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Diagnosis and Treatment of Delayed Puberty
Contents
How is delayed puberty defined?
Delayed puberty is defined as the absence of pubertal signs by the age of 13 in girls and 14 in boys. In addition, the absence of menarche, which means the first menstrual period, by the age of 15 in girls, or the absence of a growth spurt by the age of 16 in boys, is also considered delayed puberty.
What are the most common causes? Which findings are seen?
1- Constitutional delay of puberty and growth
In constitutional delay of puberty and growth, puberty that starts spontaneously is significantly delayed. It is seen in 65% of boys and 30% of girls with delayed puberty. Similar cases are present in the families of the patients. Patients are often thin, have a low growth rate, delayed bone age, and no other disease.
2- Permanent hypogonadotropic hypogonadism
In patients with permanent hypogonadotropic hypogonadism, signs of pituitary insufficiency such as jaundice in the neonatal period, small penis, and low blood glucose may be seen. In these patients, gonadotropins (LH, FSH) and sex steroids (estradiol and testosterone) are also low. It is often seen together with other pituitary hormone deficiencies.
Genetic disorders, midline defects, cranial tumors, infections, storage diseases, trauma, chemotherapy, and radiotherapy cause hypogonadotropic hypogonadism. Visual impairment, headache, visual impairment, seizures, and vomiting may be seen in these patients.
3- Functional hypogonadotropic hypogonadism
Functional hypogonadotropic hypogonadism is a condition in which gonadotropin secretion is temporarily impaired as a result of severe obesity and eating disorders such as anorexia nervosa, as well as systemic inflammatory diseases such as inflammatory bowel diseases and rheumatoid arthritis, malabsorption such as cystic fibrosis and celiac disease, diabetes, and intense exercise. This condition improves with the treatment of the diseases. Findings related to the disease are seen in these patients, such as swelling in the joints, diarrhea, abdominal pain, and abdominal bloating.
In patients with chronic disease, puberty often fluctuates in the form of delay and arrest due to nutritional problems, the course of the disease, and the medications used.
4- Hypergonadotropic hypogonadism
Hypergonadotropic hypogonadism occurs in cases where the ovaries and testes cannot secrete sex steroids. In girls, the most common cause is genetic, namely Turner syndrome. In boys, Klinefelter syndrome is the most common cause. It may also occur due to structural disorders of the ovaries and testes, infections, medications, and radiation therapy.
How is it diagnosed?
The patients’ height and weight should be measured, and body mass index should be calculated. Fundoscopic examination should be performed for intracranial tumors; the presence of cleft lip and palate should be evaluated in terms of anterior pituitary hormone deficiency; and heart-lung, liver-spleen, and musculoskeletal examinations should be performed in terms of systemic diseases. In patients with Turner syndrome, short stature may be accompanied by webbed neck, strabismus, epicanthus, widely spaced nipples, scoliosis, and an increased number of moles on the body.
Short stature may be seen in growth hormone deficiency; sweaty skin, goiter, exophthalmos, and being underweight for height may be seen in hyperthyroidism; excessive weight for height, dry hair and skin, goiter, and bradycardia may be seen in hypothyroidism; being underweight for height, pale skin, abdominal bloating, and abdominal tenderness may be seen in celiac disease and inflammatory bowel disease; visual impairment and abnormal neurological findings may be seen in congenital or acquired central nervous system diseases.
In addition to LH, FSH, and sex steroids (estradiol or testosterone), other pituitary hormone levels should be measured, and biochemistry tests and complete blood count should be performed for systemic diseases. Chromosome analysis should be performed in necessary cases. Visual field evaluation should be performed to assess the presence of intracranial tumors compressing the optic chiasm.
How is it treated?
Estrogen or testosterone treatment is started according to sex. The dose is started very low and increased at six-month intervals.
