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Puberty and Pubertal Variations

Overview

This page provides guidance for clinicians about puberty-related topics that are addressed in the medical home. Puberty is the normal physical transitional process that leads to reproductive maturity. Precocious (or early puberty) affects about 1% of children in the United States with most cases being a variant of normal. [Eugster: 2006] Delayed puberty is estimated to occur in about 3% of children with most being constitutional delay. Children with special health care needs can have increased risk of either early or delayed puberty, and in these instances, evaluation may be necessary to determine cause and potential need for intervention.

Definitions

  • Adrenarche: Often used synonymously with pubarche - a detectable increase in the secretion of adrenal androgens (may occur years before pubarche)
  • Gonadarche: Onset of puberty due to activation of hypothalamic-pituitary-gonadal (HPG) axis
  • Gynecomastia: Growth of glandular breast tissue in males
  • Menarche: Onset of menstruation
  • Pubarche: Onset of pubic hair development
  • Puberty: Onset of secondary sexual characteristics
  • Thelarche: Onset of breast development

Normal Puberty

Puberty usually starts between the ages of 8-13 for girls and 9-14 for boys with some variations based on family/genetic factors, nutritional status, race, and ethnicity. Some consider the onset of breast development and pubic hair in girls at ages 7 or 8 to be the new lower limit of normal because 15-20% of African American girls and 5-10% of Caucasian girls (and Hispanic in between) develop 1 or both of these signs by 7-8 years. [Hillard: 2013]
Gonadarche is the onset of central puberty leading to production of sex steroids by the ovaries (estrogen) or testes (testosterone). It is NOT defined by isolated pubic hair, axillary hair, body odor, or acne. [Palmert: 2012] These isolated signs can be related to adrenal androgen secretion (as discussed in adrenarche section) and develop independently from the hypothalamic–pituitary–gonadal (HPG) axis.
  • Pubertal changes in girls: thelarche, pubarche, growth, and menarche
  • Pubertal changes in boys: testicular enlargement, pubarche, and growth
The primary care clinician should watch for early or late development of secondary sexual characteristics and provide relevant anticipatory guidance and medical care including appropriate evaluations and referral. Children with obesity may start puberty earlier (more often seen in girls) or later (more often seen in boys) than children with a normal body mass index. [Kleber: 2011] [Rosenfield: 2009]

Precocious Puberty

Early (precocious) puberty is classically defined as the onset of secondary sexual characteristics tempered by the family history of maturation patterns. For girls, these changes include breast development or pubic or axillary hair before age 8 (as discussed in Normal Puberty, above, the age may be slightly younger than 8). For boys, these changes include testicular, scrotal, or penile enlargement and pubic or axillary hair before the age of 9. Precocious puberty can lead to more rapid growth, advanced bone age, and early fusion of growth plates leading to reduced adult height, as well as behavioral issues relating to early body maturation and sexual development. [Berberoğlu: 2009]
If concern for precocious puberty arises, the clinician must consider whether the change is due to a benign variant (e.g., isolated premature thelarche or adrenarche) or a central (intracranial mass or idiopathic) or peripheral (adrenal or gonadal) cause. Benign pubertal variants can be followed in the medical home; refer to endocrinology (see below) for evaluation and treatment of precocious puberty when there are concerning signs.
Algorithms to help clinicians evaluate girls and boys with early onset of secondary sexual characteristics: [Berberoğlu: 2009] While pelvic ultrasound is included in the evaluation algorithm of early breast development in girls, the involvement of a technician and radiologist experienced with pediatrics is strongly advised.

Premature Thelarche

Premature thelarche is breast development that is noted prior to age 8 as discussed above. Breast tissue can be unilateral or bilateral, as well as asymmetrical.
Diagnosis & Evaluation
  • Labs to consider: Early morning LH, FSH, and estradiol; bone age
    • Although not always necessary to perform, a clinical evaluation suggestive of a benign developmental variant would demonstrate a normal growth rate and normal bone age with prepubertal LH, normal to slightly increased estradiol, as well as FSH predominant response on a GnRH stimulation test.
  • Monitor girls with premature thelarche at well-child visits for other precocious puberty signs including any unusual growth pattern or development of other secondary sexual characteristics.
Differential Diagnoses
  • Lipomastia, mastitis, breast abscess, hemangioma
    • Lipomastia is the appearance of adipose breast tissue that has no palpable glandular structure or breast bud. Palpation (which is essential for this diagnosis) in the supine position can be helpful. [Kaplowitz: 2016]
Management
  • Infants and girls <2 years: In the context of normal growth and no other secondary sexual characteristics, non-progressive breast tissue is most often a normal developmental variant. Parents should be instructed not to “milk” the breast bud as this can enlarge it. [Diamantopoulos: 2007] Thelarche regresses in 30-60% of affected girls by 1-2 years. [Nakamoto: 2010]
  • Girls ages 2-7: Isolated premature thelarche in the context of normal growth deserves more evaluation but is most often benign. Premature thelarche that is accompanied by another pubertal sign (pubic hair, vaginal bleeding, etc.), increasing growth velocity, rapidly growing breasts, or advanced bone age >2 SD deserves a more extensive workup as well as an endocrine referral. [Berberoğlu: 2009]
  • Girls age 7-8: Be aware that many specialists consider the onset of thelarche in girls between the ages of 7-8 as a normal variant or “gray zone.”

Premature Adrenarche

Premature adrenarche is defined as onset of clinical manifestations of increased androgen action including pubarche (adult hair growth in the pubic area and armpits), with or without body odor or mild acne, in girls <8 and boys <9 years. [Hillard: 2013]
Diagnosis & Evaluation
  • Labs to consider: 17-hydroxyprogesterone, DHEAS, testosterone (early morning), LH, FSH, estradiol or testosterone – expect prepubertal to show no activation of HPG axis
  • Clinical evaluation suggestive of a benign developmental variant would demonstrate a normal growth rate and normal to slightly advanced bone age, and a DHEAS level typically in early pubertal range, 30-150 µg/dL. [Kaplowitz: 2016]
  • Breast development with adrenarche in girls or genital development in boys points towards true precocious puberty.
Differential Diagnoses
  • Congenital adrenal hyperplasia (especially non-classic, which is missed on newborn screen), adrenal tumors, gonadal tumors, exogenous androgen exposure, true precocious puberty [Novello: 2018]
Management
  • Girls with premature adrenarche have increased risk of polycystic ovary syndrome, insulin resistance, and metabolic syndrome in late adolescence. [Oberfield: 2011]
  • Severe acne, hirsutism, linear growth spurt, or enlarged clitoris or penile length, or increased testicular volume would merit additional workup in consultation with a pediatric endocrinologist. [Hillard: 2013]

Delayed Puberty

Delayed puberty is classically defined as absence of thelarche in girls at age 13, absence of menarche within 4 years of thelarche, or lack of testicular enlargement in boys at age 14. [Palmert: 2012] By far, the most common cause of delayed puberty is constitutional growth delay, which is a diagnosis of exclusion. An individual with delayed puberty is often referred to as a “late bloomer.” [Palmert: 2012]
Diagnosis & Evaluation
  • Labs to consider: First morning LH, FSH, estradiol (girls) or testosterone (boys), TSH +/- free T4, bone age. Karyotype, especially in girls with delayed puberty along or in conjunction with short stature to evaluate for Turner Syndrome
  • Family history of age at onset of puberty/menarche, heights of biological parents
  • History of CNS or gonadal insults, including trauma, infection, irradiation, or chemotherapy
  • Pubertal exam: Palpable breast tissue in girls and testicular volume >3mL indicates onset of puberty
  • Evaluate growth rate. Normal prepubertal growth rate in childhood is 4-7cm/year.
  • Evaluate weight gain/nutritional status. Underweight children are at risk of delayed puberty.
  • Examine for signs of genetic syndromes associated with delayed puberty, such as Klinefelter, Turner, Prader-Willi, Noonan and other rare syndromes
Differential Diagnoses
  • Constitutional delay
  • Functional hypogonadotropic hypogonadism: Underlying chronic disease, severe emotional stress, malnourished
  • Hypogonadotropic hypogonadism (low LH, FSH, sex hormone): Prader Willi Syndrome, Noonan syndrome, CNS lesions
  • Hypergonadotropic hypogonadism (high LH, FSH, and low sex hormone): Testicular failure including Klinefelter syndrome, testicular injury/infection, ovarian failure including Turner syndrome, primary ovarian failure due to autoimmunity
Management
  • Constitutional delay: Observation is most common; consider referral for possible treatment after a complete workup has been performed if there are significant psychosocial stressors.
  • Hypogonadotropic and hypergonadotropic hypogonadism: Hormone replacement aimed at mimicking normal physiology exam

Gynecomastia

Breast development in boys is common and usually benign. There are several types:
  • Lipomastia (pseudogynecomastia): Excess adipose tissue in breast area without true glandular breast tissue that is distinguishable only by palpation
  • Infantile gynecomastia: Same mechanism of premature thelarche in infant girls and typically resolves in a few months, but it may persist up to 12 months
  • Physiological pubertal gynecomastia presents in boys in sexual maturity rating/Tanner stage 3-4 (ages 13-14 years is the peak) and has an incidence as high as 50%. The mechanism in adolescents is caused by a relative imbalance of estrogen to testosterone, which leads to preferential estrogen effects until later in puberty when androgens/testosterone levels rise further. Typical resolution occurs within 1-3 years in 90% of boys.
    • More common in obese males – increased aromatization of androgens to estrogen by fat tissue
  • Pathologic gynecomastia: Possible causes include:
    • Increased estrogen from tumors (germ cell, Sertoli cell and Leydig cell, liver, and adrenal), drugs, substance abuse, hyperthyroidism, liver dysfunction, exogenous estrogen, or increased aromatase [Diamantopoulos: 2007]
    • Decreased androgens from primary gonadal dysfunction, androgen insensitivity, or problems with testosterone synthesis
  • Idiopathic gynecomastia mostly occurs in puberty or adulthood; however, it can occur before puberty in some. It is a diagnosis of exclusion and usually a benign condition, but psychological and cosmetic concerns may arise in some males. [Diamantopoulos: 2007]
    • Presence of obesity increases risk
Diagnosis & Evaluation
  • Labs to consider: Workup (LH, FSH, estradiol, testosterone, DHEAS, bHCG, LFTs ) for gynecomastia in prepubertal boys when there is rapid progression or nipple discharge
  • Assessment for abnormal growth patterns, eunechoid habitus, developmental delays, vision defects, neurological deficits, liver mass or abdominal mass
  • Palpation of the tissue (asymmetric or unilateral common), pubertal exam
  • Testicular exam: Look for testicular volume that is discrepant with sexual maturity rating/ Tanner stage or difference between testicles.
Co-occurring Conditions
  • Hypogonadism can occur in Klinefelter syndrome in association with a characteristic phenotype (sparse facial/pubic hair, eunuchoid body habitus) and behavioral problems.
Management
  • Physiological pubertal gynecomastia: Since most spontaneously resolve, no treatment is necessary. Cosmetic surgery is an option for particularly large/bothersome breast tissue.

Prepubertal Vaginal Bleeding

Infant girls may have spotting of blood (like a “mini-period”) and discharge after birth, known as neonatal withdrawal bleeding. Other causes of prepubertal girls can be trauma, foreign bodies, infection, urethral prolapse, or abnormalities of the vagina or uterus. Recurrent/cyclic vaginal bleeding, or premature menarche, is rare.
Diagnosis & Evaluation
  • Labs to consider: LH, FSH, estradiol, bone age as well as a pelvic ultrasound to investigate for tumors or ovarian cyst [Long: 2015]
  • Young girls may have 1-2 occasions of vaginal bleeding without any other clinical signs of precocious puberty. They have a normal prepubertal evaluation. [Kaplowitz: 2016]
Co-occurring Conditions
  • McCune-Albright syndrome, acquired central precocious puberty, or severe primary hypothyroidism
Management
  • For isolated prepubertal vaginal bleeding that occurs after the first 1-2 weeks of life, a good history and physical examination are necessary.
  • Consider consultation with a pediatric gynecologist to evaluate and manage structural causes.
  • For cyclic vaginal bleeding, consult with a pediatric endocrinologist to identify and address the underlying cause.

Puberty-Related Issues in Children with Special Health Care Needs

Many children with chronic medical conditions undergo pubertal development at approximately the same age as typically developing children, but there is often more variation in the onset, rate, and duration of this process.
  • Children born small for gestational age have a tendency for earlier pubarche and faster progression of puberty when compared to children born average for gestational age. [Verkauskiene: 2013]
  • Children with cerebral palsy may start into puberty earlier than typically developing children and take slightly longer to reach full pubertal development. [Worley: 2002]
Delayed pubertal development is often given less priority when a child has severe impairments; however, the lack of pubertal development may be a sign of underlying pathology that needs treatment (e.g., malnutrition, thyroid dysfunction, pituitary adenoma). In cases of hypogonadism, intervention will depend on the particular situation.
Pubertal development is essential for normal bone health in both males and females. Estrogen or testosterone deficiency places a child at risk for pathologic fractures so must be addressed.

Menstruation

Issues with hygiene, pain, mood changes, and behavior changes can occur in children with special health care needs. [Burke: 2010] See the American Academy of Pediatrics (AAP) guideline on Menstrual Management for Adolescents with Disabilities. [Quint: 2016]

Resources

Information & Support

For Professionals

Society for Endocrinology
Guidance on the diagnosis and management of hormone-related conditions.

Endocrinology Course Series (AAP)
CME about pubertal variations. Related topics in the series include normal and abnormal development and growth, thyroid disorders, and type 2 diabetes mellitus in children; American Academy of Pediatrics (registration fee required).

For Parents and Patients

A Parent's Guide to Puberty for Children with Disabilities (LEND) (PDF Document 7 KB)
A toolkit for parents to help adolescents with disabilities learn about puberty, personal hygiene, acceptable public behavior, and peer relations; Vanderbilt Leadership Education in Neurodevelopmental Disabilities.

Puberty in Children with Special Health Care Needs (Utah Family Voices) (PDF Document 59 KB)
Information and resources about puberty, sexuality, parental challenges, and the role of the clinician.

Male Puberty in the Developmentally Disabled (PDF Document 110 KB)
This is a 2006 transcription of a question and answer session between a behavior and development pediatrician and a child psychiatrist about both male and female puberty-related topics.

Child & Teen Health (Hormone Health Network)
Information about child and teen endocrine conditions, including disorders of sexual development, growth hormone deficiency, PCOS, obesity, diabetes, bone health, and Turner syndrome.

You and Your Hormones (Society for Endocrinology)
Education about hormones and endocrine disorders for patients, students, and teachers.

Patient Education

Delayed Puberty (Hormone Health Network) (PDF Document 912 KB)
Two-page printable patient handout addressing FAQs about delayed puberty.

Precocious (Early) Puberty (Hormone Health Network) (PDF Document 920 KB)
Two-page, printable patient education addressing questions about precocious puberty.

Tools

Early Breast Development in Girls
One-page flowchart for assessment and management of premature pubarche in girls; from Precocious Puberty and Normal Variant Puberty by Merih Berberoğlu.

Early Genital Development in Boys
One-page flowchart for assessment and management of premature pubarche in boys; from Precocious Puberty and Normal Variant Puberty by Merih Berberoğlu.

Services for Patients & Families Nationwide (NW)

For services not listed above, browse our Services categories or search our database.

* number of provider listings may vary by how states categorize services, whether providers are listed by organization or individual, how services are organized in the state, and other factors; Nationwide (NW) providers are generally limited to web-based services, provider locator services, and organizations that serve children from across the nation.

Helpful Articles

Berberoğlu M.
Precocious puberty and normal variant puberty: definition, etiology, diagnosis and current management.
J Clin Res Pediatr Endocrinol. 2009;1(4):164-74. PubMed abstract / Full Text
A review describing several aspects of the management of precocious puberty and variants in girls and boys. Provides algorithms for evaluation of early breast development in girls and early genital development in boys.

Diamantopoulos S, Bao Y.
Gynecomastia and premature thelarche: a guide for practitioners.
Pediatr Rev. 2007;28(9):e57-68. PubMed abstract
Educational article providing guidance for primary care practitioners to evaluate gynecomastia in young males and premature thelarche in young females when indicated.

Authors & Reviewers

Initial publication: May 2019;
Current Authors and Reviewers:
Author: Jennifer Goldman-Luthy, MD, MRP, FAAP
Reviewer: Allison Smego, MD
Authoring history
2008: first version: Lynne M. Kerr, MD, PhDA; Lisa Samson-Fang, MDA
AAuthor; CAContributing Author; SASenior Author; RReviewer

Page Bibliography

Berberoğlu M.
Precocious puberty and normal variant puberty: definition, etiology, diagnosis and current management.
J Clin Res Pediatr Endocrinol. 2009;1(4):164-74. PubMed abstract / Full Text
A review describing several aspects of the management of precocious puberty and variants in girls and boys. Provides algorithms for evaluation of early breast development in girls and early genital development in boys.

Burke LM, Kalpakjian CZ, Smith YR, Quint EH.
Gynecologic issues of adolescents with Down syndrome, autism, and cerebral palsy.
J Pediatr Adolesc Gynecol. 2010;23(1):11-5. PubMed abstract
A study to identify and compare the presenting complaints, treatments, and follow-up of adolescent girls with Down syndrome, autism, and cerebral palsy.

Diamantopoulos S, Bao Y.
Gynecomastia and premature thelarche: a guide for practitioners.
Pediatr Rev. 2007;28(9):e57-68. PubMed abstract
Educational article providing guidance for primary care practitioners to evaluate gynecomastia in young males and premature thelarche in young females when indicated.

Eugster EA, Hains D, DiMeglio LA.
Initial management of infants with intersex conditions in a tertiary care center: a cautionary tale.
J Pediatr Endocrinol Metab. 2006;19(2):191-2. PubMed abstract

Hillard, Paula Adams, editor.
Practical Pediatric and Adolescent Gynecology.
6th ed. Chidester [England]: Wiley Blackwell; 2013. 9781118538555
A practical book to provide a nuts and bolts approach to the gynecological examination and management of young girls and adolescents.

Kaplowitz P, Bloch C.
Evaluation and Referral of Children With Signs of Early Puberty.
Pediatrics. 2016;137(1). PubMed abstract
From the American Academy of Pediatrics Section on Endocrinology, this clinical report updates primary care physicians (PCPs) on what is known about the timing of puberty and to review the features of the benign normal variants of puberty and how they differ from the child with central precocious puberty (CPP) who might be considered for treatment.

Kleber M, Schwarz A, Reinehr T.
Obesity in children and adolescents: relationship to growth, pubarche, menarche, and voice break.
J Pediatr Endocrinol Metab. 2011;24(3-4):125-30. PubMed abstract
A German study examining the relationships between obesity, pubertal development, and height, concluding that despite obese children having taller heights until age 14, markers of puberty occur later than average weight peers.

Long D.
Precocious Puberty.
Pediatr Rev. 2015;36(7):319-21. PubMed abstract
Discussion of associations with earlier puberty include obesity, endocrine-disrupting chemicals (EDC), and intrauterine growth restriction, and other risk factors for precocious puberty.

Nakamoto J, Franklin S, Geffner M.
Pediatric Practice: Endocrinology.
Puberty Chapter ed. pp. 257-298: McGraw-Hill Companies, Inc.; 2010. 978-0071813174

Novello L, Speiser PW.
Premature Adrenarche.
Pediatr Ann. 2018;47(1):e7-e11. PubMed abstract
Describes the evaluation and management of a child with premature adrenarche.

Oberfield SE, Sopher AB, Gerken AT.
Approach to the girl with early onset of pubic hair.
J Clin Endocrinol Metab. 2011;96(6):1610-22. PubMed abstract / Full Text
This educational article targeting endocrinologists provides guidance about the evaluation and management of premature adrenarche including possible metabolic abnormalities.

Palmert MR, Dunkel L.
Clinical practice. Delayed puberty.
N Engl J Med. 2012;366(5):443-53. PubMed abstract
Discusses how to evaluate and treat delayed puberty and reviews evidence for the authors' recommendations.

Quint EH, O'Brien RF.
Menstrual Management for Adolescents With Disabilities.
Pediatrics. 2016;138(1). PubMed abstract
This policy from the American Academy of Pediatrics Committee on Adolescence and the North American Society for Pediatric and Adolescent Gynecology is designed to help guide pediatricians in assisting adolescent females with intellectual and/or physical disabilities and their families in making decisions related to successfully navigating menstruation.

Rosenfield RL, Lipton RB, Drum ML.
Thelarche, pubarche, and menarche attainment in children with normal and elevated body mass index.
Pediatrics. 2009;123(1):84-8. PubMed abstract
Investigation finding that adiposity and non-Hispanic black and Mexican American ethnicity are independently associated with earlier pubertal development in girls.

Verkauskiene R, Petraitiene I, Albertsson Wikland K.
Puberty in children born small for gestational age.
Horm Res Paediatr. 2013;80(2):69-77. PubMed abstract
Reviews information about the differences in timing and progression of puberty for children born small for gestational age versus average for gestational age, plus implications for health and possible underlying mechanisms.

Worley G, Houlihan CM, Herman-Giddens ME, O'Donnell ME, Conaway M, Stallings VA, Chumlea WC, Henderson RC, Fung EB, Rosenbaum PL, Samson-Fang L, Liptak GS, Calvert RE, Stevenson RD.
Secondary sexual characteristics in children with cerebral palsy and moderate to severe motor impairment: a cross-sectional survey.
Pediatrics. 2002;110(5):897-902. PubMed abstract
A study to compare the development of secondary sexual characteristics in children with cerebral palsy of moderate to severe motor impairment to children in the general population and to relate their sexual maturation to a measure of their body fat