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

Unravelling a case of 46,XY DSD due to 17ß-Hydroxysteroid Dehydrogenase type 3 mutations at the age of 49

(2022) Aubin Garcia et al.   ANNALES D ENDOCRINOLOGIE

Prepubertal and pubertal gonadal morphology, expression of cell lineage markers and hormonal evaluation in two 46,XY siblings with 17β-hydroxysteroid dehydrogenase 3 deficiency

(2022) Benedikte von Spreckelsen et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

Disorders of Sex Development in a Large Ukrainian Cohort: Clinical Diversity and Genetic Findings

(2022) Evgenia Globa et al.   Frontiers in Endocrinology

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

(2022) Carlotta Cocchetti et al.   Sexual Medicine

How Far Should We Explore Hypospadias? Next-generation Sequencing Applied to a Large Cohort of Hypospadiac Patients

(2021) Vuthy Ea et al.   EUROPEAN UROLOGY

Early and late diagnoses of 17β‐Hydroxysteroid dehydrogenase type‐3 deficiency in two unrelated patients

(2021) Hayrullah Manyas et al.   ANDROLOGIA

A large cohort of disorders of sex development and their genetic characteristics: 6 novel mutations in known genes

(2021) Aysun Ata et al.   European Journal of Medical Genetics

Society for Endocrinology UK Guidance On The Initial Evaluation Of A Suspected Difference or Disorder Of Sex Development (DSD) (Revised 2021)

(2021) SF Ahmed et al.   CLINICAL ENDOCRINOLOGY

Towards improved genetic diagnosis of human differences of sex development

(2021) Emmanuèle C. Délot et al.   NATURE REVIEWS GENETICS

Detection of 46, XY Disorder of Sex Development (DSD) Based on Plasma Cell-Free DNA and Targeted Next-Generation Sequencing

(2021) Luigia De Falco et al.   Genes

Novel Deleterious Mutation in Steroid-5α-Reductase-2 in 46, XY Disorders of Sex Development: Case Report Study

(2020) Mahboobeh Rafigh et al.   Fetal and Pediatric Pathology

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

17β-hydroxysteroid dehydrogenase type 3 deficiency: female sex assignment and follow-up

(2020) M. F. Faienza et al.   JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION

Molecular genetics of disorders of sex development in a highly consanguineous population

(2020) Meshael Alswailem et al.   JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY

Gonadal malignancy in patients with differences of sex development

(2020) Jacqueline Morin et al.   Translational Andrology and Urology

46, XY Sex Development Defect due to a Novel Homozygous (splice site) c.673_1G>C Variation in the HSD17B3 Gene: Case Report

(2020) Nurdan Çiftci et al.   Journal of Clinical Research in Pediatric Endocrinology

Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD)

(2019) Lowri A Hughes et al.   Endocrine Connections

46,XY Disorder of Sex Development due to 17-Beta Hydroxysteroid Dehydrogenase Type 3 Deficiency in an Infant of Greek Origin

(2018) Assimina Galli Tsinopoulou et al.   Journal of Clinical Research in Pediatric Endocrinology

Biochemical Analysis of Four Missense Mutations in the HSD17B3 Gene Associated With 46,XY Disorders of Sex Development in Egyptian Patients

(2017) Roger T. Engeli et al.   Journal of Sexual Medicine

17β-Hydroxysteroid dehydrogenase 3 deficiency: Three case reports and a systematic review

(2017) Zuwei Yang et al.   JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY

Novel cases of Tunisian patients with mutations in the gene encoding 17β-hydroxysteroid dehydrogenase type 3 and a founder effect

(2017) Bochra Ben Rhouma et al.   JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY

46,XY disorder of sex development (DSD) due to 17β-hydroxysteroid dehydrogenase type 3 deficiency

(2017) Berenice B. Mendonca et al.   JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY

Novel mutations of HSD17B3 in three Chinese patients with 46,XY Disorders of Sex Development

(2017) Bingqing Yu et al.   STEROIDS

A study of splicing mutations in disorders of sex development

(2017) Flavia Leme de Calais et al.   Scientific Reports

Pubertal Development in
17Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency


(2016) Olaf Hiort et al.   Hormone Research in Paediatrics

Rapid Molecular Genetic Diagnosis with Next-Generation Sequencing in 46,XY Disorders of Sex Development Cases: Efficiency and Cost Assessment

