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
Outros fatores diagnósticos
- hypotension and vomiting
- dysmorphic facial features
Fatores de risco
- family history
Investigações diagnósticas
Primeiras investigações a serem solicitadas
- chromosome analysis (karyotype)
- serum electrolytes and glucose
- pelvic ultrasound
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
Algoritmo de tratamento
all neonates presenting with atypical genitalia
46,XX: congenital adrenal hyperplasia secondary to 21 hydroxylase deficiency (at presentation)
46,XY
45,X/46,XY mixed gonadal dysgenesis
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
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.
Diagnósticos diferenciais
- Micropenis due to another cause
- Unilateral undescended testis (cryptorchidism)
Mais Diagnósticos diferenciaisDiretrizes
- Guidelines on paediatric urology
- UK guidance on the initial evaluation of a suspected difference or disorder of sex development (revised 2021)
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