The diagnosis of true delayed puberty is often complicated by the wide variation in normal sexual development and its relative rarity. Etiologies of delayed puberty include primary hypergonadotropic and hypogonadotropic hypogonadism, as well as secondary anatomic and functional abnormalities. Determination of whether the delay is physiologic (constitutional growth delay) or pathologic is critical in mitigating long-term consequences for these young women. Since diagnosis is often made by exclusion of other conditions, the physician’s role in taking a history and in examination is important to identify familial traits, physical characteristics, and behaviors such as extreme exercise associated with delayed pubertal onset.
This educational activity focuses on the causes of delayed puberty and provides clinicians with guidance on taking the patient’s history, performing a physical examination and selection of appropriate tests needed for diagnosis. Treatment and indications for referral, as well as patient and family counseling recommendations for prognosis, follow-up and implications for reproduction are also provided.