Last reviewed:September 2019
Last updated:October  2019

Summary

Definition

History and exam

Key diagnostic factors

  • presence of risk factors
  • boys: testes >4 mL
  • girls: breast development
  • pubic/axillary hair
  • menarche
  • increased growth velocity
  • tall stature

Other diagnostic factors

  • cafĂ© au lait spots
  • symptoms of other autonomous endocrine hyperfunction
  • polyostotic fibrous dysplasia
  • neurofibromas, axillary freckling, and kyphoscoliosis
  • facial dysmorphism
  • clitoromegaly
  • eye abnormalities
  • motor deficits
  • abnormal head size

Risk factors

  • brain tumours
  • cranial irradiation
  • McCune-Albright syndrome
  • gonadal tumours
  • congenital adrenal hyperplasia (CAH)
  • positive family history
  • exposure to exogenous hormones
  • head injury
  • neurofibromatosis type 1
  • previous central nervous system infections
  • hydrocephalus
  • congenital pituitary abnormalities
  • adoption
  • sexual abuse

Diagnostic investigations

1st investigations to order

  • bone age assessment
  • basal follicle-stimulating hormone (FSH) and luteinising hormone (LH)
  • serum testosterone
  • serum oestrogen
  • ultrasound pelvis
  • LHRH stimulation test
Full details

Investigations to consider

  • MRI brain
  • CT brain
  • 17-hydroxyprogesterone
  • urinary steroid profile
  • adrenocorticotropic hormone (ACTH) stimulation test
  • CT or MRI adrenals
  • ultrasound adrenals
  • bone scan/skeletal survey
  • other pituitary hormone investigations
  • genetic testing
  • thyroid function tests
Full details

Emerging tests

  • overnight gonadotrophin profile
Full details

Treatment algorithm

Contributors

Ameeta Mehta

Paediatric Endocrinologist

London

UK

Disclosures

AM is an author of several articles cited within this topic.

Professor of Paediatric Endocrinology

University College London

London

UK

Disclosures

PH is an author of several articles cited within this topic.

Peer reviewersVIEW ALL

Senior Lecturer in Child Health

Department of Child Health

Royal Hospital for Sick Children

Glasgow

UK

Disclosures

MD has received lecture fees and financial support from pharmaceutical companies (Pfizer, Novo Nordisk, Serono) who manufacture growth hormone and whose brands of growth hormone MD recommends. MD is also an author of articles cited in this topic.

Assistant Professor of Pediatrics

University of Chicago

Chicago

IL

Disclosures

DD declares that she has no competing interests.

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