Summary
Definition
History and exam
Key diagnostic factors
- presence of risk factors
- boys: testes <3 mL
- girls: absent breast development
- absent pubic/axillary hair
- absence of menarche
- absent growth spurt
- anosmia
Other diagnostic factors
- short stature
- dysmorphic features
Risk factors
- family history of delayed puberty
- congenital pituitary structural abnormalities
- gene mutations
- chromosomal disorders
- syndromic diagnosis
- eating disorders
- chronic systemic illness
- malnutrition
- intense exercise
- congenital testicular abnormalities
- acquired gonadal abnormalities
- pituitary surgery
- adrenal hypoplasia
- chemotherapy
- radiotherapy
- histiocytosis
- sickle cell disease
- iron overload (associated with transfusion)
Diagnostic investigations
1st investigations to order
- non-dominant wrist x-ray
- basal follicle-stimulating hormone and luteinising hormone
Investigations to consider
- luteinising hormone-releasing hormone stimulation test
- human chorionic gonadotrophin 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
Emerging tests
- overnight gonadotrophin profile
Treatment algorithm
constitutional delay
organic (permanent) cause: boys
organic (permanent) cause: girls
chronic illness or malnutrition
persistent hypogonadism post-puberty
Contributors
Authors
Ameeta Mehta, MBBS, DCH, DNBE, MSc, MRCP, MD

Paediatric Endocrinologist
London
UK
Disclosures
AM is an author of several articles cited in this topic.
Peter Hindmarsh, BSc, MD, FRCP, FRCPCH
Professor of Paediatric Endocrinology
University College London
London
UK
Disclosures
PH is an author of several articles cited within this topic.
Peer reviewers
Dianne Deplewski, MD
Assistant Professor of Pediatrics
University of Chicago
Chicago
IL
Disclosures
DD declares that she has no competing interests.
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.
Differentials
- Premature ovarian failure
- Premature testicular failure
- Hypothyroidism
More DifferentialsGuidelines
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