Important MCQ's in Pediatric Endocrinology & Rheumatology

Q1. An 8-day-old neonate baby girl is brought by her father to the neonatology department with a 3-day history of vomiting and poor feeding. The baby has an excessive cry and signs of severe dehydration including depressed anterior fontanelles and sunken eyes. Additionally, she has ambiguous genitalia. Her laboratory investigations show low blood sugar levels, serum sodium of 100 mmol/L and serum potassium of 7.1 mmol/L. ACTH stimulation test is done which reveals a high ACTH level and low cortisol. She is commenced on intravenous fluids and hydrocortisone. What is the most likely diagnosis? 

1. Cushing's syndrome

2. Addison's disease

3. Congenital Adrenal Hyperplasia

4. Congenital androgen insensitivity syndrome 

Ans. 3) Congenital Adrenal Hyperplasia 

Also read: Congenital and Acquired Hypothyroidism in Children

Q2. A 30-year-old pregnant woman presents to the gynaecology clinic for her first prenatal visit. During the visit, the doctor asks about her family history and personal medical history to assess the risk factors for congenital adrenal hyperplasia (CAH) in her offspring. Which of the following scenarios raises the highest concern for CAH risk in her child? 

1. A history of polycystic ovary syndrome (PCOS)

2. Both the patient and her husband have a family history of autoimmune disorders.

3. The patient's sister and husband's brother both have a confirmed diagnosis of CAH.

4. The patient has a history of recurrent miscarriages.  

Ans. 3) The patient's sister and husband's brother both have a confirmed diagnosis of CAH 

Q3. A 15-year-old girl is brought by her mother with complaints of hoarseness of voice, excessive hair growth, and irregular menstruation for the last 3 months. Her examination reveals hirsutism. No developmental delay is noted and her IQ level is also normal. Her abdominal ultrasound is unremarkable. Her laboratory investigations show mildly increased levels of androgens in her body. Further investigations reveal near-normal levels of cortisol and aldosterone. What is the most likely diagnosis?

1. Classical Congenital adrenal hyperplasia (CAH)

2. Non-Classical CAH

3. Polycystic Ovarian Syndrome (PCOS)

4. 17-alpha-hydroxylase deficiency

Ans. 2) Non-Classical CAH 

Q4. A 6-year-old child is brought by his parents to the paediatric endocrinology outpatient department complaining of ambiguous genitalia and accelerated growth for the last 4 months. Further testing reveals a significantly elevated 17-hydroxyprogesterone level and advanced bone age. The pediatric endocrinologist suspects and plans to classify its severity based on clinical and laboratory findings. Which of the following grading criteria is appropriate for this case?

1. Grading based on the Prader scale and 21-hydroxylase deficiency levels.

2. Grading is based on the presence of salt-wasting or simple virilizing forms.

3. Grading based on cortisol levels and adrenocorticotropic hormone (ACTH) stimulation test.

4. Grading based on the classification of androgen insensitivity syndrome (AIS) and serum testosterone levels.

Ans. 1) Grading based on the Prader scale and 21-hydroxylase deficiency levels

Also read: Nelson Syndrome – Causes, Symptoms And Treatment

Q5. A 6-year-old girl presents to the endocrinology clinic for a follow-up visit. Her parents express concern about her growth and development. She was diagnosed with complicated congenital adrenal hyperplasia (CAH) at birth and has been managed with hydrocortisone and fludrocortisone since then. The patient's height is at the 10th percentile, and her blood pressure is within normal limits. Laboratory findings reveal elevated 17-hydroxyprogesterone levels. Based on the patient's clinical presentation, which of the following management options should be considered?

1. Increase hydrocortisone dosage and maintain the current fludrocortisone dose.

2. Decrease hydrocortisone dosage and increase fludrocortisone dose.

3. Discontinue hydrocortisone and fludrocortisone therapy.

4. Add spironolactone to the current treatment regimen. 

Ans. 1) Increase hydrocortisone dosage and maintain the current fludrocortisone dose

Q6. In a 5-year-old girl with poor growth, a round face, easy bruising, and slow wound healing, suspected to have Cushing Syndrome, what specific test is commonly conducted to confirm the diagnosis when urinary-free cortisol test results are unclear?

1. CT scan of the head

2. Measurement of serum cortisol level at midnight

3. Measurement of serum ACTH level

4. Petrosal sinus sampling

Ans. 2) Measurement of serum cortisol level at midnight

Q7. A 5-month-old infant is brought by his mother to the pediatric outpatient department with a complaint of significant weight gain from the last three months. He has a history of four previous hospital admissions because of obstructive bronchitis, treated with inhaled Salbutamol and parenteral corticosteroids. Afterwards, at home usually takes oral steroids for a few days after each hospitalization. On examination, the current weight is 8 kg, above the 97th centile, and the length is 58 cm, below the 3rd centile. The blood pressure is 110/70 mm Hg. Hypertrichosis is noted, and he has dilated blood vessels on the cheeks. What is the most probable cause of obesity and short stature in this patient? 

