ReviewNature reviews. Endocrinology2014
Malformation syndromes associated with disorders of sex development.
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 30 papers.
What it found
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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.
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Who cites it
30 citing papers in PubMed.
- Persistent Müllerian duct syndrome - a rare but important cause of male factor infertility.Nature reviews. Urology · 2026Review
- Sex Assignment in Cases of Ambiguous Genitalia.Cureus · 2024Review
- Reprograming skin fibroblasts into Sertoli cells: a patient-specific tool to understand effects of genetic variants on gonadal development.Biology of sex differences · 2024Article
- Support for affirmative actions to increase inclusivity of intersex* persons at an Austrian medical university.BMC medical education · 2023Article
- Two novel AMHR2 gene variants in monozygotic twins with persistent Müllerian duct syndrome: A case report and functional study.Molecular genetics & genomic medicine · 2022Article
- Diagnosis of DSD in Children-Development of New Tools for a Structured Diagnostic and Information Management Program within the Empower-DSD Study.Journal of clinical medicine · 2022Article
- Characterization of Associated Nonclassical Phenotypes in Patients with Deletion in the WAGR Region Identified by Chromosomal Microarray: New Insights and Literature Review.Molecular syndromology · 2022Article
- Identification ofGenes · 2022Article
- The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD): III) Biochemical and genetic markers in the 46,XYIV) Proposals for the differential diagnosis of DSD.Advances in laboratory medicine · 2021Review
- El laboratorio en el diagnóstico multidisciplinar del desarrollo sexual anómalo o diferente (DSD): III) Marcadores bioquímicos y genéticos en los 46,XY IV) Propuestas para el diagnóstico diferencial de los DSD.Advances in laboratory medicine · 2021Review
- Single cell transcriptomic analysis of external genitalia reveals complex and sexually dimorphic cell populations in the early genital tubercle.Developmental biology · 2021Article
- Towards improved genetic diagnosis of human differences of sex development.Nature reviews. Genetics · 2021Review
- Identification of four novel variant in the AMHR2 gene in six unrelated Turkish families.Journal of endocrinological investigation · 2021Article
- Disorders of Sexual Development: Current Status and Progress in the Diagnostic Approach.Current urology · 2020Review
- Detailed clinical manifestations at onset and prognosis of neonatal-onset Denys-Drash syndrome and congenital nephrotic syndrome of the Finnish type.Clinical and experimental nephrology · 2019Article
- Translating genomics to the clinical diagnosis of disorders/differences of sex development.Current topics in developmental biology · 2019Review
- A Novel Mutation ofJournal of clinical research in pediatric endocrinology · 2018Article
- GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘DSDnet’European journal of endocrinology · 2018Review
- Disorders of sex development: timing of diagnosis and management in a single large tertiary center.Endocrine connections · 2018Article
- Quality of Life in Late-Treated Patients With Disorders of Sex Development: Insights for Patient-Centered Care.Frontiers in pediatrics · 2018Article
Corrections and comments
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
When embryological development of the internal and/or external genitalia is disrupted, the patient presents with a disorder of sex development (DSD) in the neonatal period or sometime later in life. Some of these patients have other, nongenital malformations, which makes their overall management more complex than if they just had a DSD. This Review summarises these malformation syndromes and discusses the recent research into their aetiology. The genetic causes of these malformation syndromes, when they are known, will also be described. Many specific genetic mutations are now known in malformation syndromes with a defect in hormonal function. By contrast, the genetic causes remain unknown in many nonhormonal morphological anomalies that affect the genitalia.
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