Adolescent Medicine — MCQs
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A 16-year-old girl is in your office for a preparticipation sports examination. She plans to play soccer in the fall, and needs her form filled out. Which of the following history or physical examination findings is usually considered a contraindication to playing contact sports?
A child with Down syndrome is typically mentally retarded. Which of the following cytogenetic abnormalities is NOT a cause of Down syndrome?
Which of the following conditions is NOT associated with joint hyperextensibility?
All of the following are associated with Down syndrome except?
Which one of the following statements is NOT true regarding Noonan's syndrome?
Unconjugated hyperbilirubinemia in neonates is seen in all of the following conditions except?
Aspirin use is associated with which of the following conditions?
Convulsions in a child with dehydration and vomiting can only be due to:
A child presents with tall stature, long, spider-like fingers, chest deformity, and vision problems. Which of the following is the most likely diagnosis given these findings?
During a routine well-child examination, a 12-year-old girl reports occasional headaches, a
Adolescent Medicine Indian Medical PG Practice Questions and MCQs
Question 1: A 16-year-old girl is in your office for a preparticipation sports examination. She plans to play soccer in the fall, and needs her form filled out. Which of the following history or physical examination findings is usually considered a contraindication to playing contact sports?
- A. Congenital heart disease, repaired
- B. Obesity
- C. Absence of a single ovary
- D. Absence of a single eye (Correct Answer)
Explanation: **Explanation:** The primary goal of a preparticipation physical evaluation (PPE) is to identify conditions that predispose an athlete to injury or sudden death. In the context of contact or collision sports (like soccer), the **absence of a single paired organ** is a critical consideration. **Why Option D is Correct:** The **absence of a single eye** (or a functional loss of vision in one eye) is considered a contraindication to contact sports because the risk of injury to the remaining eye is high. If the "good" eye is injured, the patient faces permanent, total blindness. While some guidelines allow participation if the athlete wears high-quality protective eyewear (polycarbonate lenses), traditional teaching for exams like NEET-PG classifies a single eye as a contraindication for high-impact contact sports. **Analysis of Incorrect Options:** * **A. Congenital heart disease (repaired):** Most children with successfully repaired CHD (e.g., ASD or VSD) without residual pulmonary hypertension or arrhythmias can participate in sports. * **B. Obesity:** Obesity is not a contraindication; in fact, sports participation is actively encouraged as part of weight management, provided there are no underlying cardiovascular risks. * **C. Absence of a single ovary:** Unlike the eyes or kidneys, the loss of a single ovary does not pose a significant risk to life or essential function, as the remaining ovary is well-protected within the pelvic cavity and maintains hormonal/reproductive function. **High-Yield Clinical Pearls for NEET-PG:** * **Single Kidney:** Previously a contraindication, but current AAP guidelines allow participation in contact sports if the athlete is informed of the risks and uses protective padding. * **Atlantoaxial Instability:** A classic contraindication for contact sports in patients with **Down Syndrome**. * **Hypertrophic Cardiomyopathy (HCM):** The most common cause of sudden cardiac death in young athletes; it is an absolute contraindication to competitive sports. * **Acute Splenomegaly (e.g., Infectious Mononucleosis):** Contraindication due to the risk of splenic rupture; athletes must wait at least 3–4 weeks before returning to play.
Question 2: A child with Down syndrome is typically mentally retarded. Which of the following cytogenetic abnormalities is NOT a cause of Down syndrome?
- A. Deleted chromosome 21 (Correct Answer)
- B. Trisomy 21
- C. Robertsonian translocation
- D. Mosaicism
Explanation: **Explanation:** Down syndrome (Trisomy 21) is caused by an **excess of genetic material** from chromosome 21. Therefore, a **deleted chromosome 21 (Option A)** would result in monosomy or partial monosomy, which does not cause Down syndrome; in fact, complete autosomal monosomies are generally incompatible with life. **Analysis of Options:** * **Trisomy 21 (Nondisjunction):** The most common cause (approx. 95%). It usually occurs due to meiotic error, most frequently during maternal Meiosis I. Risk increases significantly with advanced maternal age. * **Robertsonian Translocation:** Occurs in about 3–4% of cases. The extra long arm of chromosome 21 is attached to another acrocentric chromosome (usually 14 or 22). This is the only form that can be inherited from a carrier parent, necessitating parental karyotyping. * **Mosaicism:** Occurs in 1–2% of cases. It results from mitotic nondisjunction after fertilization, leading to two cell lines (one normal, one trisomic). These patients often have a milder phenotype. **NEET-PG High-Yield Pearls:** * **Most common cause:** Meiotic nondisjunction (95%). * **Recurrence risk:** ~1% for Trisomy 21; however, if a parent is a **14;21 translocation carrier**, the risk is ~10-15% (maternal) or ~2-3% (paternal). If a parent has a **21;21 translocation**, the recurrence risk is **100%**. * **Screening:** First-trimester screening includes Dual Marker (PAPP-A and β-hCG) and Ultrasound (Nuchal Translucency). * **Quadruple Test:** Low AFP, Low Estriol, **High hCG, High Inhibin A** (Mnemonic: **HI**gh for **H**CG and **I**nhibin).
