Although common, delayed puberty can be distressing to patients and families. Careful assessment is necessary to ensure appropriate physical and social development in patients that require intervention to reach pubertal milestones and achieve optimal growth. Most pubertal delay is from lack of activation of the hypothalamic-pituitary-gonadal axis which then results in a functional or physiologic GnRH deficiency. The delay may be temporary or permanent. Constitutional delay (CDGP), also referred to as self-limited delayed puberty (DP), describes children on the extreme end of normal pubertal timing and is the most common cause of delayed puberty, representing about one third of cases. Hypergonadotropic hypogonadism (primary hypogonadism) results from a failure of the gonad itself, and hypogonadotropic hypogonadism (secondary hypogonadism) results from a failure of the hypothalamic-pituitary axis, which is usually caused by another process, often systemic. Diagnosis is based on history and examination. Treatment is based on the underlying cause of pubertal delay and may include hormone replacement. Involving a pediatric endocrinologist should be considered. Appropriate counseling and ongoing support are important for all patients and families, regardless of underlying disease process.
This review contains 4 figures, 4 tables, and 32 references.
Keywords: puberty, delayed puberty, hypogonadism, hypogonadotropic hypogonadism, hypergonadotropic hypogonadism, menarche, thelarche, constitutional delay and growth in puberty, Turner syndrome
Mutational analysis of TAC3 and TACR3 genes in patients with idiopathic central pubertal disorders
