Constitutional delay of puberty history and symptoms
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
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 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.
History and Symptoms
Evaluation
Obviously anyone who is later than average is late in the ordinary sense. There are three indications that pubertal delay may be due to an abnormal cause. The first is simply degree of lateness: although no recommended age of evaluation cleanly separates pathologic from physiologic delay, a delay of 2-3 years or more warrants evaluation.
- In girls, no breast development by 13 years, or no menarche by 3 years after breast development (or by 16).
- In boys, no testicular enlargement by 14 years.
The second indicator is discordance of development. In most children, puberty proceeds as a predictable series of changes in specific order. In children with ordinary constitutional delay, all aspects of physical maturation typically remain concordant but a few years later than average. If some aspects of physical development are delayed, and others are not, there is likely something wrong. For instance, in most girls, the beginning stages of breast development precede pubic hair. If a 12 year old girl were to reach Tanner stage 3 pubic hair for a year or more without breast development, it would be unusual enough to suggest an abnormality such as defective ovaries. Similarly, if a 13 year old boy had reached stage 3 or 4 pubic hair with testes that still remained prepubertal in size, it would be unusual and suggestive of a testicular abnormality.
The third indicator is the presence of clues to specific disorders of the reproductive system. For example, malnutrition or anorexia nervosa severe enough to delay puberty will give other clues as well. Poor growth would suggest the possibility of hypopituitarism or Turner syndrome. Reduced sense of smell (hyposmia) suggests Kallmann syndrome.
Constitutional delay
Children who are healthy but have a slower rate of physical development than average have constitutional delay in growth and adolescence. These children have a history of stature shorter than their age-matched peers throughout childhood, but their height is appropriate for bone age, and skeletal development is delayed more than 2.5 SD. They usually are thin and often have a family history of delayed puberty. Children with a combination of a family tendency toward short stature and constitutional delay are the most likely to seek evaluation. They quite often seek evaluation when classmates or friends undergo pubertal development and growth, thereby accentuating their delay.