Question 3: Which of the following conditions is NOT associated with joint hyperextensibility?
- A. Stickler Syndrome
- B. Hyperlysinemia
- C. Fragile X syndrome
- D. Hurler's syndrome (Correct Answer)
Explanation: **Explanation:** The correct answer is **Hurler’s Syndrome (Mucopolysaccharidosis Type I)**. Unlike many connective tissue disorders that present with joint laxity, Hurler’s syndrome is characterized by **joint contractures and stiffness**. This occurs due to the progressive accumulation of glycosaminoglycans (GAGs) in the periarticular soft tissues, tendons, and ligaments, leading to restricted mobility and the classic "claw hand" deformity. **Analysis of Options:** * **Stickler Syndrome:** A connective tissue disorder caused by collagen mutations (Type II and XI). It presents with a triad of high myopia (leading to retinal detachment), hearing loss, and **joint hypermobility** (which often progresses to early-onset osteoarthritis). * **Hyperlysinemia:** An autosomal recessive metabolic disorder. Elevated lysine levels interfere with the cross-linking of collagen fibers, resulting in muscle hypotonia and **joint laxity**. * **Fragile X Syndrome:** The most common cause of inherited intellectual disability. Clinical features include a long face, large ears, macroorchidism, and significant **joint hyperextensibility** due to underlying connective tissue dysplasia. **High-Yield Clinical Pearls for NEET-PG:** * **The "Rule of Thumb":** Most Mucopolysaccharidoses (MPS) present with stiff joints, **EXCEPT for Morquio Syndrome (MPS IV)**, which is uniquely associated with significant joint laxity and ligamentous hypermobility. * **Differential for Joint Hypermobility:** Always consider Ehlers-Danlos Syndrome, Marfan Syndrome, Osteogenesis Imperfecta, and Homocystinuria. * **Hurler vs. Hunter:** Hurler (MPS I) has corneal clouding; Hunter (MPS II) does not ("The Hunter needs clear eyes to see the target"). Both typically feature joint stiffness.
Question 4: All of the following are associated with Down syndrome except?
- A. Sensory hearing loss (Correct Answer)
- B. VSD
- C. Hypothyroidism
- D. Duodenal atresia
Explanation: **Explanation:** The correct answer is **A (Sensory hearing loss)**. In Down syndrome (Trisomy 21), hearing impairment is extremely common (up to 75% of cases), but it is primarily **Conductive hearing loss**. This is due to craniofacial abnormalities leading to narrow external auditory canals and a high incidence of chronic otitis media with effusion (serous otitis media). While sensorineural hearing loss can occur, conductive loss is the hallmark association. **Analysis of other options:** * **B. VSD (Ventricular Septal Defect):** Congenital heart disease (CHD) occurs in 40-50% of Down syndrome patients. While **Endocardial Cushion Defect (AVSD)** is the most characteristic, VSD is the second most common cardiac anomaly in these children. * **C. Hypothyroidism:** Endocrine disorders are frequent in Down syndrome. Both congenital and acquired (autoimmune) hypothyroidism occur at a much higher rate than in the general population, necessitating regular thyroid function screening. * **D. Duodenal Atresia:** Down syndrome is the most common chromosomal association with duodenal atresia (the "double bubble" sign). Approximately 30% of infants with duodenal atresia have Trisomy 21. **High-Yield Clinical Pearls for NEET-PG:** * **Most common CHD:** Atrioventricular Septal Defect (AVSD). * **Most common GI anomaly:** Duodenal atresia (though Hirschsprung disease is also associated). * **Hematological association:** Increased risk of **AMKL** (Acute Megakaryoblastic Leukemia) before age 3 and **ALL** (Acute Lymphoblastic Leukemia) after age 3. * **Neurological:** Early-onset Alzheimer’s disease (due to APP gene on Chromosome 21) and Atlanto-axial instability. * **Screening:** Annual thyroid function tests and hearing evaluations are mandatory.
