A 5-year-old boy presented with chronic diarrhea. On examination he had hepatosplenomegaly, coarse facial features, joint stiffness, clear cornea, and short stature. Of the following, the MOST likely diagnosis is
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Question 2 of 62
A 6-year-old boy develops precocious puberty; he has acne, pubic and axillary hair, and penile enlargement with normal testicular size. His blood pressure is elevated. Lab test reveals hypokalemia, and elevated level of deoxycorticosterone. MRI of the brain is normal. Of the following, the MOST likely enzyme deficiency for this boy is
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Question 3 of 62
A first cousin parents brought their 3-week-old neonate with fever, vomiting, and diarrhea, on examination he is tachypnic and lethargic, lab. Investigations revealed ketoacidosis, hyperglycinemia, neutropenia, thrombocytopenia, hyperammonemia and hypoglycemia. Of the following, the MOST likely diagnosis is
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Question 4 of 62
The earliest radiographic sign in Hurler syndrome is
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Question 5 of 62
Matching: Match the disease with its enzyme - β-Glucosidase
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Question 6 of 62
The MOST appropriate method to confirm the diagnosis of tyrosinemia type 1 is by elevated level of
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Question 7 of 62
A 14-year-old presents with poor growth and delayed puberty. She denies headaches or poor school performance. She is physically sluggish and has a small goiter, and her serum cholesterol is 500 mg/dL. The most likely diagnosis is
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Question 8 of 62
Of the following physical findings found in some patients with hyperlipidemia, which one is most likely to be found in a 17-year-old boy with heterozygous familial hypercholesterolemia?
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Question 9 of 62
Matching: Lipidosis - Sandhoff
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Question 10 of 62
The most useful therapeutic approach to the patient in the previous two questions is
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Question 11 of 62
Typical insulin dosage requirement in prepubertal children after the 'honeymoon' period is
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Question 12 of 62
Matching: Glycogen storage diseases - Anderson
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Question 13 of 62
The next best step in the evaluation of the child in the previous question is to obtain a
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Question 14 of 62
The major cause of the acute scrotum in boys less than 6 years of age is
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Question 15 of 62
Acquired hypothyroidism is associated with all of the following EXCEPT
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Question 16 of 62
To evaluate the patient in the previous question, all of the following are appropriate EXCEPT
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Question 17 of 62
The hypothalamus secretes releasing or inhibiting factors to control the anterior pituitary gland. Of the following, the pituitary hormone that is elevated in a hypothalamic disease is
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Question 18 of 62
All the following conditions are associated with Graves' disease EXCEPT
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Question 19 of 62
The percentage of individuals with congenital heart defects is highest in
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Question 20 of 62
All prepubertal gynecomastia cases, as well as pubertal cases with suspicious features, should be investigated. Of the following, the initial laboratory evaluation should include
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Question 21 of 62
A 5-year-old mentally retarded girl presented with repeated convulsions and abnormal EEG finding. On examination, she had a light skin, small head, and exaggerated reflexes. Of the following, the MOST appropriate method to confirm the diagnosis is
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Question 22 of 62
The diagnostic assay of Zellweger syndrome is by elevated level of
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Question 23 of 62
Hypoglycemia may result from absence or deficiency of the counter-regulatory hormones (growth hormone and cortisol). It is sometimes difficult to differentiate it from hyperinsulinism. Which of the following suggests hypoglycemia due to absence of counter-regulatory hormones rather than hyperinsulinism?
