Last reviewed: 30 Oct 2020
Last updated: 28 Feb 2020



History and exam

Key diagnostic 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 tumors
  • cranial irradiation
  • McCune-Albright syndrome
  • gonadal tumors
  • 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 luteinizing hormone (LH)
  • serum testosterone
  • serum estrogen
  • ultrasound pelvis
  • LHRH stimulation test
More 1st investigations to order

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
More investigations to consider

Emerging tests

  • overnight gonadotropin profile
More emerging tests

Treatment algorithm


Ameeta Mehta

Paediatric Endocrinologist




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

Professor of Paediatric Endocrinology

University College London




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




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




DD declares that she has no competing interests.

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