Evidence map›Paper›PMID 40744924›Full record

ReviewNature reviews. Disease primers2025

Differences of sex development.

Syed Faisal Ahmed, Kate Armstrong, Earl Y Cheng, Martine Cools, Vincent Harley, Berenice B Mendonca, Anna Nordenström, Rodolfo Rey, David E Sandberg, Agustini Utari and 1 more

Abstract readReview
PubMed Publisher
In one paragraph

Review in Nature reviews. Disease primers, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed, 1 pooled it
–field-weighted citation impact
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

13 citing papers in PubMed, 1 synthesis or guideline pooled it.

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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

11 authors.

Syed Faisal AhmedChild Health, School of Medicine, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, UK.ORCID http://orcid.org/0000-0003-0689-5549
Kate ArmstrongCaring & Living as Neighbours (CLAN), Denistone, New South Wales, Australia.
Earl Y ChengDivision of Urology, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.
Martine CoolsDepartment of Internal Medicine and Paediatrics, Ghent University, Ghent, Belgium.ORCID http://orcid.org/0000-0002-9552-4899
Vincent HarleyCentre for Endocrinology and Metabolism, Hudson Institute of Medical Research, Melbourne, Victoria, Australia.
Berenice B MendoncaDepartment of Internal Medicine, LIM/42, Discipline of Endocrinology, University of São Paulo Medical School, University of São Paulo, São Paulo, Brazil.ORCID http://orcid.org/0000-0003-1762-1084
Anna NordenströmDepartment of Women's and Children's Health, Karolinska University Hospital, Stockholm, Sweden.ORCID http://orcid.org/0000-0003-0405-3401
Rodolfo ReyCentro de Investigaciones Endocrinológicas "Dr. César Bergadá" (CEDIE) CONICET - FEI - División de Endocrinología, Hospital de Niños R. Gutiérrez, Buenos Aires, Argentina.ORCID http://orcid.org/0000-0002-1100-3843
David E SandbergSusan B. Meister Child Health and Evaluation Research Center and the Division of Paediatric Psychology, Department of Paediatrics, University of Michigan Medical School, Ann Arbor, MI, USA.ORCID http://orcid.org/0000-0002-7389-8283
Agustini UtariDivision of Paediatric Endocrinology, Department of Paediatrics, Faculty of Medicine, Diponegoro University, Semarang, Indonesia.
Christa E FlückPaediatric Endocrinology, Diabetology and Metabolism, Department of Paediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland. christa.flueck@unibe.ch.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Differences of sex development (DSD) represent a group of congenital conditions that affect human sex development and maturation owing to discrepancies of chromosomal, gonadal and phenotypic sex. The Chicago consensus classifies DSD as sex chromosome DSD, 46,XY DSD and 46,XX DSD, with subclassifications according to gonadal determination into testes and ovaries and hormone-dependent differentiation of Müllerian and Wolffian embryonic structures into female-typical or male-typical internal and external sex organs. DSD may occur as an isolated condition or as part of a complex syndrome. Diagnosis is based on clinical characteristics, imaging studies, hormonal measurements and genetic investigations. Management includes lifelong psychosocial support, hormonal treatments and surgical interventions that require personalization for each case as DSD encompasses a wide variety of aetiologies and presentations. This personalization must also consider individual values and preferences to ensure that clinical care is tailored to meet the unique needs and circumstances of each person, ideally provided by a care team with diverse specialities. This care involves psycho-educational counselling on the condition and its consequences, considering family and cultural norms. Additional efforts are needed to bridge gaps in knowledge related to diagnosis, management and long-term outcomes. Enhancing our understanding of the distinctions between sex and gender in societies is essential as greater awareness will inform and enrich public debates.

Indexed as

Disorders of Sex DevelopmentSexual DevelopmentFemaleHumansMale

Identifiers

What OpenQuestion holds

Textmetadata
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.