When viewing this topic in a different language, you may notice some differences in the way the content is structured, but it still reflects the latest evidence-based guidance.

Atypical genitalia in neonates

Última revisão: 15 Jun 2025
Última atualização: 24 Oct 2024

Resumo

Definição

História e exame físico

Principais fatores diagnósticos

  • atypical genitalia with no palpable gonads
  • atypical genitalia with one palpable gonad
  • atypical genitalia with bilaterally palpable gonads
  • penile length <2.5 cm in a phenotypic male
  • clitoris >1 cm in a phenotypic female
  • hypospadias and undescended testes or separation of scrotal sacs
  • urethral opening at base of phallus
Detalhes completos

Outros fatores diagnósticos

  • hypotension and vomiting
  • dysmorphic facial features
Detalhes completos

Fatores de risco

  • family history
Detalhes completos

Investigações diagnósticas

Primeiras investigações a serem solicitadas

  • chromosome analysis (karyotype)
  • serum electrolytes and glucose
  • pelvic ultrasound
Detalhes completos

Investigações a serem consideradas

  • serum 17 hydroxyprogesterone
  • plasma renin activity
  • serum 11 deoxycortisol and 11 deoxycorticosterone
  • serum testosterone
  • serum dihydrotestosterone
  • serum LH and follicle-stimulating hormone (FSH)
  • adrenocorticotropic hormone (ACTH) stimulation test
  • human chorionic gonadotropin (hCG) stimulation test
  • anti-Müllerian hormone (AMH)
  • urine steroid profile
Detalhes completos

Algoritmo de tratamento

Inicial

all neonates presenting with atypical genitalia

AGUDA

46,XX: congenital adrenal hyperplasia secondary to 21 hydroxylase deficiency (at presentation)

46,XY

45,X/46,XY mixed gonadal dysgenesis

CONTÍNUA

46,XX: congenital adrenal hyperplasia secondary to 21 hydroxylase deficiency (following sex assignment)

46,XY

45,X/46,XY mixed gonadal dysgenesis

Colaboradores

Autores

Justin H Davies, MD, FRCPCH, MRCP

Consultant Paediatric Endocrinologist

Hon. Associate Professor

University of Southampton

Southampton

UK

Declarações

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.

Agradecimentos

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.

Revisores

Paul Saenger, MD, MACE

Professor of Pediatrics

Department of Pediatrics (Endocrinology)

Montefiore Medical Center

Albert Einstein College of Medicine

New York

NY

Declarações

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

Declarações

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

Declarações

PYF declares that she has no competing interests.

Referências

Nossas equipes internas de editoria e de evidências trabalham em conjunto com colaboradores internacionais especializados e pares revisores para garantir que forneçamos acesso às informações o mais clinicamente relevantes possível.

Principais artigos

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.Texto completo  Resumo

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.Texto completo  Resumo

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

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. Resumo

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]. Resumo

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

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

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. Resumo

Artigos de referência

Uma lista completa das fontes referenciadas neste tópico está disponível para os usuários com acesso total ao BMJ Best Practice.
  • Atypical genitalia in neonates images
  • Diagnósticos diferenciais

    • Micropenis due to another cause
    • Unilateral undescended testis (cryptorchidism)
    Mais Diagnósticos diferenciais
  • Diretrizes

    • Guidelines on paediatric urology
    • UK guidance on the initial evaluation of a suspected difference or disorder of sex development (revised 2021)
    Mais Diretrizes
  • padlock-lockedConectar-se ou assinar para acessar todo o BMJ Best Practice

O uso deste conteúdo está sujeito ao nosso aviso legal