Summary
Definition
History and exam
Key diagnostic factors
- boys: testes <4 mL
- girls: absent breast development
- absent pubic/axillary hair
- absence of menarche >3 years from breast budding
- 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
- 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)
Diagnostic tests
1st tests to order
- Tanner staging
- measurement of testicular size
- nondominant wrist x-ray
- basal follicle-stimulating hormone (FSH) and luteinizing hormone (LH)
Tests to consider
- 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
Emerging tests
- overnight gonadotropin profile
- genetic sequencing
- measurement of LH following stimulation with kisspeptin
Treatment algorithm
constitutional delay
organic (permanent) cause: boys
organic (permanent) cause: girls
chronic illness or malnutrition
persistent hypogonadism postpuberty
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.
Differentials
- Premature ovarian failure
- Premature testicular failure
- Hypogonadotropic Hypogonadism
More DifferentialsGuidelines
- Pubertal induction and transition to adult sex hormone replacement in patients with congenital pituitary or gonadal reproductive hormone deficiency
- Society for Endocrinology UK guidance on the initial evaluation of a suspected difference or disorder of sex development (revised 2021)
More GuidelinesPatient information
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