A 14-year-old girl is brought to the physician because she frequently experiences cramping and pain in her legs during school sports. She is at the 10th percentile for height. Her blood pressure is 155/90 mm Hg. Examination shows a high-arched palate with maloccluded teeth and a low posterior hairline. The patient has a broad chest with widely spaced nipples. Pelvic examination shows normal external female genitalia with scant pubic hair. Without appropriate treatment, this patient is at the greatest risk of developing which of the following complications?
AAlzheimer disease
BHyperphagia
CPulmonary stenosis
DOsteoporosis
ESevere acne
A 7-day-old male infant presents to the pediatrician for weight loss. There is no history of excessive crying, irritability, lethargy, or feeding difficulty. The parents deny any history of fast breathing, bluish discoloration of lips/nails, fever, vomiting, diarrhea, or seizures. He was born at full term by vaginal delivery without any perinatal complications and his birth weight was 3.6 kg (8 lb). Since birth he has been exclusively breastfed and passes urine six to eight times a day. His physical examination, including vital signs, is completely normal. His weight is 3.3 kg (7.3 lb); length and head circumference are normal for his age and sex. Which of the following is the next best step in the management of the infant?
AReassurance of parents
BEvaluation of the mother for malnutrition
CAdmission of the infant in the NICU to treat with empiric intravenous antibiotics
DEmphasize the need to clothe the infant warmly to prevent hypothermia
ESupplementation of breastfeeding with an appropriate infant formula
A 5-year-old boy is brought to the physician because of behavioral problems. His mother says that he has frequent angry outbursts and gets into fights with his classmates. He constantly complains of feeling hungry, even after eating a full meal. He has no siblings, and both of his parents are healthy. He is at the 25th percentile for height and is above the 95th percentile for weight. Physical examination shows central obesity, undescended testes, almond-shaped eyes, and a thin upper lip. Which of the following genetic changes is most likely associated with this patient's condition?
AMitotic nondisjunction of chromosome 21
BMutation of FBN-1 gene on chromosome 15
CMicrodeletion of long arm of chromosome 7
DLoss of paternal gene expression on chromosome 15
EDeletion of Phe508 on chromosome 7
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