AI + RAG · Fuentes documentales curadas · Curated documentary sources

Evaluador clínico-documental basado en IA para DSD y anomalías urogenitales complejas

AI-based clinical-documentary evaluator for DSD and complex urogenital anomalies

Herramienta profesional de apoyo documental para especialistas. Permite organizar la evaluación inicial ante una sospecha de DSD o un hallazgo anatómico, valorar el seguimiento de una condición ya diagnosticada y responder preguntas documentales mediante un conjunto cerrado de 47 fuentes seleccionadas y curadas.

Professional documentary-support tool for specialists. It supports initial assessment of suspected DSD or anatomical findings, follow-up of an already diagnosed condition and documentary queries using a closed set of 47 selected and curated sources.

Sobre esta herramienta

Este evaluador clínico-documental asiste a cirujanos pediátricos, urólogos pediátricos, endocrinólogos pediátricos, ginecólogos, genetistas y otros profesionales de equipos multidisciplinares en tres escenarios: sospecha o hallazgo sin diagnóstico confirmado, seguimiento de una condición diagnosticada y consulta documental.

Está diseñado para preguntas sobre evaluación clínica y bioquímica, genética, imagen y anatomía, genitales atípicos, anomalías müllerianas, seno urogenital, cloaca, cirugía, manejo gonadal, riesgo tumoral, fertilidad, función, sexualidad, calidad de vida y transición.

Interactividad y control de fuentes: el especialista selecciona el escenario, aporta únicamente la información pertinente y formula una pregunta concreta. Si la evidencia documental es insuficiente o no permite una inferencia individual, el sistema debe indicarlo expresamente.

About this tool

This clinical-documentary evaluator assists paediatric surgeons, paediatric urologists, paediatric endocrinologists, gynaecologists, geneticists and other multidisciplinary team professionals in three scenarios: suspected DSD or anatomical findings without a confirmed diagnosis, follow-up of a diagnosed condition and documentary queries.

It addresses questions about clinical and biochemical assessment, genetics, imaging and anatomy, atypical genitalia, Müllerian anomalies, urogenital sinus, cloaca, surgery, gonadal management, tumour risk, fertility, function, sexuality, quality of life and transition.

Interactivity and source control: the specialist selects the scenario, provides only relevant information and asks a focused question. If the documentary evidence is insufficient or does not support an individual inference, the system should state this explicitly.

Aviso médico-legal / Medical and legal disclaimer

Esta herramienta tiene finalidad académica y de apoyo documental para profesionales sanitarios. No ha sido validada como dispositivo médico, no constituye una calculadora diagnóstica o predictiva autónoma y no sustituye la evaluación multidisciplinar, la toma de decisiones compartida ni la responsabilidad del especialista a cargo del paciente.

Las respuestas deben interpretarse de forma crítica y verificarse con las fuentes originales cuando sea necesario. No deben introducirse nombres, fechas de nacimiento, números de historia clínica ni otros datos identificables.

This tool is intended for academic and documentary support for healthcare professionals. It has not been validated as a medical device, is not an autonomous diagnostic or predictive calculator and does not replace multidisciplinary assessment, shared decision-making or clinician responsibility. Generated answers should be critically interpreted and verified against the original sources when necessary. Names, dates of birth, record numbers and other identifiers must not be entered.

Evaluador clínico-documental DSD

DSD clinical-documentary evaluator

Versión interna: DSD-2026-07-30-v0.5
Seleccione primero el escenario. El formulario mostrará únicamente los campos relevantes.
Select the scenario first. Only relevant fields will be shown.
Datos generales / General data
No equivale a cariotipo, diagnóstico ni identidad de género.
Evaluación inicial / Initial evaluation
Condición diagnosticada / Diagnosed condition
Consulta documental / Documentary query
Pregunta del especialista / Specialist question
Máximo 1.500 caracteres. No incluya datos identificables. / Maximum 1,500 characters. Do not include identifiers.
Formule una pregunta concreta. Máximo 2.000 caracteres. / Ask a focused question. Maximum 2,000 characters.
Consultas completadas: 6

Diseño, fuentes y seguridad documental

Design, sources and documentary safety

Este evaluador utiliza un sistema de recuperación aumentada por generación (RAG), diseñado para responder exclusivamente a partir de un conjunto cerrado de 47 fuentes clínicas y documentales seleccionadas. Los documentos originales han sido revisados y convertidos en archivos estructurados optimizados para recuperación documental, con especial atención a tablas, algoritmos, recomendaciones, resultados por subgrupos y limitaciones metodológicas.

