17β-hydroxysteroid dehydrogenase type 3 deficiency: female sex assignment and follow-up

M. F. Faienza, F. Baldinotti, G. Marrocco, N. TyuTyusheva, D. Peroni, G. I. Baroncelli, S. Bertelloni

Research output: Contribution to journalArticlepeer-review

Abstract

Background: Deficiency of 17β-hydroxysteroid dehydrogenase type 3 (17β-HSD3) is a rare autosomal recessive 46,XY disorder of sex development (DSD). It is due to pathogenetic variants in the HSD17B3 gene. Mutated genes encode an abnormal enzyme with absent or reduced ability to convert Δ4-androstenedione (Δ4-A) to testosterone (T) in the fetal testis. Affected individuals are usually raised as females and diagnosis is made at puberty, when they show virilization. Methods: A girl with a presumptive diagnosis of complete androgen insensitivity syndrome underwent endocrine and genetic assessment. Long-term follow-up was reported. Results: The diagnosis of 17β-HSD3 deficiency was made (stimulated T/Δ4-A ratio: 0.15; HSD17B3 gene analysis: c.277+4A>T in intron 3/c.640_645del (p.Glu214_Glu215del) in exon 9. After extensive information, parents decided to maintain female sex. Gonadal removal was performed and histological evaluation demonstrated deep fibrosis of testicular tissue. Follow-up till 8.5 years of age showed somatic and neuro-psychological development fitting with the female sex. Conclusions: Management of a child with the rare 17β-HSD3 deficiency remains challenging. Any decision must be carefully evaluated with parents. Long-term follow-up must be warranted by a multidisciplinary DSD team to evaluate the adequacy of the choices made on quality of life in later life.

Original languageEnglish
Pages (from-to)1711-1716
Number of pages6
JournalJournal of Endocrinological Investigation
Volume43
Issue number12
DOIs
Publication statusPublished - Dec 2020
Externally publishedYes

Keywords

  • 17β-hydroxysteroid dehydrogenase deficiency
  • Follow-up
  • HSD17B3 gene
  • Molecular diagnosis
  • Sex assignment

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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