Question 5: Which one of the following statements is NOT true regarding Noonan's syndrome?
- A. Affects males and females
- B. Short stature
- C. Chromosomal abnormality (Correct Answer)
- D. Congenital heart disease - ASD
Explanation: **Explanation:** Noonan’s syndrome is often referred to as the **"Male Turner Syndrome"** due to its phenotypic similarities with Turner syndrome. However, the fundamental difference lies in its genetic basis. **1. Why "Chromosomal abnormality" is NOT true:** Noonan’s syndrome is a **single-gene (monogenic) disorder**, not a chromosomal one. It is an **Autosomal Dominant** condition caused by mutations in genes belonging to the RAS-MAPK pathway (most commonly the **PTPN11 gene** on chromosome 12). Unlike Turner syndrome (45,XO), patients with Noonan’s syndrome typically have a **normal karyotype** (46,XY or 46,XX). **2. Analysis of other options:** * **Affects males and females:** Since it is autosomal dominant and not linked to sex chromosomes, it affects both genders equally. * **Short stature:** This is a hallmark clinical feature, often accompanied by a webbed neck and chest deformities (pectus excavatum/carinatum). * **Congenital heart disease:** Cardiac anomalies are present in about 80% of cases. While **Pulmonary Stenosis** is the most common lesion, **Atrial Septal Defect (ASD)** and Hypertrophic Cardiomyopathy are also frequently associated. **High-Yield Clinical Pearls for NEET-PG:** * **Most common gene mutation:** *PTPN11* (50% of cases). * **Cardiac triad:** Pulmonary valve stenosis, ASD, and Hypertrophic Cardiomyopathy (HCM). * **Facial features:** Low-set ears, hypertelorism (wide-spaced eyes), and downward-slanting palpebral fissures. * **Differentiating factor:** Unlike Turner syndrome, Noonan’s syndrome patients often have **normal fertility** (though males may have cryptorchidism).
Question 6: Unconjugated hyperbilirubinemia in neonates is seen in all of the following conditions except?
- A. Physiological jaundice
- B. Dubin-Johnson syndrome (Correct Answer)
- C. Hypothyroidism
- D. Hemolytic anemia
Explanation: **Explanation:** The core of this question lies in distinguishing between **unconjugated (indirect)** and **conjugated (direct)** hyperbilirubinemia. **1. Why Dubin-Johnson Syndrome is the Correct Answer:** Dubin-Johnson syndrome is an autosomal recessive disorder caused by a mutation in the **MRP2 gene**, which leads to a defect in the transport of conjugated bilirubin from hepatocytes into the bile canaliculi. Therefore, it results in **conjugated hyperbilirubinemia**. A classic diagnostic feature is a "black liver" due to the accumulation of epinephrine metabolites. **2. Analysis of Incorrect Options (Causes of Unconjugated Hyperbilirubinemia):** * **Physiological Jaundice:** Occurs due to immature glucuronyl transferase activity and increased RBC turnover, leading to a rise in unconjugated bilirubin. * **Hypothyroidism:** Thyroid hormones are essential for the induction of the enzyme **UDP-glucuronosyltransferase (UGT)**. Deficiency slows down the conjugation process, causing prolonged unconjugated jaundice. * **Hemolytic Anemia:** Conditions like Rh incompatibility or G6PD deficiency cause excessive breakdown of RBCs, overwhelming the liver's conjugation capacity with heme-derived indirect bilirubin. **NEET-PG High-Yield Pearls:** * **Crigler-Najjar & Gilbert Syndromes:** These are the primary genetic causes of **unconjugated** hyperbilirubinemia (defect in UGT1A1 enzyme). * **Dubin-Johnson vs. Rotor Syndrome:** Both cause conjugated hyperbilirubinemia. Dubin-Johnson features a black liver and abnormal coproporphyrin I levels; Rotor syndrome does not have liver pigmentation. * **Rule of Thumb:** If the pathology is *before* or *at* the level of conjugation (hemolysis, uptake, or enzyme defect), it is unconjugated. If the pathology is *after* conjugation (excretion or obstruction), it is conjugated.
Question 7: Aspirin use is associated with which of the following conditions?
