Pediatrics: Ambiguous Genitalia Case Study
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Questions and Answers

Which of the following is the most common cause of ambiguous genitalia in a newborn with a small phallus, hypospadias, bifid scrotum, and scrotal gonads?

  • 5-α reductase deficiency (correct)
  • Turner syndrome
  • Partial androgen insensitivity
  • Denys-Drash syndrome

In a child with classic 21-hydroxylase deficiency (congenital adrenal hyperplasia) presenting with gastroenteritis and hypoglycemia, what is the most appropriate initial treatment?

  • Intramuscular hydrocortisone
  • Oral hydrocortisone
  • Intramuscular cortisone acetate and aldosterone intravenously (correct)
  • Intravenous glucose

In the case of renal agenesis, which of the following statements is true regarding the physical examination findings?

  • The phallus is over 1 cm in length
  • The urethral meatus is at the base of the penis
  • The scrotum is single and not bifid (correct)
  • The gonads are not palpable in the scrotum

Which of the following treatments should be considered for the 4-year-old boy with asthma who developed nausea and severe fatigue after discontinuing fluticasone and prednisone?

<p>Restart prednisone at 5 mg/kg per day (A)</p> Signup and view all the answers

What is the disorder MOST likely associated with the condition described in the neonate with a well-developed rugated scrotum, a 2 cm phallus with a urethral meatus at the base of the penile shaft?

<p>Hypospadias (A)</p> Signup and view all the answers

Which of the following treatments was NOT mentioned for the 4-year-old boy with severe recurrent asthma?

<p>Dopamine and dextrose intravenously (D)</p> Signup and view all the answers

Which genetic disorder is commonly associated with 21-hydroxylase deficiency?

<p>Congenital Adrenal Hyperplasia (B)</p> Signup and view all the answers

In the context of Disorders of Sex Development (DSD), which condition is characterized by hypospadias and one palpable gonad?

<p>Mixed Gonadal Dysgenesis (C)</p> Signup and view all the answers

Which maternal source can lead to virilization in newborns with ambiguous genitalia?

<p>Virilizing ovarian tumor (A)</p> Signup and view all the answers

Which enzyme deficiency is NOT associated with congenital adrenal hyperplasia?

<p>Aromatase (P450arom or CYP19) deficiency (C)</p> Signup and view all the answers

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