Q.1 Which of the following is the most common cause of congenital hypothyroidism worldwide?
Iodine deficiency
Thyroid agenesis
Dyshormonogenesis
Pituitary insufficiency
Explanation - Globally, iodine deficiency remains the leading cause of congenital hypothyroidism, though in developed nations, thyroid dysgenesis is more common.
Correct answer is: Iodine deficiency
Q.2 In congenital adrenal hyperplasia due to 21-hydroxylase deficiency, which hormone is decreased?
Cortisol
Testosterone
Aldosterone
ACTH
Explanation - 21-hydroxylase deficiency impairs cortisol and aldosterone synthesis, leading to adrenal hyperplasia and increased androgen production.
Correct answer is: Cortisol
Q.3 Which of the following is the most common cause of pediatric diabetes mellitus?
Type 1 diabetes mellitus
Type 2 diabetes mellitus
MODY
Secondary diabetes
Explanation - Type 1 diabetes mellitus is the most common form in children, caused by autoimmune destruction of pancreatic beta cells.
Correct answer is: Type 1 diabetes mellitus
Q.4 A 10-year-old child presents with polyuria, polydipsia, and weight loss. Blood glucose is 350 mg/dL. What is the likely diagnosis?
Diabetes insipidus
Type 1 diabetes mellitus
Type 2 diabetes mellitus
Cushing’s syndrome
Explanation - The classic triad of polyuria, polydipsia, and weight loss in a child with hyperglycemia strongly indicates type 1 diabetes mellitus.
Correct answer is: Type 1 diabetes mellitus
Q.5 Which hormone deficiency leads to short stature with delayed bone age but preserved weight?
Growth hormone
Cortisol
Insulin
Thyroxine
Explanation - Growth hormone deficiency presents with short stature, delayed bone age, but normal weight due to adequate nutrition.
Correct answer is: Growth hormone
Q.6 Which test is used to confirm growth hormone deficiency in children?
Fasting glucose
Oral glucose tolerance test
Insulin tolerance test
HbA1c
Explanation - The insulin tolerance test is the gold standard for diagnosing growth hormone deficiency by inducing hypoglycemia to stimulate GH release.
Correct answer is: Insulin tolerance test
Q.7 Which of the following is NOT a feature of rickets?
Bow legs
Delayed closure of fontanelle
Café-au-lait spots
Rachitic rosary
Explanation - Café-au-lait spots are seen in neurofibromatosis, not rickets. Rickets presents with bow legs, rachitic rosary, and delayed closure of fontanelle.
Correct answer is: Café-au-lait spots
Q.8 Which electrolyte abnormality is most likely in congenital adrenal hyperplasia with salt-wasting?
Hyponatremia
Hypernatremia
Hypercalcemia
Hypokalemia
Explanation - In salt-wasting CAH, aldosterone deficiency leads to sodium loss, hyponatremia, hyperkalemia, and dehydration.
Correct answer is: Hyponatremia
Q.9 A 6-year-old girl presents with premature breast development but no pubic hair. What is the most likely diagnosis?
Central precocious puberty
Peripheral precocious puberty
Premature thelarche
Adrenal tumor
Explanation - Premature thelarche involves isolated breast development without other secondary sexual characteristics.
Correct answer is: Premature thelarche
Q.10 Which investigation is most useful to differentiate central from peripheral precocious puberty?
Serum estradiol
Bone age X-ray
GnRH stimulation test
Pelvic ultrasound
Explanation - The GnRH stimulation test helps differentiate central (gonadotropin-dependent) from peripheral (gonadotropin-independent) precocious puberty.
Correct answer is: GnRH stimulation test
Q.11 The most common cause of childhood goiter is:
Iodine deficiency
Hashimoto’s thyroiditis
Graves’ disease
Thyroid carcinoma
Explanation - Hashimoto’s thyroiditis is the leading cause of acquired hypothyroidism and goiter in children in iodine-sufficient regions.
Correct answer is: Hashimoto’s thyroiditis
Q.12 What is the first-line treatment for Type 1 diabetes mellitus in children?
Oral hypoglycemic drugs
Insulin therapy
Diet control only
Metformin
Explanation - Type 1 diabetes requires insulin therapy as oral drugs are ineffective due to beta-cell destruction.
