Delayed & Early Puberty

Delayed Puberty

Puberty is a phase of rapid growth and development that involves physical growth and sexual maturation, along with psychological and social development. The normal age of puberty in girls is 8-12 years whereas in boys it is 10-14 years. A condition in which puberty is deferred beyond the average age of puberty is called delayed puberty.

Generally, puberty is a result of increased hormonal levels in the body, stimulated by the hypothalamic-pituitary-gonadal axis. This stimulation triggers the hypothalamus to secrete gonadotropin-releasing hormone (GnRH). In response to GnRH, the pituitary gland starts releasing luteinizing hormone (LH), which induces the special cells present in the testes and ovaries to produce sex hormones, i.e. testosterone and estrogen respectively. The increased levels of the specific sex hormones are responsible for the development of secondary sexual characteristics.

The signs of puberty in girls include:

Breast development
Menstrual cycle
Appearance of underarm and pubic hair
Rapid growth such as increase in height
Acne

The signs of puberty in boys include:

Deepening of voice
Appearance of underarm, chest, facial and pubic hair
Rapid growth such as increase in height
Enlarged penis and testes
Acne
Increase in muscles mass
Ejaculation in which semen is ejected from the penis

Causes

The delay in puberty and sexual development can occur due to chronic diseases, abnormal chromosomes, and many other factors. In some cases puberty may take longer time than the peers, but finally is achieved; this is called constitutional delay. The possible causes for delayed puberty are as follows:

Chronic diseases such as diabetes mellitus, inflammatory bowel disease, kidney disease, cystic fibrosis, kallaman’s syndrome and autoimmune diseases
Conditions such as anemia, hypopituitarism and malnutrition
Chronic infections
Cancer
Chromosomal abnormalities such as turner syndrome, Klinefelter syndrome, Noonan syndrome and Prader-Willi syndrome
Certain radiation therapy and chemotherapy
Robust training exercises

Diagnosis

The diagnosis of delayed puberty involves physical examination, family history and medical history of the child. The bone growth can be assessed by taking X-rays of the wrist bone. Based on the results and underlying condition, other tests may be ordered that include:

Chromosomal analysis
Hormonal level such as FSH, LH, and estrogen in girls and testosterone in boys
MRI scan of head and pituitary gland for detecting tumors or lesions
Ultrasound of pelvic region (female)
GnRH stimulation test
Diet and nutrition assessment
X-rays of the skull
Smell and vision tests

Treatment

The treatment of delayed puberty depends on the underlying cause. The underlying diseases responsible for delayed puberty are to be treated. Hormonal replacement therapy is recommended for those who are suffering from chromosomal abnormalities. Psychological support with certain medications are also recommended in children with delayed puberty.

In some cases, surgery may be employed such as with turner syndrome in girls, where ovaries of the affected girl are surgically removed to avoid the risk of developing cancer.

Early Puberty

The signs of precocious puberty in girls include:

Breast development
Menstrual cycle
Appearance of underarm and pubic hair
Rapid growth such as increase in height
Acne

The signs of precocious puberty in boys include:

Deepening of voice
Appearance of underarm, chest, facial and pubic hair
Rapid growth such as increase in height
Enlarged penis and testes
Acne

Based on the cause of increased hormonal secretion, precocious puberty can be categorized as:

Central precocious puberty (CPP)- involves central nervous system i.e. brain and spinal cord
Peripheral precocious puberty (PPP)- involves organs other than brain and spinal cord

Causes

In central precocious puberty, underlying causes responsible for precocious puberty remain unidentified. The majority of patients, suffering from this condition, are medically fit, without any identifiable cause for early puberty. In rare cases, central precocious puberty may be secondary to any of the following conditions:

Tumor, either in the brain or spinal cord i.e. central nervous system
Inborn brain defect such as excessive fluid (hydrocephalus)or noncancerous tumor (hamartoma)
Exposure of the brain or spinal cord to harmful radiations
Trauma or injury to the brain or spinal cord
McCune-Albright syndrome- a genetic disease that affects bones and skin color; resulting in hormonal disorders
Hypothyroidism- a condition characterized by decreased hormonal secretion by the thyroid gland
Congenital adrenal hyperplasia- an inherited disorder characterized by dysfunction of the adrenal glands

Peripheral precocious puberty (PPP) is a less common condition, in which the Gn-RH is not involved in triggering early puberty. In PPP there is an increased level of sex hormones, i.e. testosterone and estrogen, secondary to:

Tumor in the adrenal or pituitary gland
McCune-Albright syndrome
Use of creams or ointments containing ingredient which may metabolize to estrogen or testosterone
Ovarian cysts and ovarian tumors (girls)
Tumor in the germ cell i.e. leydig cells that produces testosterone (boys)
Gene mutation- defect in the gene that produces testosterone in 1-4-year-old boys

Complications

The possible complications of precocious puberty are as follows:

Short height: due to early release of the hormones the growth plate fuses and further growth stops
Social and emotional problems: early puberty generates depression, loss of self-esteem and substance abuse

Diagnosis

The diagnosis of precocious puberty involves physical examination, family history and medical history of the child. The bone growth can be assessed by X-rays of the wrist bone, for evaluation of normal growth. Gn-RH Stimulation test is recommended for determining the type of precocious puberty. The additional tests that may be employed for testing CPP include MRI scan of the brain and thyroid testing, whereas for PPP additional tests may include certain blood tests and ultrasound for detecting ovarian cysts or tumors.

Treatment

The treatment of central precocious puberty involves certain medications, called Gn-RH analogue therapy, that delay the onset of puberty. In peripheral precocious puberty the underlying medical condition causing puberty also needs to be treated. The treatment may include surgical removal of the tumor, which is causing precocious puberty.