Evidence map›Paper›PMID 41208147›Full record

ReviewClinical endocrinology2026

Mixed Gonadal Dysgenesis: A Comprehensive Review of Clinical Spectrum, Diagnostic Strategies, and Management Approaches.

Dinesh Giri, Sushil Yewale, Hannah Hickingbotham, Cara Williams, Mohamed Shalaby, Julie Alderson, Julie Park

Abstract readReview
In one paragraph

Review in Clinical endocrinology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–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

3 citing papers in PubMed.

  1. Article
  2. Article
  3. Review
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

7 authors.

Dinesh GiriBristol Royal Hospital for Children, Bristol, UK.ORCID 0000-0001-8129-1978
Sushil YewaleAlder Hey Children's Hospital, Liverpool, UK.ORCID 0009-0001-2274-6255
Hannah HickingbothamCroydon University Hospital, London, UK.
Cara WilliamsAlder Hey Children's Hospital, Liverpool, UK.
Mohamed ShalabyBristol Royal Hospital for Children, Bristol, UK.ORCID 0000-0002-6161-5784
Julie AldersonBristol Royal Hospital for Children, Bristol, UK.
Julie ParkAlder Hey Children's Hospital, Liverpool, UK.ORCID 0000-0002-3545-6126

Funding

The authors received no specific funding for this work.
6 · The paper itself

Abstract

backgroundMixed gonadal dysgenesis (MGD) is a rare form of differences in sex development (DSD) typically associated with 45,X/46,XY mosaicism. The phenotypic presentation of MGD varies from atypical genitalia to typical male or female appearances often associated with Turner stigmata. Some of the challenges in the clinical management of patients with MGD include gonadal malignancy risk, decisions on gonadectomy, fertility and sex of rearing. The management is predominantly multidisciplinary with a focus on patient and family centred care.

methodsThis article was prepared as a narrative review based on a comprehensive search of the literature. A systematic search of the PubMed, Embase, Scopus, and Google Scholar databases was performed using the key terms "mixed gonadal dysgenesis," "45,X/46,XY mosaicism," "differences in sex development," and "gonadal tumour risk" to identify relevant articles published between 2000 and 2024. References from the identified papers were further screened to capture additional relevant literature. We gathered the findings to provide an updated overview of MGD, focusing on epidemiology, clinical manifestations, diagnostic evaluation, malignancy risk, approaches to management, psychosocial considerations, and evolving strategies in the long-term care of patients with MGD.

resultsMGD accounts for 5%-15% of cases of atypical genitalia and carries a 15%-25% risk of gonadal tumour, with the highest malignancy rates in intra-abdominal gonads. Approximately 12%-15% of patients with MGD may experience gender incongruence later in life. Management has shifted from early surgical intervention to a multidisciplinary, patient-centred, and shared decision making approach.

conclusionsThe future care of patients with MGD is likely to include biomarker-driven surveillance, along with advanced fertility preservation techniques. Long-term outcome data for patients with MGD along with patient-reported outcomes, are limited in the literature, underscoring the need for further research.

Indexed as

Gonadal Dysgenesis, MixedFemaleHumansMaledifferences in sex developmentgonadal tumourmixed gonadal dysgenesis

Identifiers

PMID41208147
PMCPMC12757904

What Socratic holds

Textmetadata
LicenceCC BY
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 Socratic graph.