would be most likely to diagnostic?
increased 17-beta hydroxyl progesterone
Increased cortisol
Increased aldosterone
Increased 11-deocycortisol
Question #5: Right Sided Isomerism is associated with
Asplenia
One spleen
Two spleens
Polysplenia