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Delayed puberty
Other Resources UpToDate PubMed

Delayed puberty

Contributors: Eric Ingerowski MD, FAAP, Paritosh Prasad MD
Other Resources UpToDate PubMed

Synopsis

Puberty is the complex process of physical changes that occur in an adolescent's body that result in adult secondary sexual characteristics occurring from the maturation of the hypothalamic-pituitary-gonadal (HPG) axis. Onset of puberty is considered delayed when the first physical pubertal changes (secondary sexual characteristics) do not appear by the normally expected age: breast development in girls by age 12-13 years and testicular enlargement in boys by age 14 years. Pubertal delay also encompasses abnormally slow or incomplete progression of expected pubertal changes. For female patients, this is failure to menstruate by age 15-16 years, or more than 3-4 years between thelarche and menarche. For male patients, this is more than 5 years between initial testicular enlargement and completion of puberty. Pubertal delay, which affects 2%-4% of the adolescent population, is a common cause of referral to a pediatric endocrinologist.

There are numerous diverse etiologies for pubertal delay. The causes can be divided broadly into 3 categories: hypogonadotropic hypogonadism (permanent or transient), hypergonadotropic hypogonadism, and other causes.

Common causes in female patients:
Common causes in male patients:
  • Constitutional growth delay is the most common cause (60%) and includes delayed bone age often correlating with current height, short stature, or falling height percentage for age (often called a "late bloomer").
  • Gonadal failure (hypergonadotropic hypogonadism) – Low testosterone and increased LH, FSH, and GnRH that results from infection (eg, mumps orchitis), testicular torsion, cryptorchidism, or Klinefelter syndrome.
  • Chronic disease – Thyroid disease, celiac disease, inflammatory bowel disease, cystic fibrosis, sickle cell disease, or severe persistent asthma.
  • Hypopituitarism (hypogonadotropic hypogonadism) – Usually associated with growth failure.
  • Kallmann syndrome – Associated with anosmia, brain tumor, Prader-Willi syndrome, Laurence-Moon-Biedl syndrome, CHARGE syndrome, and Gordon syndrome.

Codes

ICD10CM:
E30.0 – Delayed puberty

SNOMEDCT:
400003000 – Delayed puberty

Look For

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

While there is a large range of conditions to consider in the differential for the cause of delayed puberty, the diagnosis of delayed puberty is usually fairly clear.

Conditions such as hydrometrocolpos may be confused for failure to menstruate.

Best Tests

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Management Pearls

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Therapy

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References

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Last Updated:11/21/2021
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Delayed puberty
Delayed puberty (Male) : Human growth hormone level decreased
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