17-beta hydroxysteroid dehydrogenase 3 deficiency

Disease Overview

17-beta hydroxysteroid dehydrogenase 3 deficiencyis an inherited condition that affects male sexual development. People with this condition are genetically male and have testes, but do not produce enough testosterone. Most people with this condition are born with external genitalia that appear female. In some cases, the external genitalia are ambiguous or appear male but are abnormal in size and/or appearance. During puberty, people with this condition typically go on to develop male secondary sex characteristics, such as increased muscle mass, deepening of the voice, and development of male pattern body hair. 17-beta hydroxysteroid dehydrogenase 3 deficiency is caused by mutations in the HSD17B3 gene and is inherited in an autosomal recessive pattern.[1597]

Synonyms

• 17 alpha ketosteroid reductase deficiency of testis
• 17 alpha KSR deficiency
• Neutral 17 beta hydroxysteroid oxidoreductase deficiency
• Male pseudoherma-phroditism with gynecomastia
• 17 beta hydroxysteroid dehydrogenase III deficiency