A Neonate Is Brought to the Endocrinologist with Ambiguous External $\alpha$

question 16

Multiple Choice

A neonate is brought to the endocrinologist with ambiguous external genitalia. It is determined that the infant has ovaries and internal female genitalia, but external virilization (ambiguous genitalia) . Which of the following diagnoses is the most likely?

• A) Turner's syndrome (45, XO)
• B) Klinefelter's syndrome (47, XXY)
• C) Congenital adrenal hyperplasia
• D) Deficient estrogens during fetal life
• E) 5\(\alpha\)-reductase mutation

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Definitions:

Heritability

Heritability is a measure of how much of the variation in a trait among individuals within a population can be attributed to genetic differences.

Concordance

The agreement or harmony between treatments, behaviors, or opinions among individuals or in data, often used in genetics and medicine to describe the similarity in illness or traits.

Hereditary Trait

A feature or characteristic passed from one generation to another through genes.

Reaction Range

Potential variability, depending on environmental conditions, in the expression of a hereditary trait.