Pubertas Tarda: Causes, Symptoms & Treatment

Pubertas tarda marks delayed development of girls or boys during puberty. There may be various reasons for this. Often there is a constitutional delay in development, which also already occurred in the parents.

What characterizes pubertas tarda?

Pubertas tarda means the delayed onset or development of puberty. Sometimes puberty does not occur at all. This can affect both girls and boys. By definition, pubertas tarda occurs when puberty has not yet begun in girls at age 13.5 and in boys at age 14, when more than five years elapse between onset and the attainment of Tanner stage P5 G5, or when development within puberty is dormant for more than 18 months. According to Tanner, pubertal development is divided into individual stages. They define different stages of development of primary and secondary sexual characteristics. These include the female breast, female as well as male genitalia and pubic hair. Pubertas tarda has no single cause. In most cases, development occurs later. In rarer cases, however, there is an underlying disease.

Causes

There are many causes of pubertas tarda. Most often, there is a constitutional pubertas tarda. Here, the developmental delay is congenital. Often a pubertal developmental delay already took place in one or both parents. Delayed development is also associated with delayed skeletal maturation. Puberty then proceeds normally, but height is usually in the lower normal range. Constitutional pubertas tarda is not pathological, but only a feature of genetic diversity. However, pubertas tarda can also be the result of pathological processes. For example, a variety of chronic diseases cause disturbances in skeletal growth. These include, for example, Crohn’s disease, cystic fibrosis or diabetes mellitus. Malnutrition also leads to delayed puberty. Furthermore, mental illnesses such as depression also have an influence on pubertal development. Primary functional disorders of the gonads often cause hypogonadism with reduced production of sex hormones. These can be genetic, such as Ulrich-Turner syndrome in girls or Klinefelter syndrome in boys. Inflammation of the testes or ovaries also leads to reduced sex hormone synthesis. Secondary dysfunction of the gonads results from the loss of important releasing hormones that stimulate the production of sex hormones. In this case, a disease of the pituitary gland is present. Tertiary dysfunctions of the gonads are caused by diseases of the hypothalamus. In the absence of receptors for the sex hormone testosterone, the primary and secondary male sexual characteristics do not form despite normal testosterone concentration in the body. Despite a male genotype, the affected person has a female phenotype. Puberty does not occur.

Symptoms, complaints, and signs

Pubertas tarda manifests as delayed onset of puberty or slowed pubertal development. At times, puberty is absent altogether. Menstruation (menarche) in girls, growth of pubic hair (pubarche), and breast development (thelarche) are delayed. In boys, there are delays in the growth of the testicles and penis. Overall, skeletal maturation is delayed. A pubertal growth spurt usually does not occur. Therefore, body size deviates from that of adolescents of the same age. In rare cases, the epiphyseal joints close with a delay, resulting in tall stature. Delayed pubertal development can occasionally cause psychological problems. Additional symptoms vary depending on the underlying condition.

Diagnosis and course of the disease

For diagnosis, pubertas tarda is documented using Tanner’s stages of puberty. The medical history can already make distinctions between constitutional and disease-related causes. If pubertas tarda has occurred more frequently in the family and relatives, it can be assumed that there is a constitutional cause. During laboratory tests, the androgens, estrogens, the gonadotropins LH and FSH, and prolactin are determined in the blood. The determination of the gonadotropins can in turn distinguish primary from secondary or tertiary gonadal dysfunction.MRI evaluates intracerebral processes in secondary and tertiary dysfunction. Determinations of skeletal maturity and bone age are also part of the diagnosis of delayed pubertal development. The development of the internal female genitalia is followed by ultrasonography.

Complications

Because pubertas tarda is usually a symptom of an underlying disorder, it is often accompanied by complications of these disorders. In this case, the delayed onset of puberty is not usually the trigger of the health deteriorations. This is especially true when chronic diseases such as Crohn’s disease, cystic fibrosis, diabetes mellitus, depression or malnutrition are underlying. But serious complications can also occur in endocrine disorders, some of which are congenital, or in adenomas of the pituitary gland, as well as in inflammations, hemorrhages, and malignant tumors of the central nervous system, but these are not caused by pubertas tarda but by the actual diseases. However, even pubertas tarda which is characterized merely by harmless constitutional late development should be treated urgently with administration of hormones. Otherwise, delayed skeletal maturation will occur. The pubertal growth spurt is absent, resulting in deviating body sizes compared to the normal population. In some cases, it is even possible that extreme tall stature occurs due to delayed closure of the epiphyseal joints. Furthermore, the delayed onset of puberty can lead to severe psychological problems in some affected individuals. Thus, the development of depression up to the risk of suicide or social isolation is possible. Other psychological developmental disorders are also observed. As a rule, hormone therapy should bring good results in constitutional late development. However, if androgen receptor resistance is present in boys, even hormone therapy with testosterone may fail to induce puberty.

