Autor y responsable científico: Dr. Gerardo Antonio Zambudio Carmona, Jefe de Servicio de Cirugía Pediátrica, Hospital Clínico Universitario Virgen de la Arrixaca (HCUVA).

AI + RAG · 51 fuentes documentales curadas · 51 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 que parte de un hallazgo clínico o anatómico, organiza un diagnóstico diferencial provisional y propone un estudio secuencial condicionado por los resultados. También permite consultar guías, estudios y resultados dentro de un corpus cerrado de 51 fuentes curadas.

Professional documentary-support tool that starts from a clinical or anatomical finding, organises a provisional differential diagnosis and proposes a sequential work-up conditioned by the results. It also supports queries about guidelines, studies and outcomes within a closed corpus of 51 curated sources.

Sobre esta herramienta

El evaluador está dirigido a cirujanos pediátricos, urólogos pediátricos, endocrinólogos pediátricos, ginecólogos, genetistas y otros profesionales de equipos multidisciplinares. Se ha simplificado en dos modalidades: evaluar un caso clínico y consultar las fuentes.

En los casos clínicos identifica las posibilidades diagnósticas prioritarias, los datos decisivos que faltan, las urgencias que deben descartarse y las pruebas iniciales. Debe explicar para qué sirve cada prueba y cómo cambiaría su resultado el razonamiento mediante ramas «si… entonces…».

Aunque los datos sean escasos, ofrece siempre una orientación provisional útil. La falta de información limita la certeza, pero no se interpreta como un resultado negativo ni justifica una conclusión falsa.

About this tool

The evaluator is intended for paediatric surgeons, paediatric urologists, paediatric endocrinologists, gynaecologists, geneticists and other multidisciplinary professionals. It has been simplified into two modes: clinical case assessment and documentary-source queries.

For clinical cases it identifies priority diagnostic possibilities, decisive missing data, urgent conditions to exclude and initial tests. It should explain the purpose of each test and how each result changes the reasoning through explicit “if… then…” branches.

Even when information is sparse, it always provides useful provisional guidance. Missing information limits certainty but is not treated as a negative result and does not justify a false conclusion.

Aviso de privacidad y uso profesional / Privacy and professional-use notice

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 clínica, la atención multidisciplinar, la toma de decisiones compartida ni la responsabilidad del especialista a cargo del paciente.

Las respuestas deben interpretarse de forma crítica, verificarse con las fuentes originales cuando sea necesario y adaptarse al contexto clínico concreto.

No introduzca nombres, fechas de nacimiento, números de historia clínica, imágenes, documentos ni ningún otro dato que permita identificar directa o indirectamente a un paciente. Utilice exclusivamente información clínica no identificable y limite los datos a los estrictamente necesarios para formular la consulta.

Las consultas son procesadas automáticamente mediante Make y la API de OpenAI conforme a nuestra Política de privacidad.

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 clinical assessment, multidisciplinary care, shared decision-making or clinician responsibility. Generated answers should be critically interpreted, checked against the original sources when necessary and adapted to the individual clinical context.

Do not enter names, dates of birth, medical-record numbers, images, documents or any other information that could directly or indirectly identify a patient. Use only non-identifiable clinical information and limit it to what is strictly necessary for the query.

Queries are processed automatically through Make and the OpenAI API in accordance with our Privacy Policy.

Evaluador clínico-documental DSD

DSD clinical-documentary evaluator

Versión interna: DSD-2026-08-11-v0.7-protegido
Seleccione el tipo de consulta. Solo se mostrarán los campos necesarios.
Select the query type. Only the necessary fields will be shown.
Caso clínico / Clinical case
No es necesario disponer de un diagnóstico. Describa el hallazgo y las pruebas conocidas. Los datos no aportados se considerarán desconocidos, no negativos. / A diagnosis is not required. Describe the finding and known tests. Missing data will be treated as unknown, not negative.
Obligatorio. Ej.: prenatal, recién nacido, 3 años, adolescente. / Required. E.g. prenatal, newborn, 3 years, adolescent.
Obligatorio. Incluya solo los datos clínicamente pertinentes y ningún identificador. Máximo 5.000 caracteres. / Required. Include only clinically relevant, non-identifiable data. Maximum 5,000 characters.
Opcional. Indique exploración, bioquímica, genética, imagen o anatomía ya conocidas. Máximo 4.000 caracteres. / Optional. Report known examination, biochemical, genetic, imaging or anatomical findings. Maximum 4,000 characters.
Pregunta del especialista / Specialist question
En un caso clínico es opcional; si se deja vacía, se solicitará automáticamente un diagnóstico diferencial y un plan de estudio.
Consultas completadas: 25

La generación de la respuesta puede tardar unos segundos; el botón mostrará el tiempo transcurrido. / Response generation may take a few seconds; the button will display elapsed time.

