233 top medical experts on Gonadal Dysgenesis across 39 countries and 21 U.S. states, including 57 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Gonadal Dysgenesis: A number of syndromes with defective gonadal developments such as streak gonads and dysgenetic testes or ovaries. The spectrum of gonadal and sexual abnormalities is reflected in their varied sex chromosome (SEX chromosomes) constitution as shown by the karyotypes of 45,X monosomy (turner syndrome); 46,XX (gonadal dysgenesis, 46XX); 46,XY (gonadal dysgenesis, 46,XY); and sex chromosome mosaicism; (gonadal dysgenesis, mixed). Their phenotypes range from female, through ambiguous, to male. This concept includes gonadal agenesis.
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Broader Categories (#Experts): Disorders of Sex Development (1,028) and Narrower Categories: 46,XX Gonadal Dysgenesis (433), 46,XY Gonadal Dysgenesis (1,350), Mixed Gonadal Dysgenesis (228), Sexual Infantilism (6), Turner Syndrome (1,230).
  4. Clinical Trials ClinicalTrials.gov : at least 73 including 3 Active, 45 Completed, 9 Recruiting


  

        

                    


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  1. Quint, Elisabeth H   Obstetrics & Gynecology  Google Publications
    Department of Obstetrics and Gynecology, University of Michigan, Ann Arbor, Michigan.
    Physician 
    Disclosed payments from biomedical company (Myovant Sciences Inc.) in 2021 for $23.04
    Subjects: Disorder of Sex Development, 46,XY; Disorders of Sex Development; Gonads; MAP Kinase Kinase Kinase 1; Magnetic Resonance Imaging
    Categories: Genetics; Diagnostic Imaging; Methods
    MAP3K1-related gonadal dysgenesis: Six new cases and review of the literature. (2017)
    Utility of Ultrasound and Magnetic Resonance Imaging in Patients with Disorders of Sex Development Who Undergo Prophylactic Gonadectomy. (2016)

  2. Ostrer, Harry   Molecular Genetic Pathology  Google Publications
    Departments of Pathology and Pediatrics, Albert Einstein College of Medicine, Bronx, New York. Top Hospital
    Physician 
    Subjects: MAP Kinase Kinase Kinase 1; Disorder of Sex Development, 46,XY; Genetic Association Studies; Genetic Testing; Genetic Variation
    Categories: Genetics; Methods
    MAP3K1-related gonadal dysgenesis: Six new cases and review of the literature. (2017)
    Rapidly screening variants of uncertain significance in the MAP3K1 gene for phenotypic effects. (2012)

  3. Thorp, Michael W   Critical Care Medicine  Google Publications
    Department of Genetics, Cell Biology, and Development, University of Minnesota, St. Paul, Minnesota 55108-1095. Top Hospital
    Physician 
    Medicare MIPS (Merit-based Incentive Payment System) rating: 82/100
    Subjects: RNA, Small Interfering; DNA Transposable Elements; Drosophila; Drosophila melanogaster; Hybridization, Genetic
    Categories: Genetics; Metabolism
    Transposon regulation in Drosophila: piRNA-producing P elements facilitate repression of hybrid dysgenesis by a P element that encodes a repressor polypeptide. (2015)
    Genetic interactions between P elements involved in piRNA-mediated repression of hybrid dysgenesis in Drosophila melanogaster. (2014)

  4. Simmons, Michael J   Otolaryngology   Google Publications
    Department of Genetics, Cell Biology, and Development, University of Minnesota, St. Paul, Minnesota 55108-1095 . Top Hospital
    Physician  Highly Published 
    Medicare MIPS (Merit-based Incentive Payment System) rating: 100/100
    Subjects: RNA, Small Interfering; DNA Transposable Elements; Drosophila melanogaster; Drosophila; Hybridization, Genetic
    Categories: Genetics; Metabolism
    Transposon regulation in Drosophila: piRNA-producing P elements facilitate repression of hybrid dysgenesis by a P element that encodes a repressor polypeptide. (2015)
    Genetic interactions between P elements involved in piRNA-mediated repression of hybrid dysgenesis in Drosophila melanogaster. (2014)

  5. Weinberg-Shukron, Ariella  Google Publications
    Scientist  Case Reports 
    Subjects: BRCA2 Protein; DNA Repair; Genes, BRCA2; Ovary
    Categories: Deficiency; Genetics; Growth & Development
    Essential Role of BRCA2 in Ovarian Development and Function. (2018)