(2016) Samim Özen et al.   Hormone Research in Paediatrics

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

(2016) Johan T. den Dunnen et al.   HUMAN MUTATION

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

(2016) Roger T. Engeli et al.   JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY

Mutational Profile of 10 Afflicted Egyptian Families with 17-β-HSD-3 Deficiency

(2016) Heba Amin Hassan et al.   Sexual Development

A novel missense mutation in HSD17B3 gene in a 46, XY adolescent presenting with primary amenorrhea and virilization at puberty

(2015) Hale Unver Tuhan et al.   CLINICA CHIMICA ACTA

Screening for mutations in 17 -hydroxysteroid dehydrogenase and androgen receptor in women presenting with partially virilised 46,XY disorders of sex development

(2015) N. Phelan et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Exome Sequencing for the Diagnosis of 46,XY Disorders of Sex Development

(2015) Ruth M. Baxter et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Two different patterns of mini-puberty in two 46,XY newborns with 17β-hydroxysteroid dehydrogenase type 3 deficiency

(2015) Korcan Demir et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

17βHSD-3 enzyme deficiency due to novel mutations in the HSD17B3 gene diagnosed in a neonate

(2015) Elif Sagsak et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

Pitfalls in hormonal diagnosis of 17-beta hydroxysteroid dehydrogenase III deficiency

(2015) Ahmed Khattab et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

Severe Undervirilisation in a 46,XY Case Due to a Novel Mutation in HSD17B3 Gene

(2015) Ayfer Alikaşifoğlu et al.   Journal of Clinical Research in Pediatric Endocrinology

17β-Hydroxysteroid dehydrogenase-3 deficiency: From pregnancy to adolescence

(2014) S. Bertelloni et al.   JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION

46,XY Disorder of Sex Development in a Sudanese Patient Caused by a Novel Mutation in theHSD17B3Gene

(2014) Mona Ellaithi et al.   Sexual Development

Clinical and molecular spectrum of patients with 17β-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) deficiency

(2013) Carla Cristina Telles de Sousa Castro et al.   Arquivos Brasileiros de Endocrinologia e Metabologia

A Novel Nonsense Mutation in Exon 1 ofHSD17B3Gene in an Egyptian 46,XY Adult Female Presenting with Primary Amenorrhea

(2013) H.A. Hassan et al.   Sexual Development

Novel Mutation Among Two Sisters With 17β Hydroxysteroid Dehydrogenase Type 3 Deficiency

(2013) Eric Z. Massanyi et al.   UROLOGY

Duplication of exons 3–10 of the HSD17B3 gene: A novel type of genetic defect underlying 17β-HSD-3 deficiency

(2012) Vassos Neocleous et al.   GENE

46,XY Karyotype in a Female Phenotype Fetus: A Challenging Diagnosis

(2012) Gianni Russo et al.   Journal of Pediatric and Adolescent Gynecology

17β-Hydroxysteroid dehydrogenase type 3 deficiency as a result of a homozygous 7 base pair deletion in 17βHSD3 gene

(2012) Ayfer Alikasifoglu et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

A Novel Nonsense Mutation in HSD17B3 Gene in a Tunisian Patient with Sexual Ambiguity

(2012) Bochra Ben Rhouma et al.   Journal of Sexual Medicine

Testosterone Synthesis in Patients with 17ß-Hydroxysteroid Dehydrogenase 3 Deficiency

(2012) R. Werner et al.   Sexual Development

Isolated mild clitoral hypertrophy may reveal 46,XY disorders of sex development in infancy due to17βHSD-3defect confirmed by molecular analysis

(2011) Minu M. George et al.   GYNECOLOGICAL ENDOCRINOLOGY

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

17-β-Hydroxysteroid Dehydrogenase Type 3 Deficiency in Three Adult Iranian Siblings

(2011) M.D. Omrani et al.   Sexual Development

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

The Clinical and Molecular Heterogeneity of 17βHSD-3 Enzyme Deficiency

(2010) Minu M. George et al.   Hormone Research in Paediatrics

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

17β-hydroxysteroid dehydrogenase 3 deficiency in a male pseudohermaphrodite

(2007) Lindsay M. Mains et al.   FERTILITY AND STERILITY