Puberty Disorders

One of the developmental stages, puberty is associated with the maturation of the self which is evident through physical and psychosocial maturation. Gonadarche is the term to describe the physical changes of puberty which occur from the production of gonadal sex hormone. Generally, gonadarche indicates puberty onset and is triggered by the release of gonadotropin-releasing hormone, which in turn activates the hypothalamic-pituitary-gonadal (HPG) axis. 

In girls, breast development is caused due to an increase in ovarian estradiol secretion at a mean age of 10 years (range: 8-12 years). Menarche (1st occurrence of menstruation) is usually seen 2.5 years after the onset of breast development, (averagely 12.5 years). In males, at least 4 mL of testicular enlargement in volume or an increase of 2.5 cm in length could be recognised as the first signs of puberty. It  averagely occurs at 11.5 years. 

There are various factors which can trigger puberty disorders - i.e; either an early (precocious puberty) or delayed (delayed puberty) onset. Puberty disorders can affect not just the sexual development but also the general growth, and bone health, thus causing significant distress in both - the children and their families.

Puberty Disorders Types

puberty disorders can be categorized into three primary types:

  • Precocious Puberty: This disorder marks the early development of secondary sexual characteristics, before 8 and 9 years of age in girls and boys respectively. Usually head trauma, McCune-Albright syndrome, testotoxicosis, etc can cause precocious puberty.
  • Delayed Puberty: This occurs when there is a significant delay in the onset of puberty, beyond 13 years for girls and 14 years for boys.
    Both conditions require medical evaluation to identify underlying causes and recommend appropriate interventions.
  • Contrasexual development: This disorder is characterised by the development of male or female physical features in the children of the opposite genders. Usually this is more seen in girls. Polycystic ovaries and increased responses by the adrenal gland are the common factors of contrasexual development in the females who develop male-like distribution of hair, clitoromegaly (abnormally large clitoris) etc.

Puberty Disorders Symptoms

The symptoms of puberty disorders do vary depending on the type and gender of the child.

Girls:

  • Premature thelarche (early breast development)
  • Delayed breast development
  • Precocious menarche (Early onset of menstruation)
  • amenorrhea (Absent menstruation)
  • Precocious puberty (Rapid growth in height)
  • Slower growth (delayed puberty)

Boys:

  • Early or absent enlargement of testicles or penis
  • Rapid voice masculinization (deepening of voice)
  • Facial or pubic hair growth
  • Slow growth or delayed muscle development (delayed puberty)

Puberty Disorders Causes

Several factors can contribute to the development of puberty disorders. Common causes include:

  • Hormonal Imbalances: The body may produce excess or insufficient levels of sex hormones like estrogen or testosterone.
  • Genetic Factors: While most cases of central precocious puberty in boys are due to premature activation of the HPG axis, its cause in girls are usually genetic. The common genes which are associated with precocious puberty include the kisspeptin gene (KISS1), kisspeptin receptor gene (KISS1R), makorin ring finger protein 3 gene (MKRN3), and delta-like homolog 1 gene (DLK1).
  • Brain Tumors or Injuries: Lesions in the central nervous system and pituitary lesions can initiate precocious puberty, typically presenting with an increased bone age compared to their normal chronological age. Additionally, these lesions can aid in the development of visual field defects.
  • Chronic Illnesses: McCune-Albright Syndrome is associated with polyostotic fibrous dysplasia, cafe-au-lait spots, precocious puberty, along with other potential endocrine disorders. In McCune-Albright syndrome, the precocious puberty occurs in early childhood, comprising of symptoms such as sudden onset of vaginal bleeding as early as two years of age.
  • Environmental Exposures: Recent studies demonstrated that the onset of puberty is increasingly observed at younger ages, most of which has been triggered from environmental exposures. Several studies have found that exposure to the pesticide dichlorodiphenyltrichloroethane (DDT) and its metabolite dichlorodiphenyl dichloroethane (DDE) are associated with a younger age of puberty as evidenced by earlier menarche or thelarche.

When to See a Doctor?

Parents should seek medical advice if their child shows signs of early or delayed puberty. These include girls developing before age 8 or boys before age 9, or if puberty hasn't begun by age 13 for girls and 14 for boys. Timely consultation with a pediatric endocrinologist, such as Dr. Prudwiraj Sanamandra at the Dr. Prudwiraj Sanamandra Endocrinology Clinic, can help identify the root cause and provide tailored treatment.

Puberty Disorders Risk Factors

  • Family History: A family history of early or delayed puberty can increase a child's risk of developing puberty disorders.
  • Obesity: Excessive weight gain has been associated with precocious puberty, particularly in girls.
  • Chronic Conditions: Health conditions like asthma or diabetes can interfere with normal puberty development.
  • Radiation Therapy or Chemotherapy: Previous cancer treatments may lead to delayed puberty.

Puberty Disorders Complications & Prevention

Complications of puberty disorders can vary. Precocious puberty can result in short stature due to premature bone growth. Emotional and social challenges, such as peer-related issues, may also arise. Delayed puberty can impact bone density and lead to infertility issues in adulthood. While puberty disorders cannot always be prevented, maintaining a balanced diet, managing chronic conditions, and regular checkups can help monitor early signs.

Puberty Disorders Diagnosis & Tests

Puberty disorders tests often include:

  • Hormonal Blood Tests: To check levels of hormones like LH, FSH, and estrogen/testosterone.
  • Bone Age Assessment: X-rays of the hand and wrist are taken to assess bone development and maturity.
  • MRI or CT Scans: These imaging tests help evaluate the brain and rule out tumors or other anomalies affecting the pituitary gland or hypothalamus.

Puberty Disorders Treatment Options

Treatment depends on the underlying cause and type of disorder. Some options include:

  • Hormone Therapy: Administering or blocking hormones to either delay or initiate puberty.
  • Surgery: For cases involving tumors or cysts, surgical intervention may be necessary.
  • Medications: Specific medications can help regulate hormonal imbalances.

Do's and Don’ts for Managing puberty Disorders

Do's:

  • Ensure regular check-ups with a pediatric endocrinologist
  • Maintain a healthy lifestyle with a balanced diet and physical activity
  • Provide emotional support to children experiencing puberty challenges
  • Educate your child on puberty to foster a supportive environment

Don’ts:

  • Avoid comparing your child’s growth to others as everyone develops at their own pace
  • Don’t ignore early or delayed signs of puberty—seek medical advice early
  • Avoid giving your child unregulated supplements without consulting a doctor

Care at Dr. Prudwiraj Sanamandra Endocrinology Clinic

At Dr. Prudwiraj Sanamandra Endocrinology Clinic, we specialize in treating puberty disorders with comprehensive care tailored to each child’s unique needs. Dr. Prudwiraj Sanamandra, an expert in pediatric endocrinology, brings extensive experience in managing hormonal disorders in children. With advanced diagnostic tools and personalized treatment plans, we ensure optimal growth and development for your child.

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