Delayed puberty
Delayed puberty can be defined as follows:
In girls:
- No breast development by 13 yrs of age
- No menarche (mentruation) by 15 yrs of age
In boys:
- No pubertal development by 14
In girls or boys:
Normal puberty
In normal puberty, part of the brain called the hypothalamus sends a hormone to another part of the brain called the pituitary. This hormone, called gonadotropin releasing hormone (GNRH), then stimulates the pituitary to make two different hormones or gonadotropins, luteinizing hormone (LH) and follicular stimulating hormone (FSH). These two hormones, in turn, stimulate the ovaries in girls to make estrogen and androgens and the testicles in boys to make testosterone.
Delayed puberty
Frequently delayed puberty is due to ‘constitutional delay of growth.' This is a variant of normal and not indicative of a medical problem. In constitutional delay of growth, girls and boys enter puberty later than normal. Once puberty begins, the process continues as it should. Often these kids have a parent who also had late puberty.
In some situations, delayed puberty is actually due to a medical problem. Most of the problems can be categorized into problems with the ovary or testicles or problems with the part(s) of the brain called the pituitary and/or hypothalamus.
Problems with the ovaries in girls or the testicles in boys
The medical term for this is ‘hypergonadotropic hypogonadism.' In this case, the brain senses that the ovaries/testicles are not making the hormones needed for puberty. The brain doesn't know why the ovaries/testicles are not making the normal estrogen/testosterone, and so the brain continues to send signals to the ovaries/testicles to try to get them to work.
- LH and FSH are high
- Estrogen or testosterone is low
Causes
Problems with the pituitary/hypothalamus in girls or boys
The medical term for this is ‘hypogonadotropic hypogonadism.' In this case, the brain is not able to make the hormones that are needed to start puberty. The ovaries/testicles have the ability to work normally, but they never receive the signals from the brain to start making the puberty hormones.
- LH and FSH are low
- Estrogen or testosterone is low
Causes
- Chromosomal/genetic disorders
- Chronic illness
- Structural abnormalities of the hypothalamus or pituitary area
- Abnormal secretion of the pituitary or hypothalamus hormones
Evaluation for delayed puberty
A child's pediatrician may begin the evaluation for delayed puberty or may refer to a specialist, a pediatric endocrinologist, to perform the evaluation. Parts of the evaluation may include some of the following:
History
Physical examination
In addition to a general examination in a girl, the doctor will
- Visualize and palpate for breast development
- Visualize the private area (genital region)
Laboratory studies
- Early morning laboratory studies
o LH and FSH (hormones produced in the brain)
o Estradiol and androgens for girls
o Testosterone for boys
o Other general labs - A stimulation test
o In some cases a special stimulation test is needed to see if the brain is able to make puberty hormones. This can be helpful in identify youth with constitutional delay of growth.
o Lab tests are drawn in the morning
o Medication is given to stimulate the pituitary to make LH and FSH
o LH and FSH is measured several times over the next 3 hours
o Patient goes home, but is instructed to get one more set of labs the following morning.
Imaging
- Bone age: X-ray of the left hand to measure skeletal age to see if bones have developed faster or slower than expected.
- Ultrasound: Image of the ovaries or testicles to look at size, appearance
- MRI: Image of the pituitary, the part of the brain that makes LH and FSH to stimulate the start of puberty
Treatment options
Girls:
If the ovaries are not able to make the needed estrogen to start puberty, then a doctor can prescribe estrogen. The estrogen medication will then initiate puberty. In some cases the estrogen medication will be needed to be continued through young adulthood. Estrogen is available as a patch and as a pill.
Boys:
If the testicles are not able to make the needed testosterone to start puberty then a doctor can prescribe testosterone. The testosterone can initiate puberty. In some cases, however the child will need to have testosterone lifelong. Testosterone is available as an injection, patch, or cream.