Question 1

What is the Meaning of Congenital Aromatase Deficiency?

Accepted Answer

Congenital Aromatase Deficiency is a rare autosomal recessive genetic disorder caused by complete or partial absence of functional aromatase enzyme (CYP19A1). This enzyme is crucial for converting androgens into estrogens. Its absence prevents the body from synthesizing estrogens, leading to a distinct hormonal profile.

Question 2

What is the Context of Congenital Aromatase Deficiency?

Accepted Answer

This condition operates within the steroidogenesis pathway, a series of enzymatic reactions primarily in the gonads, adrenal glands, and adipose tissue. Aromatase serves as the final, rate-limiting step in estrogen biosynthesis. Without sufficient aromatase activity, the normal balance between androgens and estrogens is severely disrupted.

Question 3

What is the Significance of Congenital Aromatase Deficiency?

Accepted Answer

Understanding congenital aromatase deficiency is crucial for diagnosing individuals presenting with ambiguous genitalia, delayed puberty, or virilization in females, and eunuchoidism or osteopenia in males. Early identification guides appropriate hormone replacement therapy, mitigating long-term health consequences like compromised bone mineral density and impaired fertility.

Question 4

What is the Mechanism of Congenital Aromatase Deficiency?

Accepted Answer

The underlying mechanism involves a mutation in the CYP19A1 gene, which encodes the aromatase enzyme. This genetic defect impairs or abolishes the enzyme's ability to catalyze the aromatization of C19 steroids, preventing estrogen formation. Consequently, androgenic precursors accumulate, leading to elevated circulating androgen levels and a significant estrogen deficiency.

Question 5

What is the Application of Congenital Aromatase Deficiency?

Accepted Answer

Clinically, congenital aromatase deficiency manifests based on sex and age, presenting as maternal virilization, ambiguous external genitalia in female neonates, or delayed pubertal development. Diagnosis involves comprehensive hormonal profiling, including high androgen and very low estrogen levels, confirmed by genetic testing. Management involves estrogen replacement therapy to promote feminization, bone health, and metabolic balance.

Question 6

What is the Metric of Congenital Aromatase Deficiency?

Accepted Answer

Diagnosis and monitoring rely on specific serum biochemical markers. Key measurements include elevated testosterone and androstenedione, alongside suppressed or undetectable estradiol and estrone. Genetic sequencing of the CYP19A1 gene provides definitive confirmation by identifying pathogenic variants. Bone mineral density assessments, like DEXA scans, also monitor skeletal health.

Question 7

What is the Risk of Congenital Aromatase Deficiency?

Accepted Answer

Without appropriate medical management, congenital aromatase deficiency poses several clinical risks. Untreated individuals face complications including severe osteopenia or osteoporosis due to chronic estrogen deficiency, increasing fracture risk. Females may experience progressive virilization, primary amenorrhea, and impaired fertility. Males can develop eunuchoidism, delayed epiphyseal fusion, and metabolic issues, necessitating lifelong hormonal support.

Congenital Aromatase Deficiency

Meaning

Context

Significance

Mechanism

Application

Metric

Risk

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