Highlights
- •Delayed pubertal onset is a common reason for endocrine consultation.
- •No gold standard test exists to differentiate self-limited constitutional delay of puberty and abiding hypogonadism (congenital hypogonadotropic hypogonadism).
- •Constitutional delay of puberty and congenital hypogonadotropic hypogonadism can have significant psychosocial sequelae.
- •Identifying red flags of congenital hypogonadotropic hypogonadism can accelerate diagnosis and timely initiation of treatment to improve health and well-being outcomes.
Abstract
Delayed puberty affects between 2% and 3% of the population and is a common reason
for seeking endocrine consultation. Evaluation involves ruling out pathologic functional
conditions disrupting puberty. Adolescents with constitutional delay of puberty (CDP)
will initiate puberty spontaneously, albeit later than peers. However, some individuals
have congenital hypogonadotropic hypogonadism (CHH) and will neither initiate nor
progress in pubertal development. No single gold standard test differentiates CDP
from CHH, posing diagnostic challenges for clinicians. This report provides an overview
of normal/disrupted puberty, highlights clinical “red flags” facilitating identification
of CHH, and emphasizes comprehensive and interprofessional approaches to care.
Keywords
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Biography
Both authors are at Massachusetts General Hospital, Harvard Center for Reproductive Medicine, Boston. Andrew A. Dwyer, PhD, FNP-BC, is also an associate professor at the William F. Connell School of Nursing, Boston, College, Chestnut Hill, MA, and can be contacted at [email protected]
Biography
Yee-ming Chan, MD, PhD, is also with the Division of Endocrinology, Department of Pediatrics, Boston Children's Hospital, and the Department of Pediatrics, Harvard Medical School, Boston, MA.
Article info
Publication history
Published online: October 22, 2022
Publication stage
In Press Corrected ProofFootnotes
Funding: This work was supported by the National Institutes of Health National Center for Advancing Translational Sciences (1R03TR003533-01) and the National Institutes of Health Eunice Kennedy Shriver National Institute of Child Health and Human Development (1P50HD104224-01) “Massachusetts General Hospital – Harvard Center for Reproductive Medicine.”
Dr. Chan has received royalties from UpToDate for coauthoring topics on puberty. In compliance with standard ethical guidelines, the authors report no relationships with business or industry that would pose a conflict of interest.
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