Table 4.

Diagnostic testing for conditions associated with primary ovarian insufficiency

Test(s)	Condition(s)
Karyotype/FISH (fluorescent in situ hybridization)	Suspected X monosomy, trisomy X, X chromosome deletions, mosaicism or balanced translocations
Genetic screening	Mutations in: FMR1, BMP-15, GDF-9, FOCL2, FSHR, LHR, INHA, GALT, AIRE
Serum enzyme levels, genetic screening for GALT gene (galactose-1-phosphate uridylyltransferase)	Classic galactosemia
Sex hormone levels, genetic screening for 17-hydroxylase	17-OH deficiency
3β-hydroxysteroid dehydrogenase autoantibodies, anti-thyroid/anti-parathyroid antibodies, genetic screening for AIRE gene	Autoimmune causes such as antiphospholipid syndrome, myasthenia gravis, rheumatoid arthritis, systemic lupus erythematosus

Abbreviations: FMR1, fragile X mental retardation 1; BMP-15, bone morphogenetic protein 15; GDF-9, growth differentiation factor 9; FSHR, FSH receptor; LHR, LH receptor, INHA, inhibin alpha; GALT, galactosemia; AIRE, autoimmune regulatory gene.