Disorders of Sexual Maturation

Abstract

Puberty is a dynamic period of physical growth, sexual maturation, and psychosocial achievement when an individual first attains fertility and is capable of reproduction. Physical changes that occur during puberty include somatic growth, primary sexual organ development, and the appearance of secondary sexual characteristics. The age of onset varies as a function of sex, ethnicity, health status, genetics, nutrition, and activity level. Puberty is initiated by hormonal changes triggered by the hypothalamus. Sexual maturation can occur at an early age, at the expected time, or late. In clinical practice, it is important to recognize when variations are normal and when referral should be made for further evaluation for delayed growth and sexual maturation. Constitutional delay is a non-pathological variation within normal growth parameters but can cause anxiety for children and parents. Pathologic causes of delayed sexual maturation include hypopituitarism, involvement of the hypothalamus, deficiency of gonadotropin-releasing factor, chronic disease, handicapping disorders, undernutrition, chronic anemia, growth hormone deficiency, and primary gonadal failure. The Tanner criteria should be used in assessing sexual maturation, and bone age evaluation for skeletal growth. Abnormal puberty patterns, investigations, assessment, and management are reviewed.