Delayed Puberty

What is Delayed Puberty?

Puberty is a time of significant emotional and physical changes that can cause stress and worry for teenagers and their families. The process usually starts between ages 8-13 for girls and 9-14 for boys. The beginning of puberty is marked by breast development in girls and by testicular enlargement in boys. When there is a difference in the timing of puberty, it’s important for the child’s doctor or healthcare provider to pay close attention to the child’s growth and make sure there are no medical conditions causing the delay.

Sometimes a child may start showing signs of puberty earlier than expected – before age 8 in girls and before age 9 in boys. This situation is known as precocious puberty. This explanation, though, is about delayed puberty. Delayed puberty in girls is characterized by the absence of breast development by age 13, more than 4 years between the start of puberty and its completion, or if a girl hasn’t started her period by 16. In boys, delayed puberty is defined by no enlargement of testicles by 14 years or more than 5 years between the start of puberty and its completion.

Puberty is a sign of the growing up process controlled by some critical hormones produced by the hypothalamus, pituitary gland, and the gonads, areas in our body involved in reproductive functions. Other changes like acne, underarm or pubic hair, and body odor are triggered by hormones known as adrenal androgens. This is called adrenarche and is separate from the hormone control of puberty. Therefore, a child might show signs of adrenarche, like developing body odor, but could still experience delayed puberty.

What Causes Delayed Puberty?

For both boys and girls, puberty may be delayed due to several reasons. One such reason is functional hypogonadotropic hypogonadism – a temporary condition usually brought on by stress to the body because of chronic diseases like severe persistent asthma, sickle cell anemia, cystic fibrosis, or ulcerative colitis. Poor nutrition can also lead to delayed puberty. Although eating disorders are more common in girls, they can also occur in boys. Sometimes, certain social situations at home can lead to malnutrition. In adolescents, emotional issues may also cause delayed puberty and often these are linked to the previously mentioned conditions.

While there are less common causes of delayed puberty, one of them is congenital hypogonadotropic hypogonadism, also known as panhypopituitarism. But this condition usually results in growth hormone deficiency, causing severe short stature from an early age.

In boys, a common cause of delayed puberty is a decrease in the rate of growth, also known as constitutional delay of puberty and growth (CDPG). If this condition is present, a boy will typically grow more slowly and start puberty later compared to his peers. Usually, the delayed puberty will occur between ages 15 to 17, instead of the typical 13 to 15 years of age. As a result, the boy may not reach his full height until he is older than 17 or 18 years. A family history with a “late bloomer” can indicate that the boy also has CDPG.

Hypogonadotropic hypogonadism can also occur in boys, which involves a permanent delay in the maturation of certain hormones that control puberty, leading to decreased testosterone production. This can be due to a genetic condition called Kallman syndrome, which results from certain genetic mutations. This condition often goes along with the inability to smell, and on rare occasions, can be linked to the presence of a brain tumor.

On the other hand, hypergonadotropic hypogonadism happens when the sex glands fail, resulting in low testosterone levels. This can be due to radiation treatment for cancer, surgery, or infections like mumps. It can also be due to a condition called Klinefelter syndrome or a very rare condition called vanishing testis syndrome, both of which can lead to infertility in males.

In girls, delayed puberty due to growth and puberty delay is less common but can still occur. More commonly, though, girls can experience functional hypogonadotropic hypogonadism, often because of conditions that reduce body fat, like anorexia nervosa or excessive exercise.

Finally, hypergonadotropic hypogonadism can occur in girls as a result of the ovaries not working properly. This can be due to radiation treatment for cancer or autoimmune destruction of the ovaries and can be associated with other autoimmune disorders. Turner syndrome is another common cause of this type of hypogonadism in girls, leading to several physical features including short stature, a broad chest, and a webbed neck. It can also be associated with heart and kidney malformations. Therefore, managing Turner syndrome often requires a team of different medical specialists.

Risk Factors and Frequency for Delayed Puberty

In a big study done at an academic center in the U.S., 232 people were studied to understand the different causes of delayed puberty.

• CDPG was the most common cause, affecting 53% of teenagers 18 years or younger. It was seen more in boys (63%) than in girls (30%).
• Functional hypogonadotropic hypogonadism was found in 19% of the patients.
• Permanent hypogonadotropic hypogonadism was in 12% of the patients.
• Primary gonadal failure was a factor in 13% of the patients.
• 3% of the patients had a condition that couldn’t be clearly identified.