Correct answer is: Insulin therapy
Q.13 In an infant with hypoglycemia and hepatomegaly, which enzyme deficiency should be suspected?
Glucose-6-phosphatase
Hexokinase
Glucokinase
Aldolase
Explanation - Glucose-6-phosphatase deficiency causes Von Gierke’s disease (GSD I), presenting with hypoglycemia and hepatomegaly.
Correct answer is: Glucose-6-phosphatase
Q.14 Which of the following is a feature of hypocalcemia in children?
Tetany
Obesity
Hirsutism
Constipation
Explanation - Hypocalcemia in children often presents with neuromuscular irritability, including tetany and seizures.
Correct answer is: Tetany
Q.15 In neonatal hypoglycemia, which hormone deficiency is commonly implicated?
Insulin
Cortisol
Glucagon
Growth hormone
Explanation - Both growth hormone and cortisol deficiencies can cause neonatal hypoglycemia, but GH deficiency is more common.
Correct answer is: Growth hormone
Q.16 A tall child with delayed puberty, small testes, and gynecomastia most likely has:
Turner syndrome
Klinefelter syndrome
Marfan syndrome
Prader-Willi syndrome
Explanation - Klinefelter syndrome (47,XXY) is characterized by tall stature, hypogonadism, small testes, and gynecomastia.
Correct answer is: Klinefelter syndrome
Q.17 Which syndrome is associated with short stature, webbed neck, and streak ovaries?
Klinefelter syndrome
Turner syndrome
Down syndrome
Prader-Willi syndrome
Explanation - Turner syndrome (45,XO) presents with short stature, webbed neck, and ovarian dysgenesis (streak ovaries).
Correct answer is: Turner syndrome
Q.18 What is the most common cause of Cushing’s syndrome in children?
Adrenal adenoma
Exogenous steroid use
Pituitary adenoma
Adrenal carcinoma
Explanation - In children, the most common cause of Cushing’s syndrome is prolonged corticosteroid therapy.
Correct answer is: Exogenous steroid use
Q.19 In children with Type 1 diabetes, what is the recommended HbA1c target?
<5%
<6.5%
<7.5%
<9%
Explanation - For children with type 1 diabetes, the ADA recommends maintaining HbA1c <7.5% to balance good control with reduced hypoglycemia risk.
Correct answer is: <7.5%
Q.20 Which hormone is primarily responsible for linear growth during childhood?
Thyroxine
Insulin
Growth hormone
Cortisol
Explanation - Growth hormone plays a central role in childhood growth by stimulating IGF-1 production.
Correct answer is: Growth hormone
Q.21 Which lab finding is consistent with diabetic ketoacidosis (DKA) in a child?
Respiratory alkalosis
Metabolic acidosis with ketonuria
Hypernatremia with alkalosis
Hypoglycemia with acidosis
Explanation - DKA presents with metabolic acidosis, ketonuria, and hyperglycemia due to insulin deficiency.
Correct answer is: Metabolic acidosis with ketonuria
Q.22 Which condition is associated with neonatal hypocalcemia?
DiGeorge syndrome
Down syndrome
Klinefelter syndrome
Turner syndrome
Explanation - DiGeorge syndrome (22q11 deletion) leads to hypoparathyroidism, resulting in neonatal hypocalcemia.
Correct answer is: DiGeorge syndrome
Q.23 Which hormone is elevated in McCune-Albright syndrome?
TSH
FSH
LH
Estrogen
Explanation - McCune-Albright syndrome is caused by GNAS mutation leading to autonomous hormone secretion, often estrogen excess causing precocious puberty.
Correct answer is: Estrogen
Q.24 Which is the most common cause of secondary hypertension in children?
Renal parenchymal disease
Cushing’s syndrome
Pheochromocytoma
Coarctation of aorta
Explanation - Renal parenchymal disease is the leading cause of secondary hypertension in children.
Correct answer is: Renal parenchymal disease
Q.25 Which syndrome is associated with obesity, hypogonadism, and intellectual disability?
Turner syndrome
Prader-Willi syndrome
Klinefelter syndrome
Down syndrome
Explanation - Prader-Willi syndrome is characterized by hypotonia in infancy, later obesity, hypogonadism, and intellectual disability.
Correct answer is: Prader-Willi syndrome