DHX37 Variant Is One of the Common Genetic Causes in Japanese Patients with Testicular Regression Syndrome/Partial Gonadal Dysgenesis without Müllerian Derivatives
Authors' conclusion
DHX37 variant is one of the common genetic causes in Japanese patients with TRS/PGD without Müllerian derivatives. Genetic test is helpful in detecting DHX37-related TRS/PGD because of the phenotypic diversity of the external genitalia in this disorder.
Study context
- Population
- Japanese 46,XY individuals with testicular regression syndrome (TRS)/partial gonadal dysgenesis (PGD) with undetected or hypoplastic testes, Müllerian duct regression, and low serum testosterone or AMH levels10 families
- Participants
- 11 participants
- Outcome
- Genetic causes of TRS/PGD
Methodological detailstargeted sequencing of 36 known differences of sex development (DSD) genes, Sanger sequencing of DHX37, or whole-exome sequencing
- Targeted sequencing of 36 known DSD genes, Sanger sequencing of DHX37, or whole-exome sequencing
Main finding
As reported in the abstract
- Previously described pathogenic or novel nonsense variants (SRY, NR5A1, DMRT1)
- 4 of 10 families
- Heterozygous rare DHX37 variants
- 4 families
- DHX37 c.923G>A, p.Arg308Gln (previously reported pathogenic)
- 3 families
- DHX37 c.1882A>C, p.Thr628Pro (novel likely pathogenic)
- 1 family
- Monogenic disorders
- 80%
- DHX37 variant, the most commonly identified
- 40%
Observational data: associations, not effects.
Further findings
- External genitalia of DHX37 variant carriers varied from female-type to male-type without micropenis
- External or internal genital phenotype overlaps between DHX37 variant carriers and others
Original publication
DHX37 Variant Is One of the Common Genetic Causes in Japanese Patients with Testicular Regression Syndrome/Partial Gonadal Dysgenesis without Müllerian Derivatives. Horm Res Paediatr. Published 15 February 2024. doi:10.
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