Hypogonadism (Delayed Puberty)

Patients with disorders of puberty, including precocious and delayed puberty, make up a large percentage of the children and adolescents who consult paediatric endocrinologists. An understanding of delayed or absent puberty requires a foundation in the normal processes regulating the onset of puberty, and factors essential for its progression and completion.

What is Hypogonadism?

Hypogonadism occurs when your sex glands produce little or no sex hormones. The sex glands, also called gonads, are primarily the testes in men and the ovaries in women. Sex hormones help control secondary sex characteristics, such as breast development in women, testicular development in men, and pubic hair growth. Sex hormones also play a role in the menstrual cycle and sperm production.

Hypogonadism may also be known as gonad deficiency. It may be called low serum testosterone or andropause when it happens in males. Most cases of this condition respond well to appropriate medical treatment.

Normal Puberty Development

Understanding delayed or absent puberty requires a foundation in the normal processes regulating the onset of puberty, and factors essential for its progression and completion. Normal puberty involves a complex interplay between the hypothalamus, pituitary gland, and the gonads (ovaries or testes).

• In Girls: Puberty typically begins between ages 8-13, with breast development being the first sign, followed by pubic hair growth and menarche (first period) around age 12-13.
• In Boys: Puberty typically begins between ages 9-14, with testicular enlargement being the first sign, followed by pubic hair growth, voice deepening, and growth spurt.

Types of Hypogonadism

• Hypergonadotropic Hypogonadism (Primary) — The gonads themselves are not functioning properly, leading to low sex hormone levels despite high FSH and LH levels from the pituitary. Causes include:
• Klinefelter Syndrome (in males)
• Turner Syndrome (in females)
• Chemotherapy or radiation therapy
• Testicular or ovarian injury
• Autoimmune conditions
• Hypogonadotropic Hypogonadism (Secondary) — The hypothalamus or pituitary gland is not producing enough FSH and LH, leading to low sex hormone levels. Causes include:
• Kallmann Syndrome
• Pituitary tumors or disorders
• Head trauma
• Excessive exercise or eating disorders
• Chronic illness
• Constitutional delay of growth and puberty (most common)

Signs and Symptoms of Delayed Puberty

• In Girls:
• No breast development by age 13
• No menarche by age 15
• Lack of pubic hair growth
• Short stature compared to peers
• Delayed growth spurt
• In Boys:
• No testicular enlargement by age 14
• Lack of pubic hair growth
• Voice remains high-pitched
• Delayed growth spurt
• Gynecomastia (breast enlargement)

When Should You Seek Evaluation?

Consider consulting a paediatric endocrinologist if:

• Your child shows no signs of puberty by age 14 (boys) or age 13 (girls)
• Puberty starts but then stops progressing
• Your child is significantly shorter than peers
• There is a family history of delayed puberty
• Your child has chronic medical conditions or eating disorders

Diagnosis & Treatment

Evaluation of delayed puberty includes a thorough medical history, physical examination (including Tanner staging), and specialized tests:

• Hormonal Blood Tests: FSH, LH, testosterone (in boys), estradiol (in girls), thyroid function tests, prolactin, and IGF-1
• Bone Age X-ray: To assess skeletal maturation
• MRI of the Brain: To rule out pituitary or hypothalamic tumors
• Karyotyping: To identify genetic conditions like Klinefelter or Turner Syndrome

Treatment options depend on the underlying cause:

• Constitutional Delay: Reassurance and monitoring, with periodic evaluation of progression
• Hormone Replacement Therapy: Low-dose sex hormones (testosterone for boys, estrogen for girls) to initiate and maintain puberty
• Treatment of Underlying Conditions: Addressing pituitary tumors, thyroid disorders, or other medical conditions
• Lifestyle Modifications: Proper nutrition and weight management

As a Consultant Endocrinologist, I specialize in the comprehensive evaluation and management of delayed puberty and hypogonadism in children and adolescents. Early identification and appropriate treatment can help ensure normal physical and emotional development.