What Primary Care Providers Need to Know About Precocious Puberty

PCPs are the first line of defense in recognizing and referring possible cases of precocious puberty to endocrinologists for formal diagnosis and treatment.

Precocious puberty — signs of the onset of puberty before the age of 8 in girls and 9 in boys — affects less than 1% of children in the United States, and is most common among females, children with obesity and African Americans.

Here, our experts discuss the basics about identification and management of this rare but highly treatable condition that primary care providers (PCPs) everywhere should know about. As members of Pediatric Endocrine Society’s Drugs and Therapeutics Committee, they surveyed pediatric endocrinologists across the country on the use of precocious puberty treatment modalities and monitoring practices, and the survey results were recently published.

Meet the Experts

Manmohan Kamboj, MD, division and section chief of the Division of Endocrinology at Nationwide Children’s Hospital; professor of Pediatrics at The Ohio State University College of Medicine

Amit Lahoti, MD, attending physician in the Division of Pediatric Endocrinology and program director for the Pediatric Endocrinology Fellowship at Nationwide Children’s; associate professor of Pediatrics at The Ohio State University College of Medicine

Q: How can PCPs identify potential precocious puberty in their patients?

Dr. Lahoti: PCPs are accustomed to watching for signs of puberty, but this should begin with asking questions from parents about pubertal changes, with regular pubertal or genital exams beginning at least about age 6 years. The first sign of puberty in girls is when breasts start growing, not when they have their first period. If a referral to endocrinology is delayed until a girl has a period, that is actually pretty late into development to begin treatment. In boys, the initial sign is an increase in the size of their testes. Whether puberty begins too early or too late, appropriate treatment can be offered.

Dr. Kamboj: Yes, PCPs need to keep an eye out for onset of pubertal features and be aware of normative ranges for the onset of puberty for boys and girls, conduct regular physical exams, and watch their growth charts. Early detection of precocious puberty and proactive referral to endocrinology can make a big difference in a child’s outcomes in these cases.

Q: What are the health repercussions for children if treatment for precocious puberty are delayed?

Dr. Lahoti: There are definitely some health implications for children who start puberty early and continue to progress. They are then the only one in their age group going through those changes. Even at the right age for puberty, it’s difficult to deal with from an emotional and physical standpoint—let alone trying to deal with it when a child is not mature enough to understand what is going on yet. It’s also challenging for their parents. Furthermore, puberty is a time of significant height growth, but appropriate timing of the growth spurt is key to achieving the optimal adult height. If they grow early and then finish early, their final height outcome is suboptimal compared to what it would be with average-timed puberty.

Dr. Kamboj: In addition, some cases of precocious puberty have a pathological cause like a brain tumor. If one is present and you miss precocious puberty, you miss that potential underlying cause, which can be harmful. And then obviously if you’re trying to achieve pubertal suppression, the sooner you pick it up, diagnose it and start treatment, the better for all these outcomes in regards to height potential, psychosocial impact, etc.

Q: What types of tests are required for diagnosis of precocious puberty?

Dr. Lahoti: When we initially suspect precocious puberty it’s often fairly evident from a physical exam, but we may also do baseline blood tests to measure sex hormones and gonadotropins and a hand X-ray to assess their skeletal maturation. At times the clinical exam is not clearcut, so we may do follow-up blood tests to see if the pituitary gland is ready to go through puberty. Once the diagnosis is confirmed, we may also do an MRI of the brain to determine whether a tumor is affecting the pituitary gland and causing early puberty. The risk of this type of underlying cause is low, but more common in very young patients (younger than 6 years) and in boys.

Q: What treatment options are available for children experiencing precocious puberty?

Dr. Lahoti: Gonadotropin releasing hormone analogs (GnRHas) are the mainstay treatment for precocious puberty. Some formulations have been around for decades, but several options have been approved just within the past few years. The newer ones have been shown to be equally efficacious in managing early puberty and may offer improved convenience for patient families, such as less-frequent visits to the clinic and less-frequent dosing.

Dr. Kamboj: With these new medications, we now have a wide range of suppressive therapeutic options to use. The two preparations that came out recently can be administered every 6 months, and one of them can be delivered subcutaneously instead of intramuscularly. An option many patients currently use is delivered once every 3 months, and there is also an option for a yearly implant, which requires a simple surgical procedure. However, insurance plans don’t always cover all options, making some preparations much more expensive than others for patient families. We typically focus on what is covered under their insurance and try to find the best fit for them after discussing their preferences and budget.

Q: What monitoring and follow-up should families expect once treatment has begun?

Dr. Kamboj: Each endocrinologist develops their own method with experience, as there is not much formal guidance for precocious puberty. If the GnRHa dose is adequately picked, there will be effective puberty suppression, so we don’t often see treatment failure. However, we do follow patients through clinic visits for growth and do blood work as needed to stay alert to possible treatment failure, and to talk with families about when to stop treatment.

Dr. Lahoti: We also perform X-ray the bones of the hand (for bone age) to see if the bones are still maturing too quickly.

Q: What long-term outcomes can children expect if precocious puberty is identified and treated early?

Dr. Lahoti: If families choose to treat precocious puberty with suppression, the drugs are very effective. If we start early enough, we can postpone puberty until the child is at a normal age for puberty, easing that process for the family emotionally and helping the child reach their optimal post-pubertal height.

Dr. Kamboj: Children with earlier treatment have better outcomes, so we definitely do want PCPs to be watchful and refer early if they suspect something.

Reference:

Breidbart E, Ilkowitz J, Regelmann MO, Ashraf AP, Gourgari E, Kamboj MK, Kohn B, Lahoti A, Mehta S, Miller R, Raman V, Khokhar A, Brar PC. Precocious Puberty and GnRH Analogs: Current Treatment Practices and Perspectives among US Pediatric Endocrinologists. Hormone Research in Paediatrics. 2024 May 8:1-12. doi: 10.1159/000539011. Epub ahead of print.

Image credits: Adobe Stock (header); Nationwide Children’s (portraits)