A 2-week-old girl is admitted to the hospital for dehydration and vomiting. She had an uncomplicated vaginal delivery at home and did not undergo newborn screening. Breastfeeding has been difficult due to the newborn's lethargy and frequent vomiting. The mother has no medical problems, took no medications during the pregnancy, and had normal prenatal laboratory results. Family history is significant for a brother who died at age 1 month from severe dehydration several years ago. The newborn has a 2-year-old sister who is healthy. Vital signs show hypotension and tachycardia. Examination shows a sunken fontanelle and ambiguous genitalia. The rest of the examination is unremarkable. Abdominal x-ray, abdominal ultrasound, and upper gastrointestinal studies are normal. Karyotype analysis is pending. Serum chemistry results are as follows: Which of the following is the best next step in the treatment of this patient's condition?

Question

A 2-week-old girl is admitted to the hospital for dehydration and vomiting.  She had an uncomplicated vaginal delivery at home and did not undergo newborn screening.  Breastfeeding has been difficult due to the newborn's lethargy and frequent vomiting.  The mother has no medical problems, took no medications during the pregnancy, and had normal prenatal laboratory results.  Family history is significant for a brother who died at age 1 month from severe dehydration several years ago.  The newborn has a 2-year-old sister who is healthy.  Vital signs show hypotension and tachycardia.  Examination shows a sunken fontanelle and ambiguous genitalia.  The rest of the examination is unremarkable.  Abdominal x-ray, abdominal ultrasound, and upper gastrointestinal studies are normal.  Karyotype analysis is pending.  Serum chemistry results are as follows:  Which of the following is the best next step in the treatment of this patient's condition?

Quizplus · Accepted Answer

Explanation: 11ec2b69_bead_bc25_8f63_19ca28a45dce_MD0005_00 The gold standard of treatment for classic congenital adrenal hyperplasia (CAH) includes chronic glucocorticoid and mineralocorticoidtreatment to maintain normal blood pressure, electrolytes, growth, and weight gain, and to suppress adrenal androgens. Hydrocortisone is the most common glucocorticoid used in infants and children. Fludrocortisone is given for mineralocorticoid replacement. Infants may require salt supplementation until they begin eating solid foods. (Choice A) Virilized 46,XX girls with CAH can undergo clitoroplasty and vaginoplasty when the patient is stable and the parents are emotionally prepared. However, medical stabilization and treatment of the underlying steroid deficiency with glucocorticoids are the priority for this hypotensive patient. (Choice B) Estrogen therapy is not warranted in this virilized girl. Administration of glucocorticoids and mineralocorticoids will suppress excessive androgen production. Virilization is reversible only by surgery. (Choice D) Progesterone levels are elevated in CAH; these patients do not require additional progesterone. (Choice E) Infants with galactosemia should receive soy formula, not breast milk and cow's milk formula. However, those with CAH can continue with breast milk as it is the best form of infant nutrition. Educational objective: All patients with congenital adrenal hyperplasia require chronic glucocorticoid and mineralocorticoid replacement to maintain blood pressure and growth and to suppress adrenal androgens. Virilization of external female organs can be corrected by clitoroplasty and vaginoplasty when the patient is stable and the parents are emotionally prepared. References: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency: from birth to adulthood. (http://www.ncbi.nlm.nih.gov/pubmed/23044877) Congenital adrenal hyperplasia: issues in diagnosis and treatment in children. (http://www.ncbi.nlm.nih.gov/pubmed/24254335)

A 2-Week-Old Girl Is Admitted to the Hospital for Dehydration