Precocious puberty: An overview of pathogenesis, clinical presentation, and management

Precocious puberty, defined as the onset of secondary sexual characteristics at 2.5 SD below the mean age of onset of puberty (8 years in girls and 9 years in boys) is a complex clinical condition that has considerable physiological and psychological consequences on children and their parents. There are two types - central (gonadotrophin-dependent) and peripheral (gonadotrophin independent). Among the causes of central precocious puberty are various genetic mutations, syndromes and central nervous system disorders that prematurely activate the hypothalamic pituitary gonadal axis leading to the secretion of sex steroids that induced pubertal changes. Peripheral precocious puberty is commonly secondary to isolated sources of sex steroids such as tumours, exogenous steroids or as part of the McCune Albright syndrome. Long-term consequences of precocious puberty especially the central type include short stature and psychological problems. Children presenting with features of precocious puberty (PP) must be thoroughly assessed starting with a detailed history, physical examination and initiation of appropriate investigations followed by categorisation of the PP. A multidisciplinary team (consisting of a paediatrician an adolescent gynaecologist, a paediatric endocrinologist, a geneticist and a clinical psychologist) is essential for management. Treatment should aim at arresting or reversing the pubertal changes, counselling and support both for the children and their families and, addressing the implications for genetic causes for the family (if any). Untreated, precocious puberty may have considerable negative psychological and medical impact on the child.