Associated Papers
A method to comprehensively identify germline SNVs, INDELs and CNVs from whole exome sequencing data of BRCA1/2 negative breast cancer patients.
Bianchi A et al.
Nar Genomics and Bioinformatics, 2024
Serum steroid metabolite profiling by LC-MS/MS in two phenotypic male patients with HSD17B3 deficiency: Implications for hormonal diagnosis.
Fujisawa Y et al.
The Journal of Steroid Biochemistry and Molecular Biology, 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
Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals.
Shiga N et al.
Human Genome Variation, 2022
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
A Novel Compound Heterozygous Mutation of HSD17B3 Gene Identified in a Patient With 46,XY Difference of Sexual Development.
Cocchetti C et al.
Sexual Medicine, 2022
17β hydroxysteroid dehydrogenase 3 deficiency in 46,XY disorders of sex development: Our experience and a gender role-focused systematic review.
Krishnappa B et al.
Clinical Endocrinology, 2022
46,XY Sex Development Defect due to a Novel Homozygous (Splice Site) c.673_1G>C Variation in the HSD17B3 Gene: Case Report
Çiftci N et al.
Journal of Clinical Research in Pediatric Endocrinology, 2022
Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients.
Wen J et al.
American Journal of Medical Genetics. Part A, 2022
Primary Amenorrhea Due to Anatomical Abnormalities of the Reproductive Tract: Molecular Insight.
Kapczuk K et al.
International Journal of Molecular Sciences, 2021
Whole exome sequencing and functional characterization increase diagnostic yield in siblings with a 46, XY difference of sexual development (DSD).
Luna SE et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2021
Early and late diagnoses of 17β-Hydroxysteroid dehydrogenase type-3 deficiency in two unrelated patients.
Manyas H et al.
Andrologia, 2021
The evolving role of whole-exome sequencing in the management of disorders of sex development.
Tenenbaum-Rakover Y et al.
Endocrine Connections, 2021
Deleterious variants in genes regulating mammalian reproduction in Neanderthals, Denisovans and extant humans.
Greer C et al.
Human Reproduction (oxford, England), 2021
Performance of mutation pathogenicity prediction tools on missense variants associated with 46,XY differences of sex development.
Montenegro LR et al.
Clinics (sao Paulo, Brazil), 2021
The novel founder homozygous V225M mutation in the HSD17B3 gene causes aberrant splicing and XY-DSD.
Levy-Khademi F et al.
Endocrine, 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
Germ cell neoplasia in situ complicating 17β-hydroxysteroid dehydrogenase type 3 deficiency.
Folsom LJ et al.
Molecular and Cellular Endocrinology, 2019
Phenotype-driven gene prioritization for rare diseases using graph convolution on heterogeneous networks.
Rao A et al.
Bmc Medical Genomics, 2018
Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency.
Chen A et al.
Human Molecular Genetics, 2018
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
A novel HSD17B3 gene mutation in a 46,XY female-phenotype newborn identified by whole-exome sequencing.
Bertalan R et al.
Clinical Endocrinology, 2017
Novel cases of Tunisian patients with mutations in the gene encoding 17β-hydroxysteroid dehydrogenase type 3 and a founder effect.
Ben Rhouma B et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2017
46,XY disorder of sex development (DSD) due to 17β-hydroxysteroid dehydrogenase type 3 deficiency.
Mendonca BB et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2017
Rapid Molecular Genetic Diagnosis with Next-Generation Sequencing in 46,XY Disorders of Sex Development Cases: Efficiency and Cost Assessment.
Özen S et al.
Hormone Research in Paediatrics, 2017
Pubertal Development in 17Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency .
Hiort O et al.
Hormone Research in Paediatrics, 2017
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.
Eggers S et al.
Genome Biology, 2016
Severe Undervirilisation in a 46,XY Case Due to a Novel Mutation in HSD17B3 Gene.
Alikaşifoğlu A et al.
Journal of Clinical Research in Pediatric Endocrinology, 2015
Two different patterns of mini-puberty in two 46,XY newborns with 17β-hydroxysteroid dehydrogenase type 3 deficiency.
Demir K et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2015
A Novel Mutation Causing 17-β-Hydroxysteroid Dehydrogenase Type 3 Deficiency in an Omani Child: First Case Report and Review of Literature.
Al-Sinani A et al.
Oman Medical Journal, 2015
Exome sequencing for the diagnosis of 46,XY disorders of sex development.
Baxter RM et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
Complexities of gender assignment in 17β-hydroxysteroid dehydrogenase type 3 deficiency: is there a role for early orchiectomy?
Chuang J et al.
International Journal of Pediatric Endocrinology, 2013
A novel nonsense mutation in exon 1 of HSD17B3 gene in an Egyptian 46,XY adult female presenting with primary amenorrhea.
Hassan HA et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2013
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
Overview of genetic defects in endocrinopathies in the island of Cyprus; evidence of a founder effect.
Shammas C et al.
Genetic Testing and Molecular Biomarkers, 2012
46,XY karyotype in a female phenotype fetus: a challenging diagnosis.
Russo G et al.
Journal of Pediatric and Adolescent Gynecology, 2012
Duplication of exons 3-10 of the HSD17B3 gene: a novel type of genetic defect underlying 17β-HSD-3 deficiency.
Neocleous V et al.
Gene, 2012
17beta-hydroxysteroid dehydrogenase type 3 deficiency as a result of a homozygous 7 base pair deletion in 17betaHSD3 gene.
Alikasifoglu A et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2012
Isolated mild clitoral hypertrophy may reveal 46,XY disorders of sex development in infancy due to 17βHSD-3 defect confirmed by molecular analysis.
George MM et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2011
46,XY DSD due to 17β-HSD3 deficiency and 5α-reductase type 2 deficiency.
Inacio M et al.
Advances in Experimental Medicine and Biology, 2011
17-β-hydroxysteroid dehydrogenase type 3 deficiency in three adult Iranian siblings.
Omrani MD et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2011
A study of gender outcome of Egyptian patients with 46,XY disorder of sex development.
Ismail SI et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2010
The clinical and molecular heterogeneity of 17βHSD-3 enzyme deficiency.
George MM et al.
Hormone Research in Paediatrics, 2010
17beta-Hydroxysteroid dehydrogenase-3 deficiency: from pregnancy to adolescence.
Bertelloni S et al.
Journal of Endocrinological Investigation, 2009
17beta-hydroxysteroid dehydrogenase 3 deficiency in a male pseudohermaphrodite.
Mains LM et al.
Fertility and Sterility, 2008
Clinical, endocrine, and molecular findings in 17beta-hydroxysteroid dehydrogenase type 3 deficiency.
Faienza MF et al.
Journal of Endocrinological Investigation, 2008
17beta-hydroxysteroid dehydrogenase-3 deficiency: a rare endocrine cause of male-to-female sex reversal.
Bertelloni S et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2006