This evaluator uses a retrieval-augmented generation (RAG) approach and is designed to answer exclusively from a closed set of 47 selected clinical and documentary sources. The original documents were reviewed and converted into structured files optimised for documentary retrieval, with particular attention to tables, algorithms, recommendations, subgroup results and methodological limitations.

Áreas documentales principales / Main documentary domains

  • Guías y consensos / Guidelines and consensus statements: EAU/ESPU 2026, consenso europeo de Cools et al., consenso de Chicago y actualización global, guía española SEEP y guía internacional de síndrome de Turner.
  • Evaluación diagnóstica / Diagnostic assessment: exploración clínica, bioquímica, mini-pubertad, imagen neonatal, citogenética, paneles genéticos, exoma, CNV y estrategias integradas de diagnóstico.
  • Atención longitudinal / Long-term care: modelos multidisciplinares, comunicación, calidad de vida, sexualidad, apoyo psicosocial y transición a la atención adulta.
  • Cirugía, gónadas y fertilidad / Surgery, gonads and fertility: resultados de genitoplastia, función y sensibilidad, preservación de fertilidad, riesgo de tumor germinal, vigilancia y gonadectomía.
Ver el listado completo de las 47 fuentes / View the full list of 47 sources
  1. EAU Guidelines on Paediatric Urology 2026, Chapter 20: Disorders/Differences of Sex Development.
  2. Cools M et al. (2018). Caring for individuals with a difference of sex development (DSD): a Consensus Statement.
  3. Hughes IA et al. (2006). Consensus statement on management of intersex disorders.
  4. Lee PA et al. (2016). Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care.
  5. Guerrero-Fernández J et al. (SEEP, 2018). Guía de actuación en las Anomalías de la Diferenciación Sexual (ADS) / Desarrollo Sexual Diferente (DSD).
  6. Elicit evidence map (2026). Evaluación diagnóstica inicial del recién nacido, lactante y niño con sospecha de DSD. Fuente secundaria de apoyo bibliográfico, no normativa.
  7. Grinspon RP, Castro S, Rey RA (2023). Up-to-Date Clinical and Biochemical Workup of the Child and the Adolescent with a Suspected Disorder of Sex Development.
  8. O'Connell MA et al. (2023). Establishing a Molecular Genetic Diagnosis in Children with Differences of Sex Development: A Clinical Approach.
  9. van der Straaten S et al. (2020). The External Genitalia Score (EGS): A European Multicenter Validation Study.
  10. Avni FE et al. (2019). Plea for a Standardized Imaging Approach to Disorders of Sex Development in Neonates: Consensus Proposal from the European Society of Paediatric Radiology Task Force.
  11. Eggers S et al. (2016). Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.
  12. Baxter RM et al. (2015). Exome Sequencing for the Diagnosis of 46,XY Disorders of Sex Development.
  13. Hughes LA et al. (2019). Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD).
  14. Kolesinska Z et al. (2018). Integrating clinical and genetic approaches in the diagnosis of 46,XY disorders of sex development.
  15. Baetens D et al. (2014). Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual development.
  16. Nixon R et al. (2017). Prevalence of endocrine and genetic abnormalities in boys evaluated systematically for a disorder of sex development.
  17. Délot EC et al. (2017). Genetics of Disorders of Sex Development: The DSD-TRN Experience.
  18. Tannour-Louet M et al. (2010). Identification of De Novo Copy Number Variants Associated with Human Disorders of Sexual Development.
  19. Johannsen TH et al. (2018). Sex Differences in Reproductive Hormones During Mini-Puberty in Infants With Normal and Disordered Sex Development.
  20. Granada ML, Audí L (2021). The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD), integrated series I-IV.
  21. Speiser PW et al. (2010). Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline.
  22. Man E et al. (2023). A Single-Center, Observational Study of 607 Children and Young People Presenting With Differences of Sex Development (DSD).
  23. van Zoest M et al. (2019). Sex Assignment and Diagnostics in Infants with Ambiguous Genitalia: A Single-Center Retrospective Study.
  24. Shamma RA et al. (2021). Aetiological classification and clinical spectrum of Egyptian paediatric patients with disorders of sex development.
