Table 1.

Causes of primary ovarian insufficiency

Genetic causes of POI

X-chromosome disorders

Monosomy X, Turner syndrome

X isochromosome

Genetic disorders on the long and short arm of the X chromosome

Various microdeletions

POI in 46,XX females

Gonadal dysgenesis

Cerebellar ataxia and gonadal dysgenesis

Gonadal dysgenesis and multiple malformation syndromes

Mutations in enzymes required for reproduction

Galactose 1-phosphate uridylyltransferase deficiency (galactosemia)

Carbohydrate-deficient glycoprotein deficiency

17 α-hydroxylase/17,20 desmolase deficiency

Aromatase mutations

Mutations in hormone receptors/actions

Mutations in FSH/luteinizing hormone receptors

Autoimmune-associated causes of POI

Autoimmune polyendocrine syndromes

Hypothyroidism, adrenal insufficiency, hypoparathyroidism and type 1 diabetes mellitus

Dry eye syndrome

Myasthenia gravis

Rheumatoid arthritis

Systemic lupus erythematosus

Congenital thymic aplasia

Infectious causes of POI

Mumps

Iatrogenic causes of POI

Chemotherapy

Radiation therapy

Surgery

Abbreviations: POI, primary ovarian insufficiency; FSH, follicle-stimulating hormone.