Pathology is key in diagnosing peripheral precocious puberty

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

In some cases, however, full initiation of puberty before the normal age range can signal other problems.

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

Some possible causes of this condition include¹:

• Congenital adrenal hyperplasia
• McCune-Albright syndrome
• Gonadal tumors
• Adrenal tumors
• Other hormone secreting tumors or cysts
• Familial male-limited precocious puberty (testitoxicosis)
• Exogenous exposure to sex steroids
• Van Wyk and Grumbach syndrome
• Pseudoprecocious puberty found with profound 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 in more than one way. It can be isosexual from hormone exposure consistent with biologic sex, or contrasexual from hormone exposure not consistent with biologic sex. Some sources of these exposures could 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 the activation of the HPG axis, or when there is penile growth with or without the development of pubic hair and without testicular enlargement. Kutney said normally you would not see significant virilization of the external genitalia without testicular enlargement, so if this is the case, it’s usually a red flag to some sort of pathology.

Early puberty—whether central or peripheral—can lead to a number of complications including reduced final adult height as well as emotional or social problems caused by developing before peers. Where the big difference lies between central and peripheral precocious puberty is in the way each is treated. Central precocious puberty can be treated with medications to reduce hormone levels and stop puberty if it occurs significantly early. With peripheral precocious puberty, treatment is focused on eliminating the source of the exposure to sex steroids. This may involve treating underlying conditions with medications, removing tumors with surgery, or eliminating exposure to other hormone products like creams or supplements.¹

Reference

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