Delayed puberty - causes, symptoms, diagnosis, treatment, pathology

Summary

Puberty marks the transition to sexual maturity, typically delayed if it hasn't begun by age 13 in females and 14 in males. It involves the hypothalamic-pituitary-gonadal axis, which controls sexual development and reproduction through hormone release. This process leads to the development of primary and secondary sex characteristics as outlined by the Tanner scale. Delays can be due to hypogonadism, with causes ranging from primary gonadal dysfunction to secondary hormonal imbalances. Constitutional delay is a temporary delay often with genetic roots, not typically resulting in infertility.

Takeaways

• 🕒 Puberty typically begins by age 13 for females and age 14 for males, with later onset considered delayed.
• 🌐 The hypothalamic-pituitary-gonadal axis is crucial for sexual development and reproduction.
• 🔍 Gonadotropin-releasing hormone from the hypothalamus stimulates the pituitary gland to release hormones that act on the gonads.
• 🚹 In males, testosterone is key for sexual organ development and sperm production during puberty.
• 🚺 In females, estrogen and progesterone are produced by the ovaries and regulate the menstrual cycle and egg maturation.
• 🌱 Primary and secondary sex characteristics develop due to sex hormones, with puberty marked by changes like pubic hair and breast development.
• 📊 The Tanner scale outlines the stages of sexual maturity, from pre-puberty to adult contours.
• 🚨 Delayed puberty can indicate hypogonadism, which may lead to infertility if not addressed.
• 🏥 Hypogonadism can be primary (due to gonadal dysfunction) or secondary (due to hypothalamic or pituitary dysfunction).
• 🧬 Constitutional delay is a temporary delay in puberty often linked to genetics and does not typically result in infertility.
• 🩺 Diagnosis of delayed puberty involves comparing development to the Tanner scale, hormone level tests, and medical history.

Q & A

What is the age considered for delayed puberty in females and males?

Puberty is considered delayed if it hasn't started for a female by age 13 and for a male by age 14.

What is the hypothalamic pituitary gonadal axis and its role?

The hypothalamic pituitary gonadal axis is a system of hormonal signaling between the hypothalamus, pituitary gland, and gonads (testes or ovaries) that controls sexual development and reproduction.

What is gonadotropin-releasing hormone and its function?

Gonadotropin-releasing hormone is released into the hypothalamus and stimulates the pituitary gland to release gonadotrophin hormones, luteinizing hormone, and follicle-stimulating hormone.

How do gonadotrophin hormones affect the gonads?

Gonadotrophin hormones stimulate the gonads to produce sex-specific hormones: estrogen and progesterone in females, and testosterone in males.

What are the primary functions of testosterone during male puberty?

Testosterone helps the external sex organs to differentiate into male genitals, causes the testes to descend, and stimulates the production of sperm by the testes.

What are estrogen and progesterone responsible for in females?

Estrogens and progesterone regulate monthly changes to the ovary and uterine wall, promoting egg maturation, ovulation, and changes as part of the menstrual cycle.

What are primary and secondary sex characteristics?

Primary sex characteristics refer to the genitals involved in reproduction, while secondary sex characteristics are sex-specific physical traits not directly involved in reproduction, such as pubic hair and breasts.

What is the Tanner scale and its significance?

The Tanner scale is a set of developmental stages that males and females go through as they develop sex characteristics and become sexually mature, focusing on pubic hair appearance and genital development.

What are the two main causes of hypogonadism?

The two main causes of hypogonadism are primary hypogonadism, caused by dysfunction of the gonads, and secondary hypogonadism, caused by dysfunction of the hypothalamus or pituitary gland.

What is constitutional delay and how does it differ from secondary hypogonadism?

Constitutional delay is a temporary delay in puberty that is not pathologic and is often genetic, differing from secondary hypogonadism in that puberty can still occur naturally at a later age.

How is delayed puberty diagnosed and treated?

Delayed puberty is diagnosed by comparing sexual development with the Tanner scale, blood tests, and medical history. Treatment depends on the cause and may include hormone therapy or infertility treatments.