PUBERTAL DISORDERS

In both boys and girls, puberty is triggered by a gland in the brain known as hypothalamus. It secretes a hormone known as gonadotropin-releasing hormone (GnRH). This GnRH stimulates the pituitary gland to release luteinizing hormone (LH) and follicle-stimulating hormone (FSH). These hormones are responsible in signaling the ovaries to start releasing female sex hormone estrogen and to release the eggs in girls. They signal testicles in boys to produce male sex hormone and sperm. These lead to the concomitant signs of puberty in the body.

Many causes may lead to pubertal disorders such as

1. Hormonal disorders
2. Problems in pituitary gland
3. Chromosomal and genetic disorders
4. Intense exercise, tumors, infections
5. Chemotherapy
6. An underlying medical condition
7. Injury

If the signs of puberty appear before eight years in girls or nine years in boys, it is known early puberty. The common signs may include sprouting of underarm and pubic hair and body odor. Boys may start to develop early growth of testicles, penis, facial hair and deepening of voice. Girls may develop breasts or start menstruating. Early puberty is more common in girls than boys.

Delayed puberty is defined as absence of sexual maturation as expected. In boys, delayed puberty is explained as absence of testicular enlargement by the age of 14 or if the complete development of genitalia from initial takes about five years. The sexual development is identified to be delayed in girls when there is lack of breast development by 13 years of age or when there is a gap of more than five years between initial growth of breast tissue and menarche (start of menstruation).Another sign is short stature but does not always indicate delayed puberty. If these signs are not noticed, you may have delayed puberty.

As there are many factors that may influence the timing of the puberty, the aim of the assessment involves in determining the underlying cause It may include assessing genetic factors ; environmental factors such as nutritional status, socio economic status etc. ; hormones and chemicals; and chronic diseases that may affect your child’s puberty.

If your child is presented with delayed puberty, the primary diagnosis involves in ruling out the constitutional delay of growth and puberty, which is a common cause. Further diagnosis involves in assessing the history and physical examination.

Laboratory tests involved in measuring hormone levels in blood like serum follicle-stimulating hormone, luteinizing hormone, estradiol (in girls), and testosterone (in boys) helps in identification of hormonal imbalance that may affect pubertal onset. The bone development is also assessed through bone radiography. Other tests involved in measurement of serum thyroid levels, prolactin and insulin may be recommended as required.

The outlook for the treatment depends on the individual and the underlying cause for the condition. Many treatment options are available ranging from hormonal therapy to surgical interventions involving anatomical correction.

In majority of the cases, the treatment of the underlying condition that is triggering the pubertal disorder often proves to be successful in reversing the condition. If there is no apparent cause for the disorder, there are medications available either to stop early puberty or to initiate puberty in the case of delayed puberty. Many physical and biochemical problems associated with the disorder can also be treated successfully. Psychotherapy also proves to be effective in the child’s emotional and physical development.

A child with early or precocious puberty may grow quickly at first and be tall when compared to their peers. Their bones mature quickly than normal and tend to stop growing earlier than usual. This makes them shorter than average in their adulthood. However, earlier treatment may help them grow taller than they would grow without any treatment.

Yes, a condition known as Kallmann syndrome leads to absence of puberty along with impaired sense of smell. It affects the production of hormones needed for sexual development. Kallmann syndrome affects the early development of hypothalamus and the sense of smell in the human embryo. This condition is present from birth but is usually revealed during the diagnosis for delayed puberty.

Males born with the condition usually have small penis and undescended testes. The normal pubertal characteristics such as growth of facial hair, deepening of voice in males and the start of menstruation (menarche), breast development along with growth spurt in both the sexes are also absent. The condition is more often in males when compared to females. Without proper treatment the condition may lead to infertility of the affected males or females.

Normally puberty occurs between 8-15 years in females and 9-16 years in boys. If a child shows signs of sexual maturation before 8 years of age- it is called precocious puberty and if the sexual maturity happens after 15 years of age; it is called delayed puberty.

Sexual maturity rate or Tanner staging is a widely used tool to assess sexual maturity in males and females. It categorizes sexual maturity in 5 stages; these stages are based on the maturation of secondary sexual characteristics.

Stage 1

Preadolescent

Stage 2

Pubic hair: Scanty, long, slightly pigmented, primarily at base of penis; Slight or no enlargement of penis; enlargement of testes and scrotum begun; scrotal skin reddened, texture altered

Stage 3

Pubic hair: Darker, coarser, starts to curl, small amount; longer penis; further enlargement of testes and scrotum

Stage 4

Pubic hairs: Coarse, curly; resembles adult type but covers smaller area; Penis: Larger in breadth, glans penis develops; Testis: Testes and scrotum nearly adult like

Stage 5

Adult quantity and distribution, spread to medial surface of thighs; Penis and testis adult like.