Causes of Primary Amenorrhea - Differential Diagnosis ...

Causes of Primary Amenorrhea - Differential Diagnosis Algorithm

No onset of menarche by age 16 with secondary sexual characteristics OR No onset of menarche by age 14 without secondary sexual characteristics

Ovarian Etiology - High FSH, Low Estrogen:

 • 46, XX Gonadal Dysgenesis (e.g. Fragile X, Balanced Translocations, Turner's mosaic)

 • 46, XY Gonadal Dysgenesis (e.g. Swyer's Syndrome)

 • 45, XO Turner syndrome

 • Savage syndrome (ovarian resistance)

 • Premature Ovarian Failure (Autoimmune, Iatrogenic)

Receptor Abnormalities and Enzyme Deficiencies:

 • Androgen insensitivity

 • 5-a Reductase deficiency

 • 17- a Hydroxylase deficiency

 • Vanishing Testes Syndrome

 • Absent Testes Determining Factor

Congenital Outflow Tract Anomalies:

 • Imperforate hymen

 • Transverse vaginal septum

 • Vaginal agenesis (Mayer-Rokitansky-Küster-Hauser syndrome)

 • Cervical stenosis

Central - Hypothalamic:

 • Functional (e.g. eating disorder, weight loss, stress, excessive exercise, illness)

 • Congenital GnRH deficiency (Kallmann syndrome)

 • Constitutional delay of puberty

Central - Pituitary:

 • Surgery

 • Irradiation

 • Tumor, Infiltration

 • Hyperprolactinemia

 • Hypothyroidism

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