Pathology is key in diagnosing peripheral precocious puberty

There are a number of reasons why a child may show early signs of puberty. Pubic hair may begin to develop without puberty fully onset or, in rare cases, puberty may even begin earlier than the normal range, which is central precocious puberty.

However, in some cases, a full onset of puberty before normal age can indicate other problems.

Peripheral precocious puberty develops when the sexual maturation process begins without the normal activation of the hypothalamic-pituitary-gonadal (HPG) axis. In these cases, puberty may be caused by the presence of sex steroids such as estradiol or testosterone from internal sources that do not include the activation of the HPG axis, or external sources.

Some possible causes of this condition include1:

Congenital adrenal hyperplasiaMcCune-Albright syndromeGonadal tumorsAdrenal tumorsOther hormone-secreting tumors or cystsFamily male limited precocious puberty (testitoxicosis)Exogenous sex steroid exposureVan Wyk and Grumbach syndromePseudo-precocious puberty found with deep primary hypothyroidism

The treatment of this type of early puberty depends entirely on the underlying cause. Katherine Kutney, MD, a pediatric endocrinologist at Rainbow Babies and Children’s Hospital in Cleveland, Ohio, said it’s important to note that peripheral precocious puberty can manifest itself in more ways than one. It can be isosexual through hormone exposure that matches biological sex, or contrasexual through exposure to hormones that don’t match biological sex. Some sources of this exposure may include the use of testosterone or estrogen creams or adrenal tumor-producing androgens or estrogens.

Diagnosis of peripheral precocious puberty can be made when there is breast development that occurs without HPG axis activation, or when there is penile growth with or without pubic hair development and without testicular enlargement. Kutney said you wouldn’t normally see significant virilization of the external genitalia without enlargement of the testicles, so if this is the case, it’s usually a red flag for some kind of pathology.

Early puberty, both central and peripheral, can lead to a number of complications, including reduced final adult height, as well as emotional or social problems caused by developing ahead of peers. Where the major difference between central and peripheral precocious puberty lies is how each is treated. Central precocious puberty can be treated with medications to lower hormone levels and stop puberty if it occurs significantly early. In peripheral precocious puberty, treatment is aimed at eliminating the source of sex steroid exposure. This may involve treating underlying conditions with drugs, removing tumors with surgery, or eliminating exposure to other hormone products such as creams or supplements.1


1. Kota AS, Ejaz S. Precocious puberty. Stat Pearls Publishing. Updated July 25, 2021.

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