Summary
Definition
History and exam
Key diagnostic factors
- presence of risk 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
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
- radiotherapy
- histiocytosis
- sickle cell disease
- iron overload (associated with transfusion)
Diagnostic investigations
1st investigations to order
- Tanner staging
- measurement of testicular size
- non-dominant wrist x-ray
- basal follicle-stimulating hormone (FSH) and luteinising hormone (LH)
Investigations to consider
- luteinising hormone-releasing hormone stimulation test (LHRH)
- inhibin B
- anti-Mullerian hormone (AMH)
- human chorionic gonadotrophin (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 gonadotrophin profile
- genetic sequencing
- measurement of LH following stimulation with kisspeptin
Treatment algorithm
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.
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 here.
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