1. Metabolic syndrome

2. Obesity because of overnutrition

3. Cushing syndrome

4. Probably familial 

Ans. 3) Cushing syndrome 

Also read: Autoimmune Polyglandular Syndromes And Ipex Syndrome

Q8. Cortisol is a steroid hormone that regulates many vital processes throughout the body, including metabolism and the immune response. What condition is characterized by signs and symptoms due to excessive free cortisol hormones released by the adrenal cortex?

1. Cushing's Syndrome

2. Addison's Disease

3. Graves’ Disease

4. Hashimoto’s Disease 

Ans. 1) Cushing's Syndrome 

Q9. A 5-year-old boy is brought by his mother to the pediatric department with complaints of easy bruising for the last two days. She reports that her son is obese in his weight. His examination reveals a protruded abdomen with striae, buffalo hump, coarse pubic hair and moon facies. His laboratory investigation results indicate impaired glucose tolerance. An MRI scan of the brain reveals a tumour in the pituitary gland. Which of the following lab findings would be seen on the diagnostic evaluation of this patient?

1. High Cortisol/High ACTH

2. Low Cortisol/High ACTH

3. Low Cortisol/Low ACTH

4. High Cortisol/low ACTH 

Ans. 1) High Cortisol/High ACTH 

Q10. A 12-year-old boy is brought by his father to the pediatric outpatient department with complaints of easy bruising and darkened skin for the last four months. His blood pressure is 160/100mmHg, and his BSR is 285 mg/dL. On examination, moon's face with a plethora of buffalo hump, acne over the face, striae over his thighs and central obesity present. Which of the following tests will identify the cause of hypercortisolism in this patient?

 1. Low-dose dexamethasone suppression test

2. Late-night salivary cortisol

3. High-dose dexamethasone suppression test

4. 24-hour urinary cortisol 

Ans. 3) High-dose dexamethasone suppression test 

Also read: Maternal Diabetes And Neonatal outcomes

Q11. A 7-year-old boy presents to the paediatric outpatient department with developmental delay, behavioural changes, and increasing difficulty in walking for the past few months. The boy's mother reports that he also has been having episodes of vomiting and diarrhoea for the past few weeks. Family history is positive for the sudden death of his brother at the age of 4. Physical examination reveals hyperpigmented skin and hepatomegaly. Which of the following is the most likely diagnosis?

1. Adrenal insufficiency

2. X-linked Adrenoleukodystrophy (ALD)

3. Reye's syndrome

4. Adrenomyeloneuropathy (AMN) 

Ans. 2) X-linked Adrenoleukodystrophy (ALD) 

Q12. A 12-year-old female presents to the paediatric outpatient clinic because of a 2-week history of fatigue, weakness, low-grade fever, weight loss, and abdominal pain. Physical examination shows darkening of the skin, postural hypotension, and hypoglycaemia. Which of the following is the most probable diagnosis?

1. Hypothyroidism

2. Acute adrenal insufficiency (Addisonian crisis)

3. Systemic lupus erythematosus (SLE)

4. Multiple sclerosis (MS)

Ans. 2) Acute adrenal insufficiency (Addisonian crisis) 

Also read: Juvenile Dermatomyositis (JDM): Causes, Symptoms, Diagnosis

Q13. A 5-year-old boy presents with weight loss over the previous 2 weeks and nighttime enuresis. He has become increasingly confused for the last several hours. His breath smells fruity. On examination, his blood pressure is 90/60 mmHg, and his heart rate is 130 beats per minute. His mucus membranes are dry, and respiration is rapid and deep (Kussmaul breathing). His blood glucose level is 550 mg/dl. Additionally, he frequently omits the dose of his insulin. What is the most likely complication of diabetes here?

 1. Diabetic ketoacidosis

2. Hyperosmolar nonketotic coma

3. Diabetes insipidus

4. Syndrome of inappropriate ADH 

Ans. 1) Diabetic ketoacidosis

Q14. A 3-year-old child is brought to the clinic with a history of recent weight loss, irritability, and increased appetite. The parents also reported that the child's hair is thinning, and she is sweating excessively. The physician suspects the child may have hyperthyroidism. What is the most appropriate diagnostic test to confirm the diagnosis?

1. T3 uptake test

2. Thyroid-stimulating hormone (TSH) test

3. Total triiodothyronine (TT3) test

4. Thyroid-binding globulin (TBG) test

Ans. 2) Thyroid-stimulating hormone (TSH) test

Q15. A 5-year-old child presents with symptoms of increased thirst and urination, fatigue, and weight gain. On physical examination, the child has a cranial mass and is found to have elevated levels of growth hormone. Which of the following is the most likely indication for surgical treatment of this patient's pituitary adenoma?

1. Persistent visual field defects

2. Hypoglycemia

3. Acromegaly

4. Increased intracranial pressure 

Ans. 1) Persistent visual field defects

Also read: Image Based Questions On Musculoskeletal

Hope you found this blog helpful for your NEET SS Pediatrics Preparation. For more informative and interesting posts like these, keep reading PrepLadder’s blogs. 

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