craniopharyngioma, prolactinoma, germinoma, glioma) can disrupt the communication between the hypothalamus and the pituitary. Pituitary tumors, especially prolactinomas, can increase the level of dopamine causing an inhibiting effect to the HPG axis. Hypothalamic disorders include Prader-Willi syndrome and Kallmann syndrome, but the most common cause of hypogonadotropic hypogonadism is a functional deficiency in the hormone regulator produced by the hypothalamus, the gonadotropin-releasing hormone or GnRH. Diagnosis
Pediatric endocrinologists are the physicians with the most training and experience evaluating delayed puberty. A complete medical history, review of systems, growth pattern, and physical examination as well as laboratory testing and imaging will reveal most of the systemic diseases and conditions capable of arresting development or delaying puberty, as well as providing clues to some of the recognizable syndromes affecting the reproductive system.Timely medical assessment is a necessity since as many as half of girls with delayed puberty have an underlying pathology. History and physical
Constitutional and physiologic delay
Children with constitutional delay are reported to be shorter than their peers, lacking a growth spurt, and having an overall smaller build. Their growth has begun to slow down years before the expected growth spurt secondary to puberty, which helps differentiate a constitutional delay from an HPG-axis related disorder. A complete family history with the ages at which parents hit the pubertal milestones can also provide a reference point for the expected age of puberty.
Delayed puberty is when a person lacks or has incomplete development of specific sexual characteristics past the usual age of onset of puberty. The person may have no physical or hormonal signs that puberty has begun. In the United States, girls are considered to have delayed puberty if they lack breast development by age 13 or have not started menstruating by age 15. Boys are considered to have delayed puberty if they lack enlargement of the testicles by age 14. Delayed puberty affects about 2% of adolescents.Most commonly, puberty may be delayed for several years and still occur normally, in which case it is considered constitutional delay of growth and puberty, a common variation of healthy physical development. Delay of puberty may also occur due to various causes such as malnutrition, various systemic diseases, or defects of the reproductive system (hypogonadism) or the bodys responsiveness to sex hormones.Initial workup for delayed puberty not due to a chronic condition involves measuring serum FSH, LH, testosterone/estradiol, as well as bone age radiography. If it becomes clear that there is a permanent defect of the reproductive system, treatment usually involves replacement of the appropriate hormones (testosterone/dihydrotestosterone for boys, estradiol and progesterone for girls).