Summary
Definition
History and exam
Key diagnostic factors
- genitália atípica sem gônadas palpáveis
- genitália atípica com uma gônada palpável
- genitália atípica com gônadas palpáveis bilateralmente
- comprimento do pênis <2.5 cm em um lactente de fenótipo masculino
- clitóris >1 cm em uma lactente de fenótipo feminino
- hipospadia e criptorquidia ou separação de sacos escrotais
- abertura uretral na base do pênis
Other diagnostic factors
- hipotensão e vômitos
- características faciais dismórficas
Risk factors
- história familiar
Diagnostic investigations
1st investigations to order
- análise cromossômica (cariótipo)
- eletrólitos e glicose séricos
- ultrassonografia pélvica
Investigations to consider
- 17-hidroxiprogesterona sérica
- atividade da renina plasmática
- 11-desoxicortisol e 11-desoxicorticosterona séricas
- testosterona sérica
- di-hidrotestosterona sérica
- LH e hormônio folículo-estimulante (FSH) séricos
- teste de estímulo com o hormônio adrenocorticotrópico (ACTH)
- teste de estímulo com gonadotrofina coriônica humana (hCG)
- hormônio antimülleriano (HAM)
- perfil urinário de esteroides
Treatment algorithm
todos os neonatos com genitália atípica
46,XX: hiperplasia adrenal congênita secundária à deficiência de 21-hidroxilase (na apresentação)
46,XY
disgenesia gonadal mista 45,X/46,XY
46,XX: hiperplasia adrenal congênita secundária à deficiência de 21-hidroxilase (após a atribuição do sexo)
46,XY
disgenesia gonadal mista 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.
Peer reviewer acknowledgements
BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.
Disclosures
Peer reviewer affiliations and disclosures pertain to the time of the review.
References
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.
Отличия
- Micropênis decorrente de outra causa
- Criptorquidia unilateral
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