Summary
Definition
History and exam
Key diagnostic factors
- presença de fatores de risco
- meninos: testículos <4 mL
- meninas: desenvolvimento das mamas ausente
- ausência de pelos púbicos/axilares
- ausência de menarca >3 anos a partir do brotamento mamário
- ausência de estirão de crescimento
- anosmia
Other diagnostic factors
- baixa estatura
- características dismórficas
Risk factors
- história familiar de puberdade tardia
- anormalidades estruturais congênitas da hipófise
- mutações genéticas
- alterações cromossômicas
- diagnóstico de síndrome
- alimentação restritiva
- doença sistêmica crônica
- desnutrição
- exercícios físicos intensos
- anormalidades testiculares congênitas
- anormalidades gonadais adquiridas
- cirurgia na hipófise
- hipoplasia adrenal
- quimioterapia
- radioterapia
- histiocitose
- doença falciforme
- sobrecarga de ferro (associada a transfusão)
Diagnostic investigations
1st investigations to order
- Estágios de Tanner
- medição do tamanho testicular
- radiografia do punho não dominante
- hormônio folículo-estimulante (FSH) e hormônio luteinizante (LH) basais
Investigations to consider
- teste de estimulação com hormônio liberador de hormônio luteinizante (LHRH)
- inibina B
- hormônio antimülleriano (HAM)
- teste de estímulo com gonadotrofina coriônica humana (hCG)
- ressonância nuclear magnética (RNM) cranioencefálica
- cariótipo
- ultrassonografia da pelve e do abdome
- ecocardiograma
- autoanticorpos ovarianos séricos
- avaliação da olfação
- testes da função tireoidiana
- prolactina sérica
- investigações de outros hormônios da hipófise
Emerging tests
- perfil de gonadotrofinas minutadas de repouso (overnight)
- sequenciamento genético
- medição de LH após estimulação com kisspeptina
Treatment algorithm
retardo constitucional
causa orgânica (permanente): meninos
causa orgânica (permanente): meninas
doença crônica ou desnutrição
hipogonadismo persistente pós-puberdade
Contributors
Authors
Talat Mushtaq, BSc, MBCHB, MRCPCH, MD
Paediatric Endocrinology Consultant
Leeds Teaching Hospitals NHS Trust
Leeds
UK
Disclosures
TM has received support from Novo Nordisk and Pfizer to attend overseas conferences. He has also received honoraria from Kyowa Kirin for lectures and educational events.
Sasha Howard, MBBS, MRCPCH, MSc, PhD
Senior Lecturer and Honorary Consultant in Paediatric Endocrinology
Queen Mary University of London
Barts Health NHS Trust
London
UK
Disclosures
SH has received speaking honoraria from Sandoz and Novo Nordisk.
Acknowledgements
Dr Talat Mushtaq and Dr Sasha Howard would like to gratefully acknowledge Dr Ameeta Mehta and Professor Peter Hindmarsh, previous contributors to this topic.
Disclosures
AM and PH are authors of several references cited in this topic.
Peer reviewers
Nicola Bridges, DM, MRCP, FRCPCH
Consultant Paediatric Endocrinologist
Chelsea and Westminster Hospital
Honorary Senior Lecturer
Imperial College School of Medicine
London
UK
Disclosures
NB declares that she has no competing interests.
Sara DiVall , MD
Associate Professor of Pediatrics
University of Washington
Seattle
WA
Disclosures
SD 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
Palmert MR, Dunkel L. Clinical practice. Delayed puberty. N Engl J Med. 2012 Feb 2;366(5):443-53. Abstract
Howard SR, Dunkel L. The genetic basis of delayed puberty. Neuroendocrinology. 2018;106(3):283-91.Full text Abstract
Marshall WA, Tanner JM. Variations in pattern of pubertal changes in girls. Arch Dis Child. 1969 Jun;44(235):291-303.Full text Abstract
Marshall WA, Tanner JM. Variations in the pattern of pubertal changes in boys. Arch Dis Child. 1970 Feb;45(239):13-23.Full text Abstract
Reference articles
A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
Differentials
- Insuficiência ovariana prematura
- Insuficiência testicular prematura
- Hipogonadismo hipogonadotrófico
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