Since puberty is a long ongoing developmental process with significant individual and population differences in timing, the definition of delayed puberty for a given individual needs to rest on simple, though arbitrary criteria based on epidemiological data. Although several genes involved in the hypothalamic-pituitary-gonadal maturation cascade have been characterized recently from familial or sporadic cases of primitive isolated hypogonadotropic hypogonadism, many genes regulating puberty onset remain undetermined. In case of delayed puberty and/or primary amenorrhea, a complete clinical examination including a detailed past history will evaluate the development of secondary sex characteristics, verify the association with a growth delay and look for specific indicative features pertaining to the etiological diagnosis. This clinical check-up completed if necessary with biological, ultrasonographic, radiological and genetic investigations will try to determine which girls will have a permanent sexual infantilism of gonadal, hypophyseal or hypothalamic origin, which girls will undergo spontaneous but delayed puberty and which girls have primary amenorrhea with developed secondary sex characteristics. Therapeutic attitude will have to integrate etiological factors, statural prognosis, bone mass preservation and psychological factors.
Copyright © 2012 S. Karger AG, Basel.