შეჯამება
განსაზღვრება
Анамнез и осмотр
Ключевые диагностические факторы
- boys: testes <4 mL
- girls: absent breast development
- absent pubic/axillary hair
- absence of menarche >3 years from breast budding
- absent growth spurt
- anosmia
Другие диагностические факторы
- short stature
- dysmorphic features
Факторы риска
- 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)
Диагностические исследования
Исследования, которые показаны в первую очередь
- Tanner staging
- measurement of testicular size
- nondominant wrist x-ray
- basal follicle-stimulating hormone (FSH) and luteinizing hormone (LH)
Исследования, проведение которых нужно рассмотреть
- 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
Неотложные исследования
- overnight gonadotropin profile
- genetic sequencing
- measurement of LH following stimulation with kisspeptin
Алгоритм лечения
constitutional delay
organic (permanent) cause: boys
organic (permanent) cause: girls
chronic illness or malnutrition
persistent hypogonadism postpuberty
Составители
Авторы
Talat Mushtaq, BSc, MBCHB, MRCPCH, MD
Paediatric Endocrinology Consultant
Leeds Teaching Hospitals NHS Trust
Leeds
UK
Раскрытие информации
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
Раскрытие информации
SH has received speaking honoraria from Sandoz and Novo Nordisk.
Выражение благодарностей
Dr Talat Mushtaq and Dr Sasha Howard would like to gratefully acknowledge Dr Ameeta Mehta and Professor Peter Hindmarsh, previous contributors to this topic.
Раскрытие информации
AM and PH are authors of several references cited in this topic.
Рецензенты
Nicola Bridges, DM, MRCP, FRCPCH
Consultant Paediatric Endocrinologist
Chelsea and Westminster Hospital
Honorary Senior Lecturer
Imperial College School of Medicine
London
UK
Раскрытие информации
NB declares that she has no competing interests.
Sara DiVall , MD
Associate Professor of Pediatrics
University of Washington
Seattle
WA
Раскрытие информации
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.
Список литературы
Основные статьи
Palmert MR, Dunkel L. Clinical practice. Delayed puberty. N Engl J Med. 2012 Feb 2;366(5):443-53. Аннотация
Howard SR, Dunkel L. The genetic basis of delayed puberty. Neuroendocrinology. 2018;106(3):283-91.Полный текст Аннотация
Marshall WA, Tanner JM. Variations in pattern of pubertal changes in girls. Arch Dis Child. 1969 Jun;44(235):291-303.Полный текст Аннотация
Marshall WA, Tanner JM. Variations in the pattern of pubertal changes in boys. Arch Dis Child. 1970 Feb;45(239):13-23.Полный текст Аннотация
Статьи, указанные как источники
A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.

Отличия
- Premature ovarian failure
- Premature testicular failure
- Hypogonadotropic Hypogonadism
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