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Pediatric Endocrinology
Disorders of Growth and Development: Review Questions
Frank J. Genuardi, MD, MPH
Dr. Genuardi is an associate professor, Department of Pediatrics, and assistant dean for educational affairs, University of Florida Health Science Center, Jacksonville, FL.
Choose the single best answer for each question.
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Questions 1 and 2 refer to the following case.
A 9-year-old boy presents to his primary care physician because his parents are concerned about his height. He is the shortest boy in his 4th grade class. He was born at term without complications and has never been hospitalized or had any surgeries. He does well in school and is active in sports. His father is 5 ft 8 in, and his mother is 5 ft 3 in. On physical examination, his height is 48.5 in (5th percentile for age), he weighs 52 lb (10th percentile for age), and his body mass index (BMI) is 15.5 kg/m2 (35th percentile for age). He has no pubic, axillary, or facial hair. He has normal male external genitalia, and testes are descended bilaterally with a testicular volume of 2 cm3 (prepubertal). The remainder of his physical examination is normal.
1. Which of the following is the most appropriate next step in the management of this patient?
- Bone age determination
- Computed tomography scan of the head
- Karyotype determination
- Testing of the serum testosterone level
- Thyroid function testing
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2. Which of the following is this patients most likely diagnosis if testing shows that bone age is consistent with chronologic age?
- Growth hormone deficiency
- Hypothyroidism
- Klinefelters syndrome
- Malnutrition
- Normal growth
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3. A 13-year-old girl presents to her primary care physician because her mother is concerned that she has not yet begun menstruating. Maternal menarche was at age 11 years. The patient is on no medications and has never been hospitalized or had any surgeries. She is in the 7th grade, does well in school, and is active in sports. She denies sexual activity. On physical examination, her height is 60 in (25th percentile for age), she weighs 94 lb (35th percentile for age), and her BMI is 18.4 kg/m2 (45th percentile for age). She has Tanner stage 3 breasts and pubic hair. Which of the following is the most appropriate next step in this patients management?
- Bone age determination
- Estrogen therapy
- Follicle-stimulating hormone and luteinizing hormone determination
- Reassurance
- Thyroid function testing
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4. A 15-year-old girl presents to her primary care physician because her mother is concerned that she has not yet begun menstruating. Maternal menarche was at age 13 years. The patient is on no medications and has never been hospitalized or had any surgeries. She is in the 9th grade and does well in school. She does not participate in sports but does play in the school band. She denies sexual activity. On physical examination, her height is 54 in (< 5th percentile for age), she weighs 102 lb (25th percentile for age), and her BMI is 24.6 kg/m2 (85th percentile for age). She has Tanner stage 1 breasts with widely spaced nipples and Tanner 3 stage pubic hair. Which of the following is this patients most likely diagnosis?
- Craniopharyngioma
- Hypothyroidism
- Normal development
- Polycystic ovarian disease
- Turners syndrome
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