Evidence map›Paper›PMID 24302751›Full record

ArticleThe Journal of clinical endocrinology and metabolism2014

Novel associations in disorders of sex development: findings from the I-DSD Registry.

Kathryn Cox, Jillian Bryce, Jipu Jiang, Martina Rodie, Richard Sinnott, Mona Alkhawari, Wiebke Arlt, Laura Audi, Antonio Balsamo, Silvano Bertelloni and 14 more

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in The Journal of clinical endocrinology and metabolism, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
46citing papers in PubMed, 1 pooled it
4.5field-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

46 citing papers in PubMed, 1 synthesis or guideline pooled it, 153 citations in OpenAlex.

  1. Guideline
  2. Article
  3. Article
  4. Article
  5. Article
  6. Differences of sex development.Nature reviews. Disease primers · 2025
    Review
  7. Article
  8. Review
  9. Review
  10. Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Mutations inJournal of clinical research in pediatric endocrinology · 2022
    Article
  17. Article
  18. Article
  19. Review
  20. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

24 authors at 19 institutions in 13 countries.

Kathryn CoxUniversity of Glasgow (K.C., J.B., J.J., M.R., R.S., S.F.A.), Child Health, School of Medicine, Royal Hospital for Sick Children, Yorkhill, and National eScience Centre, Glasgow G3 8SJ, United Kingdom; University of Melbourne (R.S.), eResearch, Melbourne, Parkville VIC 3010, Australia; Al-Amiri Hospital (M.A.), Paediatric Department, MOH, Safat 13015, Kuwait; University of Birmingham (W.A., N.K.), Centre for Endocrinology, Diabetes and Metabolism, School of Clinical & Experimental Medicine, Birmingham B15 2TT, United Kingdom; Vall d'Hebron Research Institute (L.A.) and CIBERER, Barcelona, 08035 Spain; University of Bologna (A.B.), Department of Gynecologic, Obstetric and Pediatric Sciences, Operative Unit Pediatrics, 40138, Bologna, Italy; University Hospital Pisa (S.B.), Servizio di Medicina dell'Adolescenza - UO Pediatria, Azienda Ospedaliero Universitaria Pisana, 56126 Pisa, Italy; University Hospital Ghent & University of Ghent (M.C.), Department of Pediatric and Adolescent Endocrinology and Diabetology, 185-9000 Gent, Belgium; Istanbul University (F.D.), Istanbul Faculty of Medicine, Department of Pediatrics, Pediatric Endocrinology Unit, 34452 İstanbul, Turkey; Sophia Children's Hospital/Erasmus MC (S.D.), Division of Pediatric Endocrinology, Department of Pediatrics, Rotterdam, The Netherlands; Al-Neelain Medical Research Centre (M.E.), Faculty of Medicine and Health Sciences, Al-Neelain University and Biotechnology Lab, Ahfad University for Women, 00249 Khartoum, Sudan; Marmara University Hospital (T.G.), Istanbul, Pediatric Endocrinology and Diabetes, Fevzi Cakmak Mh. 34899 Ustkaynarca/Pendik-Istanbul-Turkey; University of Lübeck (O.H.), Division of Experimental Paediatric Endocrinology and Diabetes, Department of Paediatrics and Adolescent Medicine, 23560 Lübeck, Germany; University Hospital of Schleswig Holstein (P.-M. H.), Department of General Pediatrics, University of Kiel, 24105 Kiel, Germany; University of Cambridge (I.H.), Department of Paediatri
Jillian Bryce
Jipu Jiang
Martina Rodie
Richard Sinnott
Mona Alkhawari
Wiebke Arlt
Laura Audi
Antonio Balsamo
Silvano Bertelloni
Martine Cools
Feyza Darendeliler
Stenvert Drop
Mona Ellaithi
Tulay Guran
Olaf Hiort
Paul-Martin Holterhus
Ieuan Hughes
Nils Krone
Lidka Lisa
Yves Morel
Olle Soder
Peter Wieacker
S Faisal Ahmed
Royal Hospital for Sick Children · GBUniversity of Birmingham · GBUniversity of Glasgow · GBAddenbrooke's Hospital · GBAl-Neelain University · SDAmiri Hospital · KWAzienda Ospedaliera Universitaria Pisana · ITCentre for Biomedical Network Research on Rare Diseases · ESErasmus MC - Sophia Children’s Hospital · NLGhent University Hospital · BEHospices Civils de Lyon · FRInstitute of Endocrinology · CZIstanbul University · TRKarolinska University Hospital · SEMarmara University · TRRoyal Hospital for Children · GBUniversity Hospital Münster · DEUniversity of Bologna · ITUniversity of Lübeck · DE

Funding

Medical Research Council G0900567Medical Research Council G1100236
6 · The paper itself

Abstract

contextThe focus of care in disorders of sex development (DSD) is often directed to issues related to sex and gender development. In addition, the molecular etiology remains unclear in the majority of cases.

objectiveTo report the range of associated conditions identified in the international DSD (I-DSD) Registry. DESIGN, SETTING, AND PATIENTS: Anonymized data were extracted from the I-DSD Registry for diagnosis, karyotype, sex of rearing, genetic investigations, and associated anomalies. If necessary, clarification was sought from the reporting clinician.

resultsOf 649 accessible cases, associated conditions occurred in 168 (26%); 103 (61%) cases had one condition, 31 (18%) had two conditions, 20 (12%) had three conditions, and 14 (8%) had four or more conditions. Karyotypes with most frequently reported associations included 45,X with 6 of 8 affected cases (75%), 45,X/46,XY with 19 of 42 cases (45%), 46,XY with 112 of 460 cases (24%), and 46,XX with 27 of 121 cases (22%). In the 112 cases of 46,XY DSD, the commonest conditions included small for gestational age in 26 (23%), cardiac anomalies in 22 (20%), and central nervous system disorders in 22 (20%), whereas in the 27 cases of 46,XX DSD, skeletal and renal anomalies were commonest at 12 (44%) and 8 (30%), respectively. Of 170 cases of suspected androgen insensitivity syndrome, 19 (11%) had reported anomalies and 9 of these had confirmed androgen receptor mutations.

conclusionsOver a quarter of the cases in the I-DSD Registry have an additional condition. These associations can direct investigators toward novel genetic etiology and also highlight the need for more holistic care of the affected person.

Indexed as

Disorders of Sex DevelopmentFemaleHumansKaryotypeMaleMutationRegistries

Identifiers

PMID24302751
PMCPMC3955252
OpenAlexW2108564113

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.