A. Primary amenorrhea is usually the result of a genetic or anatomic abnormality. Common etiologies of primary amenorrhea:

1. Chromosomal abnormalities causing gonadal dysgenesis: 45 percent

2. Physiologic delay of puberty: 20 percent

3. Mullerian agenesis: 15 percent

4. Transverse vaginal septum or imperforate hymen: 5 percent

5. Absent production of gonadotropin-releasing hormone (GnRH) by the hypothalamus: 5 percent

6. Anorexia nervosa: 2 percent

7. Hypopituitarism: 2 percent

Causes of Primary and Secondary Amenorrhea




Anatomic abnormalities

Congenital abnormality in Mullerian development

Isolated defect Testicular feminization syndrome

5-Alpha-reductase deficiency

Vanishing testes syndrome Defect in testis determining factor

Congenital defect of urogenital sinus development

Agenesis of lower vagina Imperforate hymen

Acquired ablation or scarring of the endometrium

Asherman's syndrome Tuberculosis

Disorders of hypothalamic-pituitary ovarian axis

Hypothalamic dysfunction

Pituitary dysfunction Ovarian dysfunction

Causes of Amenorrhea due to Abnormalities in the Hypothalamic-Pituitary-Ovarian Axis



Hypothalamic dysfunction

Functional hypothalamic amenorrhea

Weight loss, eating disorders



Severe or prolonged illness Congenital gonadotropin-releasing hormone deficiency Inflammatory or infiltrative diseases Brain tumors - eg, craniopharyngioma Pituitary stalk dissection or compression

Cranial irradiation

Brain injury - trauma, hemorrhage, hydrocephalus

Other syndromes - Prader-Willi, Laurence-Moon-Biedl

Pituitary dysfunction

Hyperprolactinemia Other pituitary tumors- acromegaly, corticotroph adenomas (Cushing's disease)

Other tumors - meningioma, germinoma, glioma Empty sella syndrome Pituitary infarct or apoplexy

Ovarian dysfunction

Ovarian failure (menopause) Spontaneous

Premature (before age 40 years) Surgical


Hyperthyroidism Hypothyroidism Diabetes mellitus Exogenous androgen use

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