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Case Reports
. 2022 Aug;10(4):100522.
doi: 10.1016/j.esxm.2022.100522. Epub 2022 May 17.

A Novel Compound Heterozygous Mutation of HSD17B3 Gene Identified in a Patient With 46,XY Difference of Sexual Development

Carlotta Cocchetti  1 , Fulvia Baldinotti  2 , Alessia Romani  1 , Jiska Ristori  1 , Francesca Mazzoli  1 , Linda Vignozzi  1 , Mario Maggi  3 , Alessandra Daphne Fisher  4
Affiliations
Case Reports

A Novel Compound Heterozygous Mutation of HSD17B3 Gene Identified in a Patient With 46,XY Difference of Sexual Development

Carlotta Cocchetti et al. Sex Med. 2022 Aug.

Abstract

Introduction: Deficiency of the 17β-hydroxysteroid dehydrogenase type 3 (17 β-HSD3) is a rare autosomal recessive 46,XY Difference of sex development (DSD), resulting from pathogenetic variants in the HSD17B3 gene, which lead to absent or reduced ability to convert Δ4-androstenedione to testosterone in the fetal testes.

Aim: This study aimed to present the clinical and genetic characteristics of an Italian patient receiving a diagnosis of 17 β-HSD3 deficiency in adulthood. The patient was raised as female and underwent early surgical interventions to correct virilized genitalia, leading to a significant sexual distress.

Methods: At the time of the referral, a 20-gene Next Generation Sequencing custom-panel for DSD was performed on patient's genomic DNA.

Results: A novel compound heterozygous mutation in HSD17B3 gene was identified, detecting a new variant (c.257_265delAGGCCATTG, p.) CONCLUSION: Novel genotype causing 17 β-HSD3 deficiency is presented. Furthermore, the patient's clinical history stresses the importance to actively involve these individuals in the decision-making process avoiding surgical intervention when the patient is not able to give fully informed consent. Cocchetti C, Baldinotti F, Romani A, et al. A Novel Compound Heterozygous Mutation of HSD17B3 Gene Identified in a Patient With 46,XY Difference of Sexual Development. Sex Med 2022;10:100522.

Keywords: 17β-Hydroxysteroid Dehydrogenase Type 3; DSD; Differences of Sexual Development; Gender Identity; GnRH Analogues.

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