Growth measurement parameters in children with suspected constitutional delay include a height, a weight, the rate of growth, and the calculated mid-parental height which represents the expected adult height for the child. Malnutrition or chronic disease
Diet and physical activity habits, as well as history of previous serious illnesses and medication history can provide clues as to the cause of delayed puberty. Delayed growth and puberty can be the first signs of severe chronic illnesses such as metabolic disorders including inflammatory bowel disease and hypothyroidism. Symptoms such as fatigue, pain, and abnormal stooling pattern are suggestive of an underlying chronic condition. Low BMI can lead a physician to diagnose an eating disorder, undernutrition, child abuse, or chronic gastrointestinal disorders. Primary failure of the ovaries or testes
A eunuchoid body shape where the arm span exceeds the height by more than 5 cm suggests a delay in growth plate closure secondary to hypogonadism. Turner syndrome has unique diagnostic features including a webbed neck, short stature, shield chest, and low hairline. Klinefelter syndrome presents with tall stature as well as small, firm testes. Genetic or acquired defect of the hormonal pathway of puberty
Lacking the sense of smell (anosmia) along with delayed puberty are strong clinical indications for Kallmann syndrome. Deficiencies in GnRH, the signalling hormone produced by the hypothalamus, can cause congenital malformations including cleft lip and scoliosis. The presence of neurological symptoms including headaches and visual disturbances suggest a brain disorder such as a brain tumor causing hypopituitarism.
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.