  25. Erdoğan S et al. (2011). Etiological Classification and Clinical Assessment of Children and Adolescents with Disorders of Sex Development.
  26. Gomes NLRA et al. (2022). Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development.
  27. Miclea D et al. (2021). Molecular and Cytogenetic Analysis of Romanian Patients with Differences in Sex Development.
  28. Cox K et al. (2014). Novel Associations in Disorders of Sex Development: Findings From the I-DSD Registry.
  29. Kyriakou A et al. (2016). Current Models of Care for Disorders of Sex Development: Results From an International Survey of Specialist Centres.
  30. Goodman M et al. (2022). Cohort Profile: Pathways to Care Among People With Disorders of Sex Development (DSD).
  31. Nowotny HF, Reisch N (2023). Challenges Waiting for an Adult with DSD.
  32. Rapp M et al. (2018). Multicentre Cross-Sectional Clinical Evaluation Study About Quality of Life in Adults with Disorders/Differences of Sex Development (dsd-LIFE).
  33. Kreukels BPC et al. (2019). Sexuality in Adults with Differences/Disorders of Sex Development: Findings from the dsd-LIFE Study.
  34. Chulani VL et al. (2019). Healthcare Transition for Patients with Differences of Sexual Development and Complex Urogenital Conditions.
  35. Skott M et al. (2026). Summary of the EAU/ESPU Guidelines on Transition in Urology.
  36. Preston M et al. (2024). Surgical timing and complications, with body image, quality of life, sexual function and genital sensation in patients with congenital adrenal hyperplasia.
  37. Bag MJ et al. (2025). Long-term Outcomes of Feminizing Genitoplasty in DSD: Genital Morphology, Sensitivity, Sexual Function, and Satisfaction.
  38. Carre Lecoindre M et al. (2025). Fertility in differences of sex development patients.
  39. Kalra R et al. (2019). Female fertility preservation in DSD.
  40. Johnson EK et al. (2019). Gonadal Tissue Cryopreservation for Children with Differences of Sex Development.
  41. Pyle LC, Nathanson KL (2017). A practical guide for evaluating gonadal germ cell tumor predisposition in differences of sex development.
  42. Morin J et al. (2020). Gonadal malignancy in patients with differences of sex development.
  43. Słowikowska-Hilczer J et al. (2020). Risk of gonadal neoplasia in patients with disorders/differences of sex development.
  44. Gravholt CH et al. (2024). Clinical practice guidelines for the care of girls and women with Turner syndrome.
  45. Cools M (2023). Gonadectomy in DSD.
  46. Barros BA et al. (2021). Complete androgen insensitivity syndrome and risk of gonadal malignancy: systematic review.
  47. Ljubicic ML et al. (2019). Clinical but Not Histological Outcomes in Males With 45,X/46,XY Mosaicism Vary Depending on Reason for Diagnosis.

Español: Las fuentes se interpretan de forma jerarquizada. Las guías clínicas vigentes y los consensos contemporáneos tienen prioridad para recomendaciones asistenciales; los estudios originales y revisiones se utilizan para fundamentar asociaciones, resultados y limitaciones. Las cohortes retrospectivas, series quirúrgicas y documentos históricos no se emplean aisladamente para justificar decisiones irreversibles ni para atribuir un riesgo individual.

English: Sources are interpreted hierarchically. Current clinical guidelines and contemporary consensus statements take priority for care recommendations; original studies and reviews support associations, outcomes and limitations. Retrospective cohorts, surgical series and historical documents are not used alone to justify irreversible decisions or assign individual risk.

Nota metodológica: el sistema no está diseñado para generar recomendaciones a partir de conocimiento externo no controlado. Si la respuesta no puede fundamentarse en las fuentes disponibles, debe indicarlo expresamente. La ausencia de un dato en el formulario no se interpreta como un resultado negativo.

Methodological note: the system is not designed to generate recommendations from uncontrolled external knowledge. If an answer cannot be supported by the available sources, it must state this explicitly. Missing form data are not interpreted as negative findings.

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