ovarian dysgenesis 1; gonadal dysgenesis XX type; XX gonadal dysgenesis (XXGD); hereditary hypergonadotropic ovarian failure; hypergonadotropic ovarian dysgenesis with normal karyotype

Genetics

• autosomal recessive
• associated with defects in FSHR

Clinical manifestations

• primary amenorrhea
• variable development of secondary sex characteristics

Laboratory

• high serum FSH & serum LH
• FSHR gene mutation

More general terms

• ovarian dysgenesis

Additional terms

• follicle-stimulating hormone receptor; FSH-R; follitropin receptor (FSHR, LGR1)

Database

• OMIM: https://mirror.omim.org/entry/233300]