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Question 24 of 62
Laboratory findings in hypoparathyroidism include the following EXCEPT
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Question 25 of 62
All the following are recognized laboratory findings of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency EXCEPT
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Question 26 of 62
Matching: 3-Methylglutaconic aciduria type II
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Question 27 of 62
Neonates and young infants with central diabetes insipidus are often best treated with
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Question 28 of 62
Glucocorticoids play a major role in immune regulation. They increase circulating
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Question 29 of 62
Risk for subclinical hypothyroidism is seen in children with
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Question 30 of 62
The lipid storage diseases are a group of disorders that result from specific enzymatic deficiencies. Each statement about these disorders is true EXCEPT
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Question 31 of 62
Approximately 10% of infants with congenital hypothyroidism have associated congenital anomalies. Of the following, the MOST common are
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Question 32 of 62
The MOST important screening test of acute intermittent porphyria is
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Question 33 of 62
The MOST appropriate treatment of homocystinuria is
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Question 34 of 62
Treatment of the patient in the previous two questions is best achieved with
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Question 35 of 62
A 2-year-old boy presented with growth retardation, hepatomegaly, and recurrent attacks of hypoglycemia; biochemical study reveals elevated blood lactate, triglyceride, and uric acid levels. All the following are complications of this disease EXCEPT
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Question 36 of 62
A 5-year-old child with recurrent attacks of ketotic hypoglycemia. Of the following, the BEST advice to the parents during any intercurrent illness is to
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Question 37 of 62
A 7-year-old male previously 'A' student demonstrates progressive hyperactivity is diagnosed with attention deficit hyperactivity disorder. Despite therapy, his school performance deteriorates. He has difficulty understanding people when spoken to on the telephone. Seizures developed 6 months later. Physical examination reveals slight diffuse hyperpigmentation, spasticity, and reduced deep tendon reflexes. The most likely diagnosis is
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Question 38 of 62
HbAâ‚ÂC values may be spuriously elevated in
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Question 39 of 62
A 9-year-old girl develops polyuria, vomiting, abdominal pain, and deep acidotic breathing during an intercurrent illness. She has been diagnosed with type 1 diabetes mellitus 5 years ago. Lab investigations reveal: blood glucose, 600 mg/dL; blood pH, 7.28; serum bicarbonate concentration, 14 mEq/L; and ketones in urine are positive. Of the following, the MOST serious complication that may occur in this girl is
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Question 40 of 62
The underlying disorder affecting the child in the previous question is most likely
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Question 41 of 62
Mucopolysaccharidoses (MPS) affect many solid organs, the brain is spared in
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Question 42 of 62
Congenital hypogonadotropic hypogonadism include
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Question 43 of 62
Matching: Mutation in KIT gene
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Question 44 of 62
Matching: Peroxisomal disorder
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Question 45 of 62
Diabetic ketoacidosis (DKA) is the end result of the metabolic abnormalities resulting from a severe deficiency of insulin or insulin effectiveness. DKA is characterized by the following EXCEPT
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Question 46 of 62
Serum amino acids are normal and the urine orotic acid is elevated in the patient in the previous question. The most likely diagnosis is
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Question 47 of 62
Inborn errors of metabolism (IEM) are hereditary biochemical disorders caused by single-gene mutations that encode specific proteins. The following are the common characteristics of IEM EXCEPT
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Question 48 of 62
An 8-month-old previously well infant is brought to the emergency room with vomiting, lethargy, dehydration, and failure to thrive. Intravenous administration of fluids is begun. Serum electrolyte values are sodium 124 mEq/L, chloride 88 mEq/L, and potassium 6.8 mEq/L. Serum glucose level is 35 mg/dL. The child is hypotensive and has areas of hyperpigmentation. The most likely diagnosis is
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Question 49 of 62
Corticotropin-releasing hormone (CRH) and ACTH release are inhibited by
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Question 50 of 62
Acute intermittent porphyria (AIP) could be exacerbated by all the following EXCEPT
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Question 51 of 62
A 2-year-old boy presented with failure to thrive, regression of developmental milestone, and difficult to contact with surroundings. On examination, there are hepatosplenomegaly and moderate lymphadenopathy. Of the following, the MOST likely diagnosis is
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Question 52 of 62
Suggestive laboratory features of classic growth hormone deficiency include all of the following EXCEPT
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Question 53 of 62
Clinical laboratory testing can define the metabolic derangement. Vacuolated lymphocytes and metachromatic granules are seen in
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Question 54 of 62
In older children with Cushing syndrome, in addition to obesity, a common early manifestation is
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Question 55 of 62
Premature adrenarche has traditionally applied to the appearance of sexual hair before the age of 8 yr in girls or 9 yr in boys without other evidence of maturation. It is characterized by the following EXCEPT
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Question 56 of 62
Children with type 2 DM often seek medical care because of
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Question 57 of 62
Phenylketonuria (PKU) is characterized by all the following EXCEPT
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Question 58 of 62
Patients with autoimmune Addison disease must be closely observed for the development of other autoimmune disorders. Of the following, the MOST commonly associated disorder in children is
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Question 59 of 62
The MOST commonly used and the only FDA-approved oral agent for the treatment of T2 DM in children and adolescents is
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Question 60 of 62
A 5-day-old male neonate develops poor feeding, irritability and tachycardia; her mother has been developed hyperthyroidism before pregnancy that was treated by radioiodine. The pregnancy course was unremarkable. Lab investigations reveal markedly elevation of T4 and T3. Of the following, the MOST likely diagnosis is
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Question 61 of 62
A 16-year-old boy has delayed puberty; he doesn't develop secondary sexual characteristics; he has a normal stature according to his chronological age. Examination reveals an upper-to-lower segment ratio of 0.8 (normal ratio is more than 0.9). Of the following, the MOST important test to confirm diagnosis is
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Question 62 of 62
A 28-day-old boy presented with prolonged neonatal jaundice, lethargy, poor feeding, and failure to regain birth weight. On examination there are hepatomegaly and cataract. Of the following, the MOST likely injured organs in this disease are
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