Introduction: Deficiency of the 17 beta-hydroxysteroid dehydrogenase type 3 (17 beta-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 delta 4-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 beta-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 beta-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. Copyright (c) 2022 The Authors. Published by Elsevier Inc. on behalf of the International Society for Sexual Medicine. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/)

A Novel Compound Heterozygous Mutation of HSD17B3 Gene Identified in a Patient With 46,XY Difference of Sexual Development / Cocchetti, Carlotta; Baldinotti, Fulvia; Romani, Alessia; Ristori, Jiska; Mazzoli, Francesca; Vignozzi, Linda; Maggi, Mario; Fisher, Alessandra Daphne. - In: SEXUAL MEDICINE. - ISSN 2050-1161. - ELETTRONICO. - 10:(2022), pp. 100522-100522. [10.1016/j.esxm.2022.100522]

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

Cocchetti, Carlotta;Romani, Alessia;Ristori, Jiska;Mazzoli, Francesca;Vignozzi, Linda;Maggi, Mario;Fisher, Alessandra Daphne
2022

Abstract

Introduction: Deficiency of the 17 beta-hydroxysteroid dehydrogenase type 3 (17 beta-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 delta 4-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 beta-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 beta-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. Copyright (c) 2022 The Authors. Published by Elsevier Inc. on behalf of the International Society for Sexual Medicine. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/)
10
100522
100522
Goal 3: Good health and well-being
Cocchetti, Carlotta; Baldinotti, Fulvia; Romani, Alessia; Ristori, Jiska; Mazzoli, Francesca; Vignozzi, Linda; Maggi, Mario; Fisher, Alessandra Daphne
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2158/1285685
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