Signs and Symptoms of Delayed Puberty

If you think your child is experiencing a delay in puberty, a comprehensive check-up is necessary. This evaluation commonly includes the following steps:

• Current Illness History: The doctor will ask if there have been noticeable signs of puberty, including breast growth, testicle enlargement, body odor, underarm hair, pubic hair, or acne. They will also distinguish between the child’s normal hormonal changes and actual puberty. They’ll also ask about any symptoms that could indicate possible causes for the delay in puberty. For example, persistent tiredness or weight loss could indicate a chronic condition like sickle cell anemia, depression, or malnutrition, while consistent headaches and blurry vision could suggest a brain mass.
• Medical History: The doctor will review the child’s birth and vaccination history and ask about any ongoing medical issues, like asthma and cystic fibrosis. If the child ever had cancer and received total body radiation, it will be important to mention this.
• Family History: The doctor will want to know if any of the child’s biological siblings or parents had a delay in starting puberty.
• Surgical History: The doctor will ask if the child had any operations, such as the surgical correction of cryptorchidism, a condition where one or both of the testes fail to descend, which can lead to a failure of the gonads.
• Social History: The doctor will want to know about the child’s home environment. They’ll ask if the child lives with both parents and if the child has been exhibiting concerning behavior or mood instability.
• Development: The doctor will inquire if the child missed any developmental milestones or had a diagnosis of developmental delay. Conditions like Klinefelter syndrome, for example, are often linked with such delays and behavioral issues.
• Physical Exam: Finally, the doctor will perform a comprehensive physical exam. They assess the child’s height, weight, and body mass index (BMI), checking for any trends of concern in the child’s growth curve and for signs of early puberty, like body odor and facial acne. They’ll also determine the child’s Tanner stage, which is a measure of physical development in children, adolescents and adults.

In short, understanding and evaluating a possible delay in puberty involves a range of elements from different aspects of the child’s life. This detailed examination helps the doctor plan the best course of action.

Testing for Delayed Puberty

If your child’s growth seems slower or different than expected, doctors might use various tests to figure out why. Predicted height is determined based on the parent’s height. Then we plot it and compare to the child’s actual height, weight, and body mass index (BMI), checking to see if there are changes over time. More measurements mean more informative data.

Further tests might be needed based on these results. A ‘bone age’ test, using an x-ray of the child’s left hand and wrist, can tell us how their bones are growing. If Turner syndrome or a hidden testicle is suspected, ultrasounds of the ovaries and testes respectively, can be carried out. If a brain abnormality, like a craniopharyngioma, is a concern, an MRI scan of the brain is done.

Blood tests might be ordered too. These can check the child’s level of puberty hormones like LH and FSH. In girls, estradiol levels can be checked, whereas in boys, they might look at testosterone levels. Extra blood tests might also be taken, based on what the doctor finds during an examination. These can include a blood cell count, a panel to look at how the body’s metabolism is working, thyroid function tests, and tests to look for inflammation in the body. If there’s a suspicion of a tumour that produces excess amounts of the hormone prolactin, such as a prolactinoma, or if there’s worry about adrenal gland function, or growth hormone deficiency, other specific hormone tests may be done. In some cases, genetics tests might be considered if the doctor suspects a specific syndrome caused by a change in the child’s chromosomes.

A specialist called a pediatric endocrinologist might perform a GnRH stimulation test, which helps understand how the child’s body is responding to puberty hormones. However, this test is usually not part of the first lot of tests that are done.

Treatment Options for Delayed Puberty

If a young person is diagnosed with a delay in both puberty and growth, the approach to treatment usually depends on the individual’s and their parents’ main concerns. For some, especially if puberty has already begun and their future height isn’t a primary worry, closely observing the situation might be the best course of action.

However, if the delay in puberty and growth is causing significant emotional stress and self-esteem issues, treatment might be needed. Signs that could indicate the need for treatment include instances of bullying, poor school performance, or the young person stopping participation in sports because of their delayed growth. The treatment generally involves giving low doses of testosterone to boys or estrogen to girls. This method has been shown to quicken growth, accelerate sexual development, and improve mental well-being without notable side effects or significantly impacting the predicted final adult height.

