Summary
Definition
Anamnesis y examen
Principales factores de diagnóstico
- boys: testes <4 mL
- girls: absent breast development
- absent pubic/axillary hair
- absence of menarche >3 years from breast budding
- absent growth spurt
- anosmia
Otros factores de diagnóstico
- short stature
- dysmorphic features
Factores de riesgo
- family history of delayed puberty
- congenital pituitary structural abnormalities
- gene mutations
- chromosomal disorders
- syndromic diagnosis
- restrictive eating
- chronic systemic illness
- malnutrition
- intense exercise
- congenital testicular abnormalities
- acquired gonadal abnormalities
- pituitary surgery
- adrenal hypoplasia
- chemotherapy
- radiation therapy
- histiocytosis
- sickle cell disease
- iron overload (associated with transfusion)
Pruebas diagnósticas
Primeras pruebas diagnósticas para solicitar
- Tanner staging
- measurement of testicular size
- nondominant wrist x-ray
- basal follicle-stimulating hormone (FSH) and luteinizing hormone (LH)
Pruebas diagnósticas que deben considerarse
- luteinizing hormone-releasing hormone stimulation test (LHRH)
- inhibin B
- anti-Mullerian hormone (AMH)
- human chorionic gonadotropin (hCG) stimulation test
- MRI brain
- karyotype
- ultrasound pelvis and abdomen
- echocardiogram
- serum ovarian autoantibodies
- assessment of olfaction
- thyroid function tests
- serum prolactin
- other pituitary hormone investigations
Pruebas emergentes
- overnight gonadotropin profile
- genetic sequencing
- measurement of LH following stimulation with kisspeptin
Algoritmo de tratamiento
constitutional delay
organic (permanent) cause: boys
organic (permanent) cause: girls
chronic illness or malnutrition
persistent hypogonadism postpuberty
Colaboradores
Autores
Talat Mushtaq, BSc, MBCHB, MRCPCH, MD
Paediatric Endocrinology Consultant
Leeds Teaching Hospitals NHS Trust
Leeds
UK
Divulgaciones
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
Divulgaciones
SH has received speaking honoraria from Sandoz and Novo Nordisk.
Agradecimientos
Dr Talat Mushtaq and Dr Sasha Howard would like to gratefully acknowledge Dr Ameeta Mehta and Professor Peter Hindmarsh, previous contributors to this topic.
Divulgaciones
AM and PH are authors of several references cited in this topic.
Revisores por pares
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.
Differentials
- Premature ovarian failure
- Premature testicular failure
- Hypogonadotropic Hypogonadism
More DifferentialsGuidelines
- ACR-ACOG-AIUM-SPR-SRU practice parameter for the performance of ultrasound of the female pelvis
- Pubertal induction and transition to adult sex hormone replacement in patients with congenital pituitary or gonadal reproductive hormone deficiency
More GuidelinesPatient information
Osteoporosis
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