Diagnosis of 17β-hydroxysteroid dehydrogenase deficiency

Abstract

17β-hydroxysteroid dehydrogenase deficiency is a rare autosomal recessive inherited disorder of sex development, affecting only 46,XY individuals. It is due to mutations in the HSD17B3 gene, encoding the 17β-hydroxysteroid-dehydrogenase type 3 enzyme. Mutated enzymes lead to absent or reduced ability to convert Δ₄-androstenedione to testosterone in the testis. Affected 46,XY individuals present with testes located in the inguinal canal and underdeveloped or hypoplastic Wolffian structures, but female or ambiguous external genitalia. Such individuals are usually raised as females, but show spontaneous virilization at puberty. Correct diagnosis is mandatory to optimize treatment and follow-up. The clinical and laboratory approach, as well as the follow-up of subjects with 17β-hydroxysteroid-dehydrogenase deficiency, are detailed in this review, and the genetic mutations characterized to date are summarized.

Keywords::

• 17β-hydroxysteroid dehydrogenase type 3 deficiency
• 17β-HSD3
• disorders of sex development
• HSD17B3
• male/female sex reversal
• testosterone/Δ₄-androstenedione ratio

Financial & competing interests disclosure

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

No writing assistance was utilized in the production of this manuscript.

Notes

AMH: Anti-Müllerian hormone; hCG: Human chorionic gonadotropin.

Adapted from [56–58].

hCG: Human chorionic gonadotropin.

Data from [4].