Associated Papers
Molecular Diagnosis of 46,XY Disorders of Sex Development: An Efficient Initial Molecular Analysis Using a Custom-Designed Targeted Gene Panel in a Single-Center Study.
Poyrazoglu S et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2026
[Clinical, hormonal and molecular genetic characteristics of patients with 46,XY disorders of sex development associated with variants in the HSD17B3 gene].
Kalinchenko NY et al.
Problemy Endokrinologii, 2024
Virilization at puberty in adolescent girls may reveal a 46,XY disorder of sexual development.
Bergougnoux A et al.
Endocrine Connections, 2023
Changes in the clinical management of 5α-reductase type 2 and 17β-hydroxysteroid dehydrogenase type 3 deficiencies in France.
Bonnet E et al.
Endocrine Connections, 2023
Disorder of Sex Development Due to 17-Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency: A Case Report and Review of 70 Different HSD17B3 Mutations Reported in 239 Patients.
Gonçalves CI et al.
International Journal of Molecular Sciences, 2022
Prepubertal and pubertal gonadal morphology, expression of cell lineage markers and hormonal evaluation in two 46,XY siblings with 17β-hydroxysteroid dehydrogenase 3 deficiency.
von Spreckelsen B et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2022
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
Elliott AM et al.
Hgg Advances, 2022
Disorders of Sex Development in a Large Ukrainian Cohort: Clinical Diversity and Genetic Findings.
Globa E et al.
Frontiers in Endocrinology, 2022
17β-hydroxysteroid dehydrogenase type 3 deficiency: female sex assignment and follow-up.
Faienza MF et al.
Journal of Endocrinological Investigation, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD).
Hughes LA et al.
Endocrine Connections, 2019
Integrating clinical and genetic approaches in the diagnosis of 46,XY disorders of sex development.
Kolesinska Z et al.
Endocrine Connections, 2018
A study of splicing mutations in disorders of sex development.
de Calais FL et al.
Scientific Reports, 2017
17β-Hydroxysteroid dehydrogenase 3 deficiency: Three case reports and a systematic review.
Yang Z et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2017
Pubertal Development in 17Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency .
Hiort O et al.
Hormone Research in Paediatrics, 2017
Biochemical analyses and molecular modeling explain the functional loss of 17β-hydroxysteroid dehydrogenase 3 mutant G133R in three Tunisian patients with 46, XY Disorders of Sex Development.
Engeli RT et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2016
Clinical and molecular spectrum of patients with 17β-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) deficiency.
Castro CC et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2012