Diseño, fuentes y seguridad documental

Design, sources and documentary safety

Este evaluador utiliza recuperación aumentada por generación (RAG) y responde exclusivamente a partir de un conjunto cerrado de 51 fuentes clínicas y documentales seleccionadas. Los documentos se han convertido en archivos estructurados optimizados para recuperación, con especial atención a tablas, algoritmos, recomendaciones, denominadores, resultados por subgrupos y limitaciones metodológicas.

This evaluator uses retrieval-augmented generation (RAG) and answers exclusively from a closed set of 51 selected clinical and documentary sources. Documents have been converted into structured retrieval-optimised files, with particular attention to tables, algorithms, recommendations, denominators, subgroup results and methodological limitations.

Áreas documentales principales / Main documentary domains

  • Evaluación diagnóstica / Diagnostic assessment: hallazgos anatómicos, genitales atípicos, bioquímica, mini-pubertad, imagen, citogenética y diagnóstico genético.
  • Anomalías urogenitales / Urogenital anomalies: anomalías müllerianas, OHVIRA, seno urogenital, cloaca, masas quísticas retrovesicales y anomalías renales asociadas.
  • Atención longitudinal / Long-term care: modelos multidisciplinares, comunicación, pubertad, calidad de vida, sexualidad, apoyo psicosocial y transición.
  • Cirugía, gónadas y fertilidad / Surgery, gonads and fertility: resultados funcionales, preservación de fertilidad, riesgo tumoral, vigilancia y gonadectomía.
Ver el listado completo de las 51 fuentes / View the full list of 51 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.
  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 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 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 DSD.
  23. van Zoest M et al. (2019). Sex Assignment and Diagnostics in Infants with Ambiguous Genitalia.
  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.
  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 DSD (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 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. Pyle LC, Nathanson KL (2017). A practical guide for evaluating gonadal germ cell tumor predisposition in differences of sex development.
  41. Morin J et al. (2020). Gonadal malignancy in patients with differences of sex development.
  42. Peard LM et al. (2023). Gonadal tumors in a contemporary cohort of patients with differences in sex development undergoing surgery.
  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. Dowlut-McElroy T et al. (2025). Gonadal Tumors in Individuals with Turner Syndrome and Y-Chromosome Mosaicism: A Retrospective Multisite Study.
  47. Barros BA et al. (2021). Complete androgen insensitivity syndrome and risk of gonadal malignancy: systematic review.
  48. Guaragna-Filho G et al. (2023). Pubertal and Gonadal Outcomes in 46,XY Individuals with Partial Androgen Insensitivity Syndrome Raised as Girls.
  49. Ljubicic ML et al. (2019). Clinical but Not Histological Outcomes in Males With 45,X/46,XY Mosaicism Vary Depending on Reason for Diagnosis.
  50. Johnson EK et al. (2019). Gonadal Tissue Cryopreservation for Children with Differences of Sex Development.
  51. Han JH et al. (2016). Clinical Implications of Obstructed Hemivagina and Ipsilateral Renal Anomaly (OHVIRA) Syndrome in the Prepubertal Age Group.

Español: Las guías vigentes y los consensos contemporáneos tienen prioridad para las recomendaciones asistenciales. Los estudios originales y revisiones fundamentan 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: Current 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: en un caso clínico incompleto, el sistema debe ofrecer una orientación provisional y un plan de estudio sin convertir datos ausentes en negativos. En una pregunta documental puede abstenerse de una afirmación concreta cuando las fuentes recuperadas no la respaldan. En ambos modos debe diferenciar evidencia, inferencia y limitaciones.

Methodological note: in an incomplete clinical case, the system should provide provisional guidance and a diagnostic work-up without treating missing data as negative. In a documentary query it may abstain from a specific claim when the retrieved sources do not support it. In both modes it should distinguish evidence, inference and limitations.

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