- A. Reye's Syndrome (Correct Answer)
- B. Sjogren Syndrome
- C. Reiter Syndrome
- D. None of the above
Explanation: **Explanation:** **Reye’s Syndrome** is a rare but life-threatening condition characterized by **acute encephalopathy** and **fatty degeneration of the liver**. The correct answer is **A** because there is a strong epidemiological association between the administration of **aspirin (salicylates)** during a viral prodrome (most commonly **Influenza B** or **Varicella**) and the development of this syndrome. The underlying pathophysiology involves **mitochondrial dysfunction**, leading to impaired fatty acid oxidation, hyperammonemia, and cerebral edema. **Analysis of Incorrect Options:** * **B. Sjogren Syndrome:** This is a chronic autoimmune disorder characterized by lymphocytic infiltration of exocrine glands, leading to dry eyes (keratoconjunctivitis sicca) and dry mouth (xerostomia). It is not triggered by aspirin. * **C. Reiter Syndrome (Reactive Arthritis):** This is a triad of arthritis, urethritis, and conjunctivitis ("can't see, can't pee, can't climb a tree") that typically follows a gastrointestinal or genitourinary infection (e.g., *Chlamydia* or *Salmonella*). Aspirin is not an etiological factor. **High-Yield Clinical Pearls for NEET-PG:** * **Biopsy Finding:** The liver biopsy in Reye’s Syndrome shows **microvesicular steatosis** (small fat droplets) without significant inflammation or necrosis. * **Laboratory Markers:** Look for elevated serum ammonia, prolonged Prothrombin Time (PT), and elevated AST/ALT, while bilirubin levels usually remain normal. * **Exception:** Aspirin is generally contraindicated in children, **except** in specific conditions like **Kawasaki Disease** and **Juvenile Idiopathic Arthritis (JIA)**, where its benefits outweigh the risks under strict supervision. * **Management:** Primarily supportive, focusing on managing cerebral edema (e.g., mannitol, hypertonic saline) and correcting hypoglycemia.
Question 8: Convulsions in a child with dehydration and vomiting can only be due to:
- A. Decreased serum sodium (Correct Answer)
- B. Decreased serum magnesium
- C. Decreased serum potassium
- D. Decreased serum calcium
Explanation: In a child presenting with dehydration and vomiting, the most likely electrolyte imbalance leading to convulsions is **Hyponatremia (Decreased serum sodium).** ### **Why the Correct Answer is Right** Vomiting leads to the loss of both water and electrolytes. If the child is rehydrated with plain water or low-solute fluids (hypotonic rehydration), the extracellular fluid becomes dilute. This creates an osmotic gradient that shifts water into the brain cells, leading to **cerebral edema**. This increased intracranial pressure and neuronal irritability manifest clinically as seizures. Additionally, severe hyponatremia (<120 mEq/L) directly lowers the seizure threshold. ### **Why the Other Options are Incorrect** * **Decreased serum magnesium (Hypomagnesemia):** While it can cause seizures (often associated with hypocalcemia), it is rarely a direct consequence of simple dehydration and vomiting. It is more common in malabsorption syndromes or specific renal losses. * **Decreased serum potassium (Hypokalemia):** Vomiting typically causes hypokalemia, but this manifests as **muscle weakness, paralytic ileus, and ECG changes** (U waves, flattened T waves). It does not typically cause convulsions. * **Decreased serum calcium (Hypocalcemia):** While it causes tetany and seizures, it is not a standard feature of acute dehydration. It is more common in Vitamin D deficiency or hypoparathyroidism. ### **NEET-PG High-Yield Pearls** * **Hypernatremic Dehydration:** Seizures can also occur during the *correction* of hypernatremia if the sodium level is lowered too rapidly (>0.5 mEq/L per hour), leading to cerebral edema. * **Management:** For symptomatic hyponatremic seizures, the treatment of choice is **3% Hypertonic Saline**. * **Vomiting & Acid-Base:** The classic metabolic derangement in vomiting is **Metabolic Alkalosis with Paradoxical Aciduria.**
Question 9: A child presents with tall stature, long, spider-like fingers, chest deformity, and vision problems. Which of the following is the most likely diagnosis given these findings?
