Evidence map›Paper›PMID 25091731›Full record

ReviewNature reviews. Endocrinology2014

DSDs: genetics, underlying pathologies and psychosexual differentiation.

Valerie A Arboleda, David E Sandberg, Eric Vilain

Open access · greenAbstract readReview
In one paragraph

Review in Nature reviews. Endocrinology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 62 papers.

0numbers the graph read from it
0cells of the map it votes in
62citing papers in PubMed
4.4field-weighted citation impact, top 5% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

62 citing papers in PubMed, 157 citations in OpenAlex.

  1. Trial
  2. Review
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  9. Review
  10. A case of complete androgen insensitivity syndrome combined with bilateral inguinal hernia.Hernia : the journal of hernias and abdominal wall surgery · 2024
    Article
  11. Article
  12. Article
  13. Article
  14. Review
  15. Review
  16. Dermatologic care of patients with differences of sex development.International journal of women's dermatology · 2023
    Review
  17. Article
  18. Review
  19. Review
  20. Life (Basel, Switzerland) · 2023
    Article

2 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors at 2 institutions in 1 country.

Valerie A ArboledaDepartment of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, 695 Charles E. Young Drive South, Los Angeles, CA 90095-7088, USA.
David E SandbergDepartment of Pediatrics, Division of Child Behavioral Health and Child Health Evaluation &Research (CHEAR) Unit, University of Michigan, 300 North Ingalls Street, Ann Arbor, MI 48109-5456, USA.
Eric VilainDepartment of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, 695 Charles E. Young Drive South, Los Angeles, CA 90095-7088, USA.
University of California, Los Angeles · USUniversity of Michigan · US

Funding

Disorders of Sex Development: Platform for Basic and Translational ResearchR01HD068138 · NICHD · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI SANDBERG, DAVID ERIC, VILAIN, ERIC J. · 2011 to 2015
$4.0M
Identifying Novel Sex Determination Genes that protect from B6-YPOS Sex ReversalF31HD068136 · NICHD · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI ARBOLEDA, VALERIE A · 2011 to 2011
$33k
NICHD NIH HHS R01HD06138NICHD NIH HHS R01 HD068138
6 · The paper itself

Abstract

Mammalian sex determination is the unique process whereby a single organ, the bipotential gonad, undergoes a developmental switch that promotes its differentiation into either a testis or an ovary. Disruptions of this complex genetic process during human development can manifest as disorders of sex development (DSDs). Sex development can be divided into two distinct processes: sex determination, in which the bipotential gonads form either testes or ovaries, and sex differentiation, in which the fully formed testes or ovaries secrete local and hormonal factors to drive differentiation of internal and external genitals, as well as extragonadal tissues such as the brain. DSDs can arise from a number of genetic lesions, which manifest as a spectrum of gonadal (gonadal dysgenesis to ovotestis) and genital (mild hypospadias or clitoromegaly to ambiguous genitalia) phenotypes. The physical attributes and medical implications associated with DSDs confront families of affected newborns with decisions, such as gender of rearing or genital surgery, and additional concerns, such as uncertainty over the child's psychosexual development and personal wishes later in life. In this Review, we discuss the underlying genetics of human sex determination and focus on emerging data, genetic classification of DSDs and other considerations that surround gender development and identity in individuals with DSDs.

Indexed as

AnimalsDisorders of Sex DevelopmentFemaleGenetic VariationHumansMaleMutationSex DifferentiationSexual DevelopmentSexual Dysfunctions, Psychological

Identifiers

PMID25091731
PMCPMC4441533
OpenAlexW2024962654

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.