Puberty: Normal vs. Abnormal Development, Endocrinology & Common Disorders

Puberty in girls is the period that links childhood to adulthood. It is the phase of gradual development of secondary sexual characteristics. This stage includes profound biological, morphological, and psychological changes leading to full sexual maturity.

Normal Puberty

Morphological Changes

  • Breast Budding (Thelarche)
  • Pubic & Axillary Hair Growth (Adrenarche)
  • Growth in Height
  • Menstruation (Menarche)

Hormonal Changes

  • Thyroid Gland - Leptin production
  • Menarche - Hypothalamic-Pituitary-Gonadal axis activation
  • Adrenal Glands - Steroid hormone production
  • Gonadarche - Initiation of ovarian function

Genital Changes

  • Shape - Elongation and increased bulk
  • Follicular Enlargement - Proliferation of stromal cells
  • Vagina - Increased estrogen levels, glycogen deposits → Acidic pH due to Lactobacilli
  • Breasts - Increased size, fat deposition, and duct system development
  • Tanner Staging - Classification of pubertal development into five stages

Abnormal Puberty

Precocious Puberty

Defined as the appearance of secondary sexual characteristics before the age of 8 years or menarche before 10 years.

1.    Gonadotropin-Dependent (True/Complete Precocious Puberty)

o   Constitutional (Most common)

o   Juvenile Primary Hypothyroidism

o   CNS lesions (Tumors, Trauma, Infections - Tuberculosis, Encephalitis)

o   Neurofibromatosis, Craniopharyngioma

2.    Gonadotropin-Independent (Peripheral Precocious Puberty)

o   Granulosa Cell Tumors

o   Theca Cell Tumors

o   Leydig Cell Tumors

o   Choriocarcinoma

o   Arrhenoblastoma

o   McCune-Albright Syndrome

o   Adrenal Hyperplasia or Tumors

o   Hepatoblastoma

o   Exogenous Estrogen or Androgen Exposure

Variants of Precocious Puberty

  • Premature Thelarche - Isolated breast development before 8 years
  • Premature Pubarche - Early pubic or axillary hair growth before 8 years
  • Premature Menarche - Isolated vaginal bleeding without other secondary sexual characteristics

Delayed Puberty

  • Absence of breast development & pubic hair by 13-14 years
  • Absence of menarche by 16 years

1.    Causes

o   Hypogonadotropic Hypogonadism (Low gonadotropins, underactive gonads)

§  Gonadal Dysgenesis (Turner Syndrome - 45XO, Pure Gonadal Dysgenesis - 46XX, 46XY)

§  Ovarian Failure (46XX)

§  Gonadotropin Deficiency (Isolated Gonadotropin Deficiency)

§  Constitutional Delay

§  Chronic Illness, Malnutrition

§  Primary Hypothyroidism

o   Anatomical Causes

§  Müllerian Agenesis

§  Imperforate Hymen

§  Transverse Vaginal Septum

Treatment

  • Gonadotropin Therapy - If due to pituitary or hypothalamic dysfunction
  • Estrogen Therapy - For hypogonadism
  • Corrective Surgery - For anatomical defects.

Endocrinology in Puberty

1.    Hormonal Changes in Puberty

o   Thyroid Gland: Secretion of leptin.

o   Menarche: Involves the hypothalamo-pituitary-gonadal axis activation.

o   Adrenal Glands: Responsible for steroid production (adrenarche).

o   Gonadarche: Initiation of ovarian function.

2.    First Menstruation (Menarche)

o   The first menstrual cycle is called menarche.

o   Age of onset: 10-16 years (Average 13 years).

o   Estrogen levels increase, leading to endometrial proliferation.

o   The first menstrual cycle is usually anovulatory.

3.    Changes in Genital Organs

o   Shape: Elongated and bulkier.

o   Follicular Enlargement: Stimulation of stromal cells.

o   Vagina:

§  Increased estrogen → More glycogen → Increased Lactobacilli activity → Acidic pH (pH 4-5).

§  Becomes more active and sensitive.

o   Breasts:

§  Enlargement of mons pubis & labia majora.

§  Duct system proliferation and fat deposition.

§  More alveolar development.

4.    Tanner Staging (Classification of Pubertal Development)

Common Disorders in Puberty

1.    Precocious Puberty

o   The term precocious puberty is used for girls who exhibit any secondary sexual characteristics before the age of 8 or menstruation before the age of 10.

Types:

o   Gonadotropin-Dependent (Complete, Central, Isosexual or True Precocious Puberty)

§  Constitutional (Most Common)

§  Juvenile Primary Hypothyroidism

§  CNS Lesions (Tumors, Trauma, Infections)

§  Tuberculosis

§  Encephalitis

§  Neurofibromatosis

§  Craniopharyngioma

o   Gonadotropin-Independent (Peripheral Precocious Puberty)

§  Granulosa Cell Tumor

§  Theca Cell Tumor

§  Leydig Cell Tumor

§  Choriocarcinoma

§  Arrhenoblastoma

§  McCune-Albright Syndrome

§  Adrenal Hyperplasia or Tumors

§  Hepatoblastoma

§  Exogenous Estrogen or Androgen Intake

2.    Variants of Precocious Puberty

o   Premature Thelarche: Isolated breast development before the age of 8 years, commonly seen in 2-4 years old girls.

o   Premature Pubarche: Isolated axillary and pubic hair growth before 8 years.

o   Premature Menarche: Isolated cyclic vaginal bleeding without the appearance of other secondary sexual characteristics.

3.    Delayed Puberty

o   Absence of breast development and pubic hair by 13-14 years.

o   Absence of menarche by 16 years.

Causes:

o   Hypogonadotropic Hypogonadism (Low gonadotropins, underactive gonads)

§  Gonadal Dysgenesis (Turner Syndrome - 45XO, Pure Gonadal Dysgenesis - 46XX, 46XY)

§  Ovarian Failure (46XX)

§  Gonadotropin Deficiency (Isolated Gonadotropin Deficiency)

§  Constitutional Delay

§  Chronic Illness, Malnutrition

§  Primary Hypothyroidism

o   Anatomical Causes

§  Müllerian Agenesis

§  Imperforate Hymen

§  Transverse Vaginal Septum

4.    Treatment

o   Gonadotropin Therapy - If due to pituitary or hypothalamic dysfunction.

o   Estrogen Therapy - For hypogonadism.

o   Corrective Surgery - For anatomical defects.

 


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