Concepedia

Steroidogenic Defects

Steroidogenic Defects is a pathological condition characterized by inherited or acquired disruptions in the enzymatic pathways responsible for gonadal steroid hormone biosynthesis, leading to aberrant production of steroids essential for sexual development and reproductive function.

206

Publications

12.2K

Citations

1.1K

Authors

399

Institutions

Publications per year

2017–2026

18

Variants

Steroidogenic Disorders

Parents

Publications

206

Familial Incomplete Male Pseudohermaphroditism, Type 2

Patrick C. Walsh, James D. Madden, Mary Jo Harrod et al. · New England Journal of Medicine · 1974 · 626 citations

, , +17

High Frequency of Nonclassical Steroid 21-Hydroxylase Deficiency

Phyllis Speiser, Bo Dupont, Pablo Rubinstein et al. · Obstetrical & Gynecological Survey · 1986 · 529 citations

, , +15

A<i>WNT4</i>Mutation Associated with Müllerian-Duct Regression and Virilization in a 46,XX Woman

Anna Biason‐Lauber, Daniel Konrad, Francesca Navratil et al. · New England Journal of Medicine · 2004 · 449 citations · Full text

, , +17

Testosterone Action, Deficiency, Substitution

Jacob Rajfer · The Journal of Urology · 2005 · 323 citations

, , +15

Overexpression of a DENND1A isoform produces a polycystic ovary syndrome theca phenotype

Jan M. McAllister, Bhavi P. Modi, Bruce A. Miller et al. · Proceedings of the National Academy of Sciences · 2014 · 260 citations · Full text

, , +16

1–5 of 206

Authors

1.1K

  1. CS
    Cedric Shackleton

    University of Birmingham, United Kingdom

    6 publications · 435 citations

    6

    h-index

  2. WL
    Walter L. Miller

    University of California, San Francisco, United States

    6 publications · 572 citations

    6

    h-index

  3. MI
    Maria I. New

    Cornell University, United States

    6 publications · 1K citations

    6

    h-index

  4. NT
    Norman Taylor

    King's College Hospital, United Kingdom

    6 publications · 239 citations

    6

    h-index

  5. TH
    Tomonobu Hasegawa

    Keio University, Japan

    5 publications · 390 citations

    5

    h-index

1–5 of 1.1K

Institutions

399

  1. Cornell University

    Ithaca, United States

    13 h-index

    62 publications

    5.4K citations

  2. The University of Texas Southwestern Medical Center

    Dallas, United States

    10 h-index

    45 publications

    6.6K citations

  3. University of California, San Francisco

    San Francisco, United States

    8 h-index

    21 publications

    1.6K citations

  4. University College London

    London, United Kingdom

    7 h-index

    35 publications

    3.9K citations

  5. NewYork–Presbyterian Hospital

    New York, United States

    6 h-index

    31 publications

    3.5K citations

  6. King's College London

    London, United Kingdom

    5 h-index

    5 publications

    151 citations

  7. King's College Hospital

    London, United Kingdom

    5 h-index

    7 publications

    212 citations

  8. University of Cambridge

    Cambridge, United Kingdom

    5 h-index

    10 publications

    278 citations

1–8 of 399

Venues

  1. The Journal of Clinical Endocrinology & Metabolism

    JCEM · 43 publications · 2.6K citations

    28

    h-index

  2. PubMed

    Repository · 11 publications · 327 citations

    10

    h-index

  3. Molecular Endocrinology

    8 publications · 684 citations

    8

    h-index

  4. Steroids

    7 publications · 228 citations

    7

    h-index

  5. New England Journal of Medicine

    NEJM · 7 publications · 1.7K citations

    7

    h-index

1–5