When should you see a doctor?

The condition pubertas tarda must always be treated by a doctor. In this disease, there is usually no self-healing and in most cases also a significant deterioration of the general condition of the affected person, if no treatment is initiated. The earlier pubertas tarda is treated, the better the prospects for a positive course of the disease. A doctor should be consulted if the development of puberty is severely delayed. In girls, this can be manifested by the absence of menstruation, and in boys by significantly delayed growth of the testicles and penis. Likewise, a tall growth of the affected person often indicates pubertas tarda and should always be treated at an early stage. However, since another disease is usually responsible for pubertas tarda, the underlying disease must be treated first. Usually, a pediatrician or general practitioner can be consulted for this condition. However, further treatment is carried out by a specialist.

Treatment and therapy

Treatment of pubertas tarda is based on the underlying condition. If constitutional pubertas tarda is present, treatment is usually not necessary because puberty is delayed but occurs on its own. In the case of tumors, surgical, radiotherapeutic or chemotherapeutic measures are used. Hormone replacement therapy with testosterone in boys and estrogens or progestins in girls can usually induce puberty quickly. Boys usually receive intramuscular injections of testosterone in the form of depot preparations from the age of 13. However, in the case of androgen receptor resistance, this treatment is ineffective. Girls can be treated with low-dose estrogen preparations from the age of 12. Later, a combination of estrogens and progestins is administered. In some cases, lifelong hormone replacement is necessary to prevent possible deficiency symptoms such as bone loss (osteoporosis). However, hormone therapy should be monitored by experienced endocrinologists to avoid side effects such as severe weight gain, mood swings, physical changes, or even cancer development.

Prevention

Measures to prevent pubertas tarda are not known. In most cases, the delay in pubertal development occurs regardless of lifestyle.In industrialized countries, malnutrition no longer plays a role as a cause. The influence of poor nutrition on pubertal development remains to be investigated.

Follow-up

Aftercare following successful treatment of pubertas tarda depends on the underlying conditions. Because many affected individuals do not produce enough sex hormones themselves even after treatment of pubertas tarda, it may be necessary to continue taking hormones until old age or at least until the age of presumed onset of menopause. This is especially important because a lack of sex hormones limits fertility and promotes the development of serious bone diseases such as osteoporosis. Regular visits to the doctor with blood tests are necessary to check the hormone levels in the body. If a tumor was the cause of pubertas tarda, regular check-ups are necessary even after it has been removed in order to detect the reappearance of a tumor at an early stage. If the tumor has been completely removed, however, no further follow-up is necessary. If a disease with accompanying massive weight loss, such as anorexia, was the cause of the pubertas tarda, regular check-ups with a doctor are also necessary in order to detect and counteract a renewed threat of weight loss at an early stage. In addition, a change in diet (high in carbohydrates, protein and fat) should be actively pursued to maintain a normal weight. The administration of nutritional supplements can also be helpful. Appropriate long-term therapy should be discussed intensively with the attending physician.

What you can do yourself

If the child shows no signs of incipient puberty until adolescence, a visit to the doctor is recommended. If pubertas tarda is present, early hormonal treatment can initiate the pubertal process and prevent long-term physical and psychological problems. In addition, the condition is often based on a disease that needs to be clarified and treated. Therefore, a doctor should already be consulted if there is any suspicion. If further complaints occur, for example malaise or pain, a tumor or another disease may be the cause. Parents should immediately consult a specialist and discuss further measures with him or her. Targeted self-help is possible by changing the diet and incorporating exercise into everyday life. This can regulate the hormone balance and thus contribute to the onset of puberty. Parents should also talk a lot with the affected child and educate him or her about the causes of pubertas tarda. The support of family and friends is especially important when the onset of puberty is delayed. If drug treatment is initiated, attention must be paid to any side effects and interactions. Further self-help measures are usually not necessary, since puberty usually sets in on its own after comprehensive drug therapy.