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Genitales atípicos en neonatos

  • Descripción general
  • Teoría
  • Diagnóstico
  • Manejo
  • Seguimiento
  • Recursos
Última revisión: 19 Jul 2025
Última actualización: 04 Abr 2023

Resumen

Definición

Anamnesis y examen

Principales factores de diagnóstico

  • genitales atípicos sin gónadas palpables
  • genitales atípicos con una gónada palpable
  • genitales atípicos con gónadas palpables bilateralmente
  • longitud del pene <2.5 cm en un varón fenotípico
  • clítoris >1 cm en un lactante de fenotipo femenino
  • hipospadias y testículos que no han descendido, o separación de los sacos escrotales
  • abertura uretral en la base del pene
Todos los datos

Otros factores de diagnóstico

  • hipotensión y vómitos
  • rasgos faciales dismórficos
Todos los datos

Factores de riesgo

  • antecedentes familiares
Todos los datos

Diagnostic investigations

1st investigations to order

  • análisis cromosómicos (cariotipo)
  • electrolitos séricos y glucosa
  • ultrasonido pélvico
Full details

Investigations to consider

  • 17-hidroxiprogesterona sérica
  • actividad de la renina plasmática
  • 11-desoxicortisol y 11-desoxicorticosterona séricos
  • testosterona en suero
  • dihidrotestosterona sérica
  • hormona luteinizante (LH) y hormona foliculoestimulante (FSH) séricas
  • prueba de estimulación con hormona adrenocorticotrópica (ACTH).
  • prueba de estimulación con gonadotropina coriónica humana (hCG)
  • hormona antimülleriana (HAM)
  • perfil de esteroides en orina
Full details

Treatment algorithm

INITIAL

todos los neonatos que presenten genitales atípicos

ACUTE

46,XX: hiperplasia suprarrenal congénita secundaria a una deficiencia de 21-hidroxilasa (en la presentación)

46,XY

disgenesia gonadal mixta 45,X/46,XY

ONGOING

46,XX: hiperplasia suprarrenal congénita secundaria a una deficiencia de 21-hidroxilasa (después de la asignación de sexo)

46,XY

disgenesia gonadal mixta 45,X/46,XY

Contributors

Authors

Justin H Davies, MD, FRCPCH, MRCP

Consultant Paediatric Endocrinologist

Hon. Associate Professor

University of Southampton

Southampton

UK

Disclosures

JD is associate editor for the Journal of Paediatric Endocrinology and Metabolism; has travel bursaries from SANDOZ, Kwyo Kyrin, and Novo Nordisk; and has developed educational materials for Kwyo Kyrin. JD completed tenure as chair of the British Society for Paediatric Endocrinology in Nov 2020.

Acknowledgements

Dr Justin Davies would like to gratefully acknowledge Dr Gemma Watts and Dr Ingrid A. Holm, previous contributors to this topic. IAH and GW declare that they have no competing interests.

Peer reviewers

Paul Saenger, MD, MACE

Professor of Pediatrics

Department of Pediatrics (Endocrinology)

Montefiore Medical Center

Albert Einstein College of Medicine

New York

NY

Disclosures

PS declares that he has no competing interests.

Mary M. Lee, MD

Professor of Pediatrics and Cell Biology

Vice-Chair of Academic Affairs in Pediatrics

Pediatric Endocrine Division

UMass Medical School

Worcester

MA

Disclosures

MML declares that she has no competing interests.

Patricia Y. Fechner, MD

Associate Professor Pediatrics

Pediatric Endocrinology

University of WA

Medical Director of DSD Program

Seattle Children’s Hospital

Seattle

WA

Disclosures

PYF declares that she has no competing interests.

References

Our in-house evidence and editorial teams collaborate with international expert contributors and peer reviewers to ensure that we provide access to the most clinically relevant information possible.

Key articles

Lee PA, Nordenström A, Houk CP, et al. Global disorders of sex development update since 2006: perceptions, approach and care. Horm Res Paediatr. 2016 Jan 28;85(3):158-80.Full text  Abstract

Cools M, Nordenström A, Robeva R, et al. Caring for individuals with a difference of sex development (DSD): a Consensus Statement. Nat Rev Endocrinol. 2018 Jul;14(7):415-29.Full text  Abstract

MacLaughlin DT, Donahoe PK. Sex determination and differentiation. N Engl J Med. 2004 Jan 22;350(4):367-78. Abstract

Lambert SM, Vilain EJ, Kolon TF. A practical approach to ambiguous genitalia in the newborn period. Urol Clin North Am. 2010 May;37(2):195-205. Abstract

Davies JH, Cheetham T. Recognition and assessment of atypical and ambiguous genitalia in the newborn. Arch Dis Child. 2017 Apr 25 [Epub ahead of print]. Abstract

Chavhan GB, Parra DA, Oudjhane K, et al. Imaging of ambiguous genitalia: classification and diagnostic approach. Radiographics. 2008 Nov-Dec;28(7):1891-904. Abstract

Brain CE, Creighton SM, Mushtaq I, et al. Holistic management of DSD. Best Pract Res Clin Endocrinol Metab. 2010 Apr;24(2):335-54.Full text  Abstract

Mieszczak J, Houk CP, Lee PA. Assignment of the sex of rearing in the neonate with a disorder of sex development. Curr Opin Pediatr. 2009 Aug;21(4):541-7. Abstract

Reference articles

A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
  • Genitales atípicos en neonatos images

  • Diagnósticos diferenciais

    • Micropene debido a otra causa
    • Testículo no descendido (criptorquidia) unilateral
    More Differentials

  • Diretrizes

    • Guidelines on paediatric urology
    • UK guidance on the initial evaluation of a suspected difference or disorder of sex development (revised 2021)
    More Diretrizes
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