- A. Marfan syndrome (Correct Answer)
- B. Lowe syndrome
- C. Homocystinuria
- D. GM1 gangliosidosis
Explanation: ### Explanation **Correct Answer: A. Marfan syndrome** **Why it is correct:** Marfan syndrome is an autosomal dominant connective tissue disorder caused by a mutation in the **FBN1 gene** on chromosome 15, leading to defective **fibrillin-1**. The clinical presentation described is a classic triad of skeletal, ocular, and cardiovascular involvement: * **Skeletal:** Tall stature, arachnodactyly (spider-like fingers), and chest deformities (pectus excavatum or carinatum). * **Ocular:** Ectopia lentis (dislocation of the lens), typically **upward and outward (superotemporal)**. * **Cardiovascular (High-yield):** Mitral valve prolapse and aortic root dilation/dissection are the most life-threatening complications. **Why the other options are incorrect:** * **B. Lowe Syndrome (Oculocerebrorenal syndrome):** An X-linked recessive disorder characterized by congenital cataracts, intellectual disability, and renal tubular acidosis (Fanconi syndrome). It does not present with tall stature or arachnodactyly. * **C. Homocystinuria:** This is the most important differential for Marfan syndrome. While it also features tall stature and arachnodactyly, the lens dislocation is typically **downward and inward (inferonasal)**. Additionally, patients often have intellectual disability and a high risk of **thromboembolism**, which are not features of Marfan syndrome. * **D. GM1 Gangliosidosis:** A lysosomal storage disorder presenting with hepatosplenomegaly, skeletal abnormalities (dysostosis multiplex), and a cherry-red spot on the macula, but not the Marfanoid habitus. **NEET-PG High-Yield Pearls:** * **Steinberg Sign (Thumb sign)** and **Walker-Murdoch Sign (Wrist sign)** are clinical tests used to identify arachnodactyly. * **Most common cause of death:** Aortic dissection/rupture. * **Diagnostic Criteria:** The **Ghent Nosology** is used for diagnosis. * **Differentiation Tip:** Marfan = Normal IQ + Upward Lens; Homocystinuria = Low IQ + Downward Lens + Thrombosis.
Question 10: During a routine well-child examination, a 12-year-old girl reports occasional headaches, a
- A. Breath into a paper sack should the symptoms return
- B. Measurement of serum b-hCG levels
- C. Determination of HbA1c levels
- D. Measurement of urine vanillylmandelic acid (VMA) and homovanillic acid (HVA) and serum metanephrine levels (Correct Answer)
Explanation: **Explanation:** The clinical presentation of episodic headaches, palpitations, and diaphoresis (the classic triad) in an adolescent strongly suggests **Pheochromocytoma**. While rare in children, approximately 10% of cases occur in the pediatric age group, often associated with hereditary syndromes like MEN 2, VHL, or NF-1. **1. Why Option D is Correct:** The diagnosis of pheochromocytoma relies on demonstrating catecholamine excess. **Fractionated plasma metanephrines** (high sensitivity) or **24-hour urinary metanephrines and catecholamines (VMA/HVA)** are the initial screening tests of choice. VMA and HVA are end-metabolites of epinephrine and norepinephrine/dopamine, respectively. Elevated levels confirm the biochemical presence of a catecholamine-secreting tumor before proceeding to localization via imaging (CT/MRI). **2. Why Other Options are Incorrect:** * **Option A:** Breathing into a paper bag is a treatment for hyperventilation syndrome (respiratory alkalosis). While anxiety can cause palpitations, it would not explain the physiological hypertension often associated with these symptoms. * **Option B:** Serum b-hCG is used to rule out pregnancy. While pregnancy can cause various symptoms, it does not typically present with the paroxysmal adrenergic triad. * **Option C:** HbA1c screens for Diabetes Mellitus. Although pheochromocytoma can cause secondary hyperglycemia (due to catecholamine-induced glycogenolysis), HbA1c is not a diagnostic tool for the underlying cause of these paroxysmal symptoms. **Clinical Pearls for NEET-PG:** * **Rule of 10s for Pheochromocytoma:** 10% bilateral, 10% extra-adrenal (paragangliomas), 10% malignant, 10% pediatric, and 10% familial. * **Most common site:** Adrenal medulla; most common extra-adrenal site: **Organ of Zuckerkandl** (near the aortic bifurcation). * **Pre-operative management:** Always start **Alpha-blockers (Phenoxybenzamine)** before Beta-blockers to avoid an unopposed alpha-adrenergic hypertensive crisis.
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Adolescent Growth and Development
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Puberty and Its Disorders
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Adolescent Sexuality
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Sexually Transmitted Infections
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Adolescent Pregnancy
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Menstrual Disorders
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Substance Use Disorders
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Mental Health Issues in Adolescents
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Eating Disorders
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Sports Medicine for Adolescents
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Transition to Adult Care
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