Last reviewed: August 2020
Last updated: January  2018



History and exam

Key diagnostic factors

  • presence of risk factors
  • palpable breast tissue
  • newborn age
  • pubertal age
  • older adult age
  • accidental medication exposure in children
  • chemical substance abuse
  • acne in adult males
  • obesity
  • breast pain
  • small or soft testicles

Other diagnostic factors

  • erectile dysfunction or decreased libido
  • nutritional supplements
  • past history of abnormal sexual differentiation
  • delayed secondary sex characteristics
  • precocious puberty
  • weight loss and malnutrition
  • signs or symptoms of hypothalamic or pituitary disease
  • signs or symptoms of liver failure (e.g., jaundice, ascites, spiders)
  • signs or symptoms of hyperthyroidism (e.g., heat intolerance, weight loss, goitre)
  • decreased body hair
  • painless or enlarging testicular mass
  • diminished strength or muscle atrophy

Risk factors

  • anabolic steroid usage
  • occupational exposure to embalming fluid or oral contraceptives
  • contact with environmental phyto-oestrogens or phthalates
  • prostate cancer
  • gender identity disorder
  • hyperthyroidism
  • renal failure
  • cirrhosis
  • drugs that reduce testosterone synthesis
  • drugs that impair testosterone action
  • drugs that increase oestrogen levels or stimulate oestrogen receptors
  • drugs with complex or unknown mechanisms

Diagnostic investigations

1st investigations to order

  • serum TSH
  • serum creatinine
  • serum LFTs
  • core biopsy of breast (if cancer suspected)
More 1st investigations to order

Investigations to consider

  • serum total testosterone
  • serum LH
  • serum estradiol
  • serum sex hormone binding globulin (SHBG)
  • serum free testosterone
  • serum beta hCG
  • serum dehydroepiandrosterone sulphate (DHEAS)
  • serum prolactin
  • mammogram
  • breast ultrasound
More investigations to consider

Treatment algorithm


Catherine B. Niewoehner

Professor of Medicine

University of Minnesota




CBN is an author of a number of references cited in this monograph.

Peer reviewersVIEW ALL

Professor of Pediatrics

Rumsey Chair of Pediatric Endocrinology

University of California




DS declares that he has no competing interests.

Professor of Medicine and Head of Endocrinology

Stony Brook University

Stony Brook



HC is an author of a reference cited in this monograph.

Professor and Chairman

Department of Medicine

Cedars-Sinai Medical Center

Los Angeles



GB declares that he has no competing interests.

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