Constitutional delay of growth and puberty

Abstract

Girls with constitutional growth delay typically present in childhood with short stature and/or early adolescence with delayed puberty. Candidate genes producing the picture of short stature and delayed puberty with normal final height are being elucidated but are generally not sought in evaluation outside of research studies. If a family history of delayed puberty is known, review of growth history is reassuring, and bone age radiograph is delayed, diagnosis may be predicted and appropriate counseling given. In other cases in which family history is unknown or negative, evaluation for hypergonadotropic hypogonadism and hypogonadotropic hypogonadism must be undertaken. Although therapeutic options exist, most girls with constitutional delay will not require intervention. This chapter will examine the genetics and presentation of constitutional delay of puberty and growth, the differential diagnosis, therapeutic options, and prognosis for girls with this diagnosis.