For boys, testosterone can be given orally or by injection, but the injectable form is typically more suitable to avoid the risk of liver issues associated with oral testosterone. For girls, estrogen can also be given either orally or by injection, but in this case, the oral form is usually preferred. Once treatment starts, it’s important to monitor the young person regularly for signs of puberty development, such as testicular enlargement in boys or breast development in girls. After a few months, the doctor might stop the hormone treatment temporarily to check if puberty continues to progress in its absence.

If delayed growth is a major concern rather than delayed puberty, growth hormone therapy has been employed to promote height increase. However, this hasn’t been proven to significantly affect the final adult height in adolescents with this condition, so it’s generally not a recommended treatment approach.

If a person is diagnosed with permanent hypogonadism resulting from primary genital failure or chronic issues affecting the hormones controlling growth and puberty, they’ll usually require a longer period of hormone therapy. In boys, injectable testosterone is typically the first choice of treatment, given in low doses initially and gradually increased over time. For girls, the preferred initial treatment is typically a low dose of oral estrogen, which is also incrementally increased over time. After 12 to 24 months, or once vaginal bleeding starts, the patient is usually advised to start a combination of estrogen and progesterone therapy to mimic normal monthly menstrual cycles. Hormonal therapies commonly used include oral contraceptives or transdermal estrogen patches along with oral progesterone.

What else can Delayed Puberty be?

Puberty can sometimes be delayed in both boys and girls due to various reasons. These reasons can include:

• Long-term illnesses, such as sickle cell anemia, inflammatory bowel disease, cystic fibrosis, and celiac disease.
• Mental health issues like depression and anxiety.
• Unhealthy or difficult home environment.

For boys, there can be additional specific reasons delaying puberty such as:

• Late puberty and growth development, common in some families.
• A condition leading to lower production of sex hormones due to”;
  • Chronic illnesses like cystic fibrosis, sickle cell anemia, celiac disease, etc.
  • Mental health issues like anxiety and depression.
  • Genetic disorders like Kallman syndrome or the presence of a mass or tumor in the brain.
• A condition leading to premature dysfunction of testes, due to:
  • Effects of therapies, like radiation
  • Prior surgeries to the testicles
  • Genetic disorders like Klinefelter syndrome or testicular regression syndrome.

For girls, the reasons delaying puberty could be:

• Late puberty and growth development, sometimes, a common trait in certain families.
• A condition leading to lower production of sex hormones due to:
  • Chronic illnesses, such as cystic fibrosis, sickle cell anemia, celiac disease, etc.
  • Psychosocial conditions like anorexia nervosa, excessive exercising, depression and anxiety.
  • Genetic disorders like Kallman syndrome or the presence of a mass or tumor in the brain.
• A condition leading to premature ovarian failure, due to:
  • Effects of therapies, like radiation
  • Prior surgeries to the ovaries
  • Genetic conditions like autoimmune ovarian failure or Turner syndrome

What to expect with Delayed Puberty

How well a person recovers from delayed puberty depends on what’s causing it. Central Precocious Puberty (CPP), for instance, usually has a good chance of recovery, whether it’s managed through a wait-and-see approach or through specific treatments. However, more complex causes of delayed puberty might need additional care from specialized doctors.

Access to medical care and resources also plays a crucial role, especially if the person’s diagnosis is complicated. So, the outcome also relies on the person’s overall health status and the financial and social support available to him or her.

Possible Complications When Diagnosed with Delayed Puberty

Delayed puberty often influences an individual’s social, emotional, and academic development, potentially leading to stress. In instances of Constitutional Delay of Growth and Puberty (CDPG), it’s important to clarify that this delay is just a natural variation in the timing of puberty. Treatments for CDPG won’t significantly affect the predicted height when the person stops growing. If delays in puberty are caused by reasons other than CDPG, it’s critical for the healthcare provider to thoroughly examine the patient. This allows for a quicker diagnosis and earlier treatment. The complications linked with delays in puberty, excluding those caused by CDPG, will vary depending on the underlying condition.

Preventing Delayed Puberty

Patients and their families need to be educated about the earliest signs of puberty in both boys and girls. They should also be informed that girls typically start puberty between 8 and 13 years old, while boys start between 9 and 14 years old. If there are worries about early or late puberty, it’s best to quickly get help from a healthcare professional to ensure a correct and prompt diagnosis. The healthcare professional might also decide to bring in a specialist, known as a pediatric endocrinologist, for further examination and management of the patient’s condition.