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Puberty 

Puberty

Chapter:
Puberty
Author(s):

I. Banerjee

and P.E. Clayton

DOI:
10.1093/med/9780199204854.003.130902_update_001

July 30, 2015: This chapter has been re-evaluated and remains up-to-date. No changes have been necessary.

Update:

Physiology of puberty—expanded discussion.

Precocious puberty—discussion of GnRHa treatment.

Three new figures added.

Updated on 30 Nov 2011. The previous version of this content can be found here.
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date: 24 April 2017

Puberty is characterized by well-defined physical changes as a child moves from the prepubertal state through the stages of puberty to full sexual development. The outward signs usually develop over 3 to 5 years, with significant variation both in the age that puberty starts and the pace at which development proceeds.

The events that lead to the triggering of puberty remain uncertain, but clinical presentations may arise because the process is abnormally early (precocious puberty) or abnormally late (delayed or absent puberty). A number of variants of the normal processes may also present for clinical assessment, e.g. premature isolated thelarche (breast development) or adrenarche (pubic and axillary hair development), which do not require treatment.

Precocious puberty

Aetiology—this may be either (1) central gonadotropin dependent—due to congenital or acquired central nervous system abnormalities, prolonged exposure to sex steroids, ectopic human chorionic gonadotropin (hCG), prolonged hypothyroidism; or (2) peripheral gonadotropin independent—due to ovarian or testicular overactivity, exogenous sex steroids.

Investigation—this requires measurement of sex steroids, thyroid function, a gonadotropin-releasing hormone (GnRH) provocation test with additional pituitary function testing, usually combined with radiological imaging of the pituitary gland. A nondominant wrist radiograph for determination of bone age (advanced in precocious puberty) helps to estimate the extent of precocity and the possible impact on growth prognosis. In girls, a pelvic ultrasound scan is required to determine ovarian and uterine dimensions and hence estimate the degree of pubertal maturation.

Management—the goals are to stop pubertal progression, improve final height prognosis, reduce pubertal mood swings and behavioural changes, and diminish psychological distress. When possible any underlying cause should be treated. The treatment of choice for central precocious puberty is with a GnRH partial agonist.

Delayed or absent puberty

Aetiology—may be due to (1) hypogonadotropic hypogonadism—with constitutional delay much the commonest cause of delayed/absent puberty; can be caused by a wide range of central nervous system syndromes or chronic medical conditions; or (2) hypergonadotropic hypogonadism—due to gonadal failure, including chromosomal abnormalities (e.g. Turner’s syndrome, Klinefelter’s syndrome).

Investigation and management—investigation is largely as for precocious puberty. Treatment goals are to induce puberty, accelerate height gain, and improve self-confidence. When possible any underlying cause should be treated. Hormone replacement therapy is effective when used judiciously.

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