  6. Zangen, David   Google Publications
    Division of Pediatric Endocrinology, Hadassah Hebrew University Medical School, Jerusalem, Israel.
    Scientist  Case Reports 
    Subjects: BRCA2 Protein; Chromosomes, Human, X; DNA Repair; Estrogens; Genes, BRCA2
    Categories: Genetics; Deficiency; Growth & Development; Metabolism
    Essential Role of BRCA2 in Ovarian Development and Function. (2018)
    XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription. (2011)

  7. King, Mary-Claire  Google Publications
    Scientist  Case Reports 
    Subjects: Ovary; 17-Hydroxysteroid Dehydrogenases; Ataxia; BRCA2 Protein; DNA Repair
    Categories: Genetics; Complications; Abnormalities; Deficiency; Enzymology; Growth & Development
    Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. (2010)
    Essential Role of BRCA2 in Ovarian Development and Function. (2018)

  8. Levy-Lahad, Ephrat  Google Publications
    Scientist  Highly Published  Case Reports 
    Subjects: Ovary; 17-Hydroxysteroid Dehydrogenases; Ataxia; BRCA2 Protein; Chromosomes, Human, X
    Categories: Genetics; Complications; Abnormalities; Deficiency; Enzymology; Growth & Development
    Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. (2010)
    Essential Role of BRCA2 in Ovarian Development and Function. (2018)

  9. Sharpe, Richard M   Google Publications
    MRC Centre for Reproductive Health, The Queens Medical Research Institute, University of Edinburgh, 47 Little France Crescent, Edinburgh EH16 4TJ, U.K.
    Scientist  Highly Cited  Highly Published 
    Subjects: Testicular Diseases; Androgens; Testis; Anal Canal; Dibutyl Phthalate
    Categories: Chemically Induced; Anatomy & Histology; Pathology; Physiopathology; Drug Effects; Embryology
    Clinical review: Anogenital distance or digit length ratio as measures of fetal androgen exposure: relationship to male reproductive development and its disorders. (2013)
    Androgens and the masculinization programming window: human-rodent differences. (2020)

  10. Nielsen, John E   Family Medicine  Google Publications
    Physician 
    Disclosed payments in 2021 from 6 biomedical companies, totalling $81.38, including $58.12 from  PFIZER INC.
    Subjects: Bone Morphogenetic Protein 7; Mutation; Neoplasms, Germ Cell and Embryonal; Proteoglycans; Receptors, Androgen
    Categories: Genetics
    A genome-wide association study of men with symptoms of testicular dysgenesis syndrome and its network biology interpretation. (2012)
    Identification of a novel androgen receptor mutation in a family with multiple components compatible with the testicular dysgenesis syndrome. (2013)

  11. Alaniz, Veronica I   Obstetrics & Gynecology   Google Publications
    Department of Obstetrics and Gynecology, University of Michigan, Ann Arbor, Michigan.
    Physician 
    Subjects: Disorder of Sex Development, 46,XY; Disorders of Sex Development; Gonads; MAP Kinase Kinase Kinase 1; Magnetic Resonance Imaging
    Categories: Genetics; Diagnostic Imaging; Methods
    MAP3K1-related gonadal dysgenesis: Six new cases and review of the literature. (2017)
    Utility of Ultrasound and Magnetic Resonance Imaging in Patients with Disorders of Sex Development Who Undergo Prophylactic Gonadectomy. (2016)

  12. Becker, Jordan R   Emergency Medicine  Google Publications
    Department of Genetics, Cell Biology, and Development, University of Minnesota, St. Paul, Minnesota 55108-1095. Top Hospital
    Physician 
    Subjects: RNA, Small Interfering; DNA Transposable Elements; Drosophila; Drosophila melanogaster; Hybridization, Genetic
    Categories: Genetics; Metabolism
    Transposon regulation in Drosophila: piRNA-producing P elements facilitate repression of hybrid dysgenesis by a P element that encodes a repressor polypeptide. (2015)
    Genetic interactions between P elements involved in piRNA-mediated repression of hybrid dysgenesis in Drosophila melanogaster. (2014)

  13. Pierce, Sarah B   Psychiatry  Google Publications
    Department of Medicine, University of Washington, Seattle, WA 98195, USA. Top Hospital
    Physician 
    Subjects: 17-Hydroxysteroid Dehydrogenases; Ataxia; Hearing Loss; Hydro-Lyases; Mutation
    Categories: Complications; Genetics; Abnormalities; Enzymology
    Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. (2010)

  14. Achermann, John C   Google Publications
    Genetics and Genomic Medicine, UCL Great Ormond Street Institute for Child Health, 30 Guilford Street, London, WC1N 1EH, UK. .
    Scientist 
    Subjects: Disorders of Sex Development; High-Throughput Nucleotide Sequencing; Sex Determination Processes
    Categories: Genetics
    Human sex development: targeted technologies to improve diagnosis. (2016)

  15. Buonocore, Federica  Google Publications
    Genetics and Genomic Medicine, UCL Great Ormond Street Institute for Child Health, 30 Guilford Street, London, WC1N 1EH, UK.
    Scientist 
    Subjects: Disorders of Sex Development; High-Throughput Nucleotide Sequencing; Sex Determination Processes
    Categories: Genetics
    Human sex development: targeted technologies to improve diagnosis. (2016)

  16. Granados, Andrea   Pediatric Endocrinology  Google Publications
    Department of Pediatrics, Division of Endocrinology, University of Michigan, Ann Arbor, Michigan.
    Physician 
    Medicare MIPS (Merit-based Incentive Payment System) rating: 84/100
    Disclosed payments in 2021 from 21 biomedical companies, totalling $524.61, including $145.47 from  Ultragenyx Pharmaceutical Inc.
    Subjects: Disorder of Sex Development, 46,XY; MAP Kinase Kinase Kinase 1; Sex Differentiation
    Categories: Genetics
    MAP3K1-related gonadal dysgenesis: Six new cases and review of the literature. (2017)

  17. Skakkebaek, Niels E   Google Publications
    Department of Growth & Reproduction, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.
    Scientist  Highly Cited  Highly Published 
    Subjects: Testicular Diseases; Hypospadias; Testis; Cryptorchidism; Endocrine Disruptors
    Categories: Pathology; Chemically Induced; Blood; Genetics; Abnormalities; Toxicity
    Cryptorchidism and hypospadias as a sign of testicular dysgenesis syndrome (TDS): environmental connection. (2010)
    Experimentally induced testicular dysgenesis syndrome originates in the masculinization programming window. (2017)

  18. Toppari, Jorma     Google Publications
    Research Centre for Integrative Physiology and Pharmacology, Institute of Biomedicine, University of Turku, Turku, Finland.
    Physician  Highly Cited  Highly Published 
    Subjects: Cryptorchidism; Endocrine Disruptors; Hypospadias; Testicular Neoplasms; Bone Morphogenetic Protein 7
    Categories: Genetics; Pathology; Chemically Induced; Abnormalities; Adverse Effects; Toxicity
    Cryptorchidism and hypospadias as a sign of testicular dysgenesis syndrome (TDS): environmental connection. (2010)
    A genome-wide association study of men with symptoms of testicular dysgenesis syndrome and its network biology interpretation. (2012)

  19. Egler, Rachel A   Pediatric Hematology-Oncology  Google Publications
    Rainbow Babies and Childrens Hospital, Cleveland, Ohio.
    Physician  Clinical Trial 
    Medical school: Albany Medical College of Union University (MD, 1999)
    Medicare Accepted; Medicare MIPS (Merit-based Incentive Payment System) rating: 88/100
    Disclosed payments in 2021 from 7 biomedical companies, totalling $100.27, including $14.95 from  CSL Behring
    Subjects: Neoplasms, Germ Cell and Embryonal; Ovarian Neoplasms
    Categories: Mortality
    Gonadal dysgenesis is associated with worse outcomes in patients with ovarian nondysgerminomatous tumors: A report of the Children's Oncology Group AGCT 0132 study. (2018)

  20. James, William H   Family Medicine  Google Publications
    Physician 
    Disclosed payments in 2021 from 6 biomedical companies, totalling $94.89, including $50.17 from  Novo Nordisk Inc
    Categories: Etiology
    Further grounds for abandoning the concept of testicular dysgenesis syndrome: a response to the paper of Akre and Richiardi (2009). (2010)

Note:
  1. These experts have limited publications on this topic in our database, so expertise assessment may not be accurate.
  2. Only the top 20 experts are shown. You may filter your results or use the geolocation tabs. Contact us to purchase the entire list.
These expert listings are for individual use without a fee. Biotechs, Pharmaceuticals, Recruiters, Consultants, Investors, Law firms, and other organizations may use this only for quick evaluations (no downloads or screen scraping) to identify the top medical experts for recruiting, advisory panels, boards, and consulting. Please contact us for licensing, customized queries, feedback and questions.

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