Summary
Definition
History and exam
Key diagnostic factors
- presencia de factores de riesgo
- niños: testículos <4 ml
- niñas: ausencia de desarrollo mamario
- ausencia de vello púbico/axilar
- ausencia de menarquia >3 años desde el brote de la mama
- ausencia de brote de crecimiento
- anosmia
Other diagnostic factors
- estatura baja
- rasgos dismórficos
Risk factors
- antecedentes familiares de retraso puberal
- anomalías estructurales hipofisarias congénitas
- mutaciones genéticas
- enfermedades cromosómicas
- diagnóstico sindrómico
- alimentación restrictiva
- enfermedad sistémica crónica
- desnutrición
- ejercicio intenso
- anomalías testiculares congénitas
- anomalías de la diferenciación gonadal adquiridas
- cirugía de la hipófisis
- hipoplasia suprarrenal
- quimioterapia
- radioterapia
- histiocitosis
- anemia falciforme
- sobrecarga de hierro (asociada con transfusiones)
Diagnostic investigations
1st investigations to order
- Etapas de Tanner
- medición del tamaño testicular
- radiografía de la muñeca no dominante
- hormona foliculoestimulante (FSH) basal y hormona luteinizante (LH)
Investigations to consider
- prueba de estimulación de la hormona liberadora de hormona luteinizante (LHRH)
- inhibina B
- hormona antimulleriana (AMH)
- prueba de estimulación con gonadotropina coriónica humana (hCG)
- imagen por resonancia magnética (IRM) cerebral
- cariotipo
- ultrasonido de pelvis y abdomen
- ecocardiograma
- autoanticuerpos ováricos séricos
- evaluación del olfato
- pruebas de función tiroidea
- prolactina sérica
- otras investigaciones de hormonas hipofisarias
Emerging tests
- perfil de gonadotropinas durante la noche
- secuenciación genética
- medición de la LH tras la estimulación con kisspeptina
Treatment algorithm
retraso constitucional
causa orgánica (permanente): niños
causa orgánica (permanente): niñas
enfermedad crónica o desnutrición
hipogonadismo pospuberal persistente
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
- Insuficiencia ovárica prematura
- Insuficiencia testicular prematura
- Hipogonadismo hipogonadotrópico
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