Disorders of Puberty: An Approach to Diagnosis and Management

 

Am Fam Physician. 2017 Nov 1;96(9):590-599.

  Patient information: See related handout on early and delayed puberty.

Author disclosure: No relevant financial affiliations.

Disorders of puberty can profoundly impact physical and psychosocial well-being. Precocious puberty is pubertal onset before eight years of age in girls and before nine years of age in boys. Patients with early isolated pubertal changes, prepubertal linear growth, and no worrisome neurologic symptoms typically have a benign pattern of development and should be monitored in the appropriate clinical context. Among patients with true precocious puberty, or full activation of the hypothalamic-pituitary-gonadal axis, most girls have an idiopathic etiology, whereas it is commonly due to identifiable pathology on imaging in boys. History and physical examination should be followed by measurements of serum follicle-stimulating hormone, luteinizing hormone, and testosterone (boys) or estradiol (girls); thyroid function testing; and bone age radiography. Brain magnetic resonance imaging should be performed in girls younger than six years, all boys with precocious puberty, and children with neurologic symptoms. Delayed puberty is the absence of breast development in girls by 13 years of age and absence of testicular growth to at least 4 mL in volume or 2.5 cm in length in boys by 14 years of age. Constitutional delay of growth and puberty is a common cause of delayed puberty; however, functional or persistent hypogonadism should be excluded. History and physical examination should be followed by measurements of serum follicle-stimulating hormone, luteinizing hormone, and testosterone (boys) or estradiol (girls); and bone age radiography. Abnormal growth velocity necessitates assessment of serum thyroid function, prolactin, and insulinlike growth factor I. Boys 14 years and older and girls 13 years and older may benefit from sex steroid treatment to jump-start puberty. Referral to a pediatric endocrinologist may be warranted after the initial evaluation.

Puberty is a developmental stage characterized by physical and psychosocial maturation. Abnormal pubertal timing can adversely affect a child's physical and psychosocial well-being and may be caused by a range of generally benign or pathologic etiologies. Physicians must identify which findings are suitable for surveillance over time and which suggest treatable underlying pathology.

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SORT: KEY RECOMMENDATIONS FOR PRACTICE

Clinical recommendationEvidence ratingReferences

Girls with signs of puberty before eight years of age and boys with signs of puberty before nine years of age should be evaluated for precocious puberty.

C

5, 6

Girls without breast development by 13 years of age should be evaluated for delayed puberty, and girls without menarche by 15 years of age should be evaluated for primary amenorrhea.

C

5, 7, 25

Boys who do not have testicular growth to at least 4 mL in volume or 2.5 cm in length by 14 years of age should be evaluated for delayed puberty.

C

5, 7, 25

In patients with precocious puberty, brain magnetic resonance imaging should be performed in girls younger than six years, all boys, and children with neurologic symptoms to evaluate for a central nervous system lesion.

C

5, 6, 9

Boys older than 14 years and girls older than 13 years with possible constitutional delay of growth and puberty may benefit from a short course of sex steroids to jump-start puberty.

C

7, 25


A = consistent, good-quality patient-oriented evidence; B = inconsistent or limited-quality patient-oriented evidence; C = consensus, disease-oriented evidence, usual practice, expert opinion, or case series. For information about the SORT evidence rating system, go to http://www.aafp.org/afpsort.

SORT: KEY RECOMMENDATIONS FOR PRACTICE

Clinical recommendationEvidence ratingReferences

Girls with signs of puberty before eight years of age and boys with signs of puberty before nine years of age should be evaluated for precocious puberty.

C

5, 6

Girls without breast development by 13 years of age should be evaluated for delayed puberty, and girls without menarche by 15 years of age should be evaluated for primary amenorrhea.

C

5, 7, 25

Boys who do not have testicular growth to at least 4 mL in volume or 2.5 cm in length by 14 years of age should be evaluated for delayed puberty.

C

5, 7, 25

In patients with precocious puberty, brain magnetic resonance imaging should be performed in girls younger than six years, all boys, and children with neurologic symptoms to evaluate for a central nervous system lesion.

C

5, 6, 9

Boys older than 14 years and girls older than 13 years with possible constitutional delay of growth and puberty may benefit from a short course of sex steroids to jump-start puberty.

C

7, 25


A = consistent, good-quality patient-oriented evidence; B = inconsistent or limited-quality patient-oriented evidence; C = consensus, disease-oriented evidence, usual practice, expert opinion, or case series. For information about the SORT evidence rating system, go to http://www.aafp.org/afpsort.

Hormonal and Physical Changes of Normal

The Authors

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DAVID A. KLEIN, MD, MPH, is an associate program director of the National Capitol Consortium Family Medicine Residency, Fort Belvoir, Va. He is also an assistant professor of family medicine and pediatrics at the Uniformed Services University of the Health Sciences, Bethesda, Md....

JILL E. EMERICK, MD, is a pediatric endocrinologist at Walter Reed National Military Medical Center, Bethesda, Md. She is also an assistant professor of pediatrics at the Uniformed Services University of the Health Sciences.

JILLIAN E. SYLVESTER, MD, is a fellow at the National Capitol Consortium Military Primary Care Sports Medicine Fellowship. At the time this article was written, she was a third-year resident at the National Capitol Consortium Family Medicine Residency.

KAREN S. VOGT, MD, is a program director of the pediatric endocrinology fellowship at Walter Reed National Military Medical Center. She is also an associate professor of pediatrics at the Uniformed Services University of the Health Sciences.

Address correspondence to David A. Klein, MD, MPH, Fort Belvoir Community Hospital, Department of Family Medicine, 9300 DeWitt Loop, Fort Belvoir, VA, 22060 (e-mail: david.a.klein26.mil@mail.mil). Reprints are not available from the authors.

Author disclosure: No relevant financial affiliations.

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