Pediatrics: Ambiguous Genitalia Case Study

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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?

Restart prednisone at 5 mg/kg per day 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?

Hypospadias Signup and view all the answers

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

Dopamine and dextrose intravenously Signup and view all the answers

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

Congenital Adrenal Hyperplasia 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?

Mixed Gonadal Dysgenesis Signup and view all the answers

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

Virilizing ovarian tumor Signup and view all the answers

Which enzyme deficiency is NOT associated with congenital adrenal hyperplasia?

Aromatase (P450arom or CYP19) deficiency Signup and view all the answers

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?

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

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

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?

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?

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

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

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

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

Which enzyme deficiency is NOT associated with congenital adrenal hyperplasia?

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