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Home > West Medicine > Internal Medicine > Endocrinology

Classroom classification

百科

5-alpha-reductase 2 deficiency

内分泌科

Common symptoms

盲袋阴道、男性化

The pathology of disease

Steroid 5-alpha-reductase 2 deficiency is autosomal recessive 46XY disorder; ambiguous genitalia at birth; virilization at puberty; raised testosterone/DHT ratio; genetic.

Symptoms

Ambiguous genitalia at birth; raised as female; virilization at puberty; no breast development; high T/DHT ratio; infertility

Causes

SRD5A2 gene mutation; autosomal recessive; impaired DHT synthesis.

Treatment

Gender assignment; DHT; surgery; psychosocial support; endocrinology/genetics

Dept

Endocrinology / genetics / urology / gynecology.

Warm reminder: Health education reference only; seek care at regular hospital.

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