Pubertal Delay
Daniel H. Reirden, MDKenneth R. Ginsburg, MD
Pubertal Delay - BASICS
Pubertal Delay - description
- Pubertal delay is the absence of secondary sexual characteristics by an age >2–2.5 standard deviations (SD) of the population mean. In the US, this is considered to be ~13 years of age for girls and 14 years of age for boys.
- Pubertal delay may also occur if progression through puberty stalls or takes longer than 2.5 SD from the mean time of the population.
- ~2.5% of healthy teens will meet criteria for pubertal delay.
- Most cases of pubertal delay can be ascribed to constitutional delay of growth and maturity (CDGM); however, missing the presentation of an underlying disease should be avoided.
- CDGM:
- Likely an extreme normal variant of pubertal development
- Children usually grow at or near the 5% for most of childhood, enter puberty late, and usually reach normal adult height.
- More common in boys than in girls
- Strong familial component
Pubertal Delay - general prevention
- Begin conversations about pubertal development with both patients and parents in late childhood. Realistic expectations regarding timing can avoid undue stress and unnecessary testing.
- Examination of growth charts at routine visits can alert providers to potential problems or changes in growth.
- Children with chronic health conditions should receive counseling regarding the effect their illness may have on their puberty. For example, children with cystic fibrosis generally have delayed puberty.
Pubertal Delay - epidemiology
- By definition, delayed puberty will occur in 2.5% of the population.
- CDGM explains 90–95% of pubertal delay.
- >60% of patients with constitutional delay of puberty have a positive family history.
Pubertal Delay - risk factors
Pubertal Delay - genetics
- Pubertal timing is highly influenced by genetic factors. This is evidenced by high correlation within ethnic groups, families, and monozygotic twins.
- 50–80% of variation in timing can be explained by genetics
- Pubertal delay as a result of an underlying medical condition is influenced by the genetics of each disorder.
Pubertal Delay - etiology
Deficiency of gonadal sex steroids, estrogen in girls or testosterone in boys, is the underlying cause of delayed puberty. Several pathways to the common etiology exist:
- Hypogonadotrophic hypogonadism: Delayed puberty as a result of a deficiency in secretion of gonadotropin-releasing hormone (GnRH):
- Functional: Delay or transient decrease in GnRH secretion. Describes CDGM, hypothyroidism, chronic illness
- Permanent: Irreversible deficiency of GnRH, such as in Kallman syndrome or panhypopituitarism
- Hypergonadotrophic hypogonadism: Generally failure of the gonad. For example, Turner syndrome, Klinefelter syndrome, anorchia
Pubertal Delay - DIAGNOSIS
Pubertal Delay - signs & symptoms
Pubertal Delay - history
- A thorough history of past medical conditions, past growth patterns, and family history is essential.
- A complete review of systems to uncover an underlying chronic disorder, such as inflammatory bowel disease, is necessary.
- Request and examine a long-term growth chart:
- CDGM will generally exhibit a consistent low percentile of growth throughout childhood.
- Gonadotropin or gonadal causes will generally present with normal growth in childhood, but no increase in growth during the expected pubertal spurt.
- Obtain history of progression of secondary sex characteristics:
- Adolescents with complete gonadal or gonadotropin deficiencies will not enter puberty unless initiated by exogenous or adrenal hormones, whereas those with constitutional delay will progress at a normal rate after initiation of puberty.
- Adolescents with partial deficiencies may reach pubarche at a normal time, but will fail to progress.
- Medication history may be useful (e.g., use of glucocorticoids or cytotoxins).
- Assess nutrition and socioeconomic history: Rule out chronic malnutrition or eating disorder.
Pubertal Delay - physical exam
A thorough physical exam is essential. Pay particular attention to the following elements:
- Thyroid examination
- Neurologic and fundoscopic examinations to check for intracranial pathology
- Genital examination and sexual maturity rating (Tanner staging):
- External examination for all patients
- Breast exam for girls
- Pubic hair
- Penis/Testicle exam for boys
- Internal gynecologic examination for girls with amenorrhea may be indicated.
- The 1st sign of puberty in boys is when testicular size is >2.5 cm. Find which one of your finger segments is ~ 2.5 cm, and use it as a gross measure.
- As a means of screening size, using a finger is more subtle than using an orchidometer. However, when a clinician needs to follow pubertal progression closely, an orchidometer is necessary to establish testicular size accurately.
Pubertal Delay - tests
Pubertal Delay - lab
- Initial workup: Routine screening tests for chronic or systemic disease:
- CBC
- Urinalysis
- ESR
- Electrolytes, renal function
- Thyroid-stimulating hormone
- Gonadotropin levels, follicle-stimulating hormone (FSH), and luteinizing hormone (LH)
- Low levels suggest prepuberty or hypothalamic-pituitary failure
- High levels suggest gonadal failure or absence
- If hypergonadotropic, obtain karyotype:
- XX is suggestive of ovarian failure.
- XO or abnormal X could be indicative of Turner syndrome or gonadal dysgenesis.
- If all of the above studies are normal, and there is no evidence to support constitutional delay, re-evaluation for cryptic chronic illness, substance abuse, eating disorder, or ongoing psychosocial stress should occur until puberty progresses or the underlying cause of delay becomes clear.
Pubertal Delay - imaging
Bone age: Generally, an essential step in primary workup:
- Plain film of the epiphyseal growth centers in the hand. Epiphyses change in response to growth hormone, thyroxine, and steroids of adrenal or gonadal origin.
- Comparison to chronologic age can help to differentiate CDGM from organic disorders. A bone age that is >2 years delayed from chronologic age is consistent with CDGM but not specific, and can be found with any hypogonadotropic cause of delayed puberty.
Pelvic ultrasound:
- Can be useful in locating intra-abdominal testicular structures or in determination of the presence or absence of Müllerian structures
- Indicated when testes cannot be detected in patients with a male phenotype or when Müllerian structures cannot be confirmed on physical examination in patients with a female phenotype
CT or MRI of the head: Useful in assessing pituitary or hypothalamic structures, mass lesions, pathologic calcifications, or increased intracranial pressure if a central cause of delayed puberty is suspected
Pubertal Delay - differencial diagnosis
- Increased serum gonadotropins (LH/FSH):
- Chromosomal abnormalities
- Turner syndrome (gonadal dysgenesis)
- Klinefelter syndrome
- Bilateral gonadal failure
- Cytotoxic therapy
- Castration
- Irradiation
- Primary testicular failure
- Vanishing testes syndrome
- Trauma
- Normal or low serum gonadotropins:
- CDGM
- Hypothalamic dysfunction
- Chronic illness
- Strenuous exercise
- Malnutrition
- Eating disorders
- CNS tumors
- Hypopituitarism
- Panhypopituitarism
- Kallman syndrome
- Hypothyroidism
- Hyperprolactinemia
- Pituitary adenoma
- Drug associated
- No test can make a definitive diagnosis of constitutional delay.
- Consultation with a specialist or experienced laboratory personnel is recommended before obtaining pituitary stimulation tests, as they may require special conditions.
Pubertal Delay - TREATMENT
Pubertal Delay - general measures
Most patients with pubertal delay do not require drugs, but all need psychologic and social support.
Pubertal Delay - medication
- In cases of presumed constitutional delay, hormones can be used to affect hypothalamic maturation, thereby initiating endogenous puberty.
- Referral to an endocrinologist or adolescent specialist is usually recommended before the initiation of hormonal therapy to aid in diagnosis and management.
Pubertal Delay - FOLLOW UP
In cases of permanent hypogonadism, because of gonadal absence, failure, or gonadotropin deficiency, long-term hormonal therapy is necessary.
Pubertal Delay - bibliography
- Nathan BM, Palmert MR. Regulation and disorders of pubertal timing. Endocrinol Metab Clin N Am. 2005;34:617–641.
- Pinyerd B, Zipf WB. Puberty—timing is everything. J Pediatr Nurs. 2005;20:75–82.
- Pletcher JR, Slap GB. Menstrual disorders: Amenorrhea. Pediatr Clin North Am. 1999;46:505–518.
- Reiter EO, Lee PA. Delayed puberty. Adolesc Med State Art Rev. 2002;13:101–18, vii.
- Rosen DS, Foster C. Delayed puberty. Pediatr Rev. 2001;22:309–315.
Pubertal Delay - CODES
Pubertal Delay - icd9
259.0 Delayed puberty
Pubertal Delay - FAQ
- Q: As ~5% of pubertal delay is constitutional or physiologic, when can I avoid an expensive workup and just observe the patient?
- A: Unfortunately, only the spontaneous onset of puberty confirms the diagnosis of constitutional delay. Anxiety from delayed puberty may preclude waiting. To make a presumptive diagnosis of constitutional delay, pathology must be ruled out:
Physical examination, including genital anatomy and smell sense, must be normal.
There should be no signs or symptoms consistent with chronic disease.
History, including nutritional history and review of systems, must be negative.
Screening blood work must be negative.
Growth must progress ≥3.7 cm/yr.
Bone age must be delayed ≤4.0 years compared with chronologic age. - Q: When should patients with pubertal delay be seen by an endocrinologist or adolescent specialist?
- A: Often, the initial workup of pubertal delay can be completed by the primary care provider. For complex stimulation tests, or if help is needed in interpreting test results, referral to an experienced specialist is warranted. If a specific chronic disease is suspected as the underlying cause, then referral should be made to the appropriate subspecialist.
- Q: Do racial differences affect pubertal onset and development?
- A: Several recent studies indicate that the mean ages for onset of breast development and menarche are younger for African American females than for Caucasian females. These differences are rarely, if ever, clinically relevant.
Book Source Details
- Book Title: The 5-Minute Pediatric Consult
- Author(s): M. William Schwartz MD; et al.
- Year of Publication: 2008
- Copyright Details: The 5-Minute Pediatric Consult, Copyright © 2008 Lippincott Williams & Wilkins.
Other Book Chapters Related to Delayed puberty
Read excerpts from these other book chapters related to Delayed puberty:
Copyright Details: The 5-Minute Pediatric Consult, Copyright © 2008 Williams & Wilkins.
More About Causes of Delayed puberty
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More About This Book:
Title: The 5-Minute Pediatric Consult
Authors: M. William Schwartz MD; et al.
Publisher: Lippincott Williams & Wilkins
Copyright: 2008
ISBN: 0-7817-7577-9
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