MedGen

Any primary ovarian failure in which the cause of the disease is a mutation in the NOBOX gene. [from MONDO]

Premature ovarian failure-23 (POF23) is characterized by female infertility due to reduction of ovarian reserve. After normal menarche, patients experience oligomenorrhea and secondary amenorrhea (Caburet et al., 2019). For a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (311360). [from OMIM]

Premature ovarian failure-24 (POF24) is characterized by the development of secondary amenorrhea in the fourth decade of life, with a dearth of antral follicles detected on ultrasound. Patients may experience subfertility or infertