This page is dedicated to the Precocious Puberty research study, one of 57 studies supported by the Boston Children’s Rare Disease Collaborative (CRDC). For more information about the CRDC, please visit our home page. Established in 2018, the CRDC supports pediatric rare disease research and provides families with genetic diagnoses that enable personalized treatments, including precision medicine and targeted therapies.
The Precocious Puberty research study, established at Boston Children’s in 2022, is led by Dr. Stephanie Roberts and has already enrolled 40 patients and their families.
Disease information
Precocious puberty is a group of disorders that affect hormones and cause children to develop early sexual characteristics; in girls, this means before age 8, and in boys, before age 9.
It is estimated that 50-80% of individuals with precocious puberty have an underlying genetic cause for their condition. Learn more about precocious puberty at Boston Children’s.
Key outcomes
To date, 9% of patients have received diagnostic results leading to changes in treatment plans and an additional 23% have candidate findings that are being further researched.
Participate in research
Physicians may refer their patients with precocious puberty to Dr. Roberts. Once study eligibility is confirmed, a research coordinator will reach out to the family to consent and enroll them. Read more about Dr. Robert’s research on Dr. Roberts' research profile.
Patient care
Patients and their families with precocious puberty can be seen by an expert multidisciplinary team in the Division of Endocrinology at Boston Children’s.
Patient stories
In 2023, a 7-year-old girl was evaluated for early breast development, which started at the age of 6. Her medical history, physical examination, and laboratory tests confirmed a diagnosis of central precocious puberty. Her diagnosis was classified as idiopathic as a cause was not identified. However, as part of this research project, genomic sequencing led to the discovery of a variant in a gene called Makorin Ring Finger Protein 3, which is the most common gene implicated in central precocious puberty. This diagnosis gave the family genetic answers to why their child developed precocious puberty and led to the counseling of other family members who might be at risk. The patient began treatment that pauses the early puberty until she is of an appropriate age to go through puberty. This case exemplifies the importance of genetic testing as the most common etiology of central precocious puberty is cited as idiopathic, and we now understand that a genomic diagnosis can be made for certain cases.
Investigator
Division
Notable publications by investigators
Disease support organizations
Pediatric Endocrine Society
Pediatric Endocrine Society (PES) is a nonprofit organization whos mission is to advance and promote the endocrine health and well-being of children and adolescents.
The MAGIC Foundation
The MAGIC Foundation is a charitable nonprofit organization created to provide support services for the families of children afflicted with a wide variety of chronic and/or critical disorders, syndromes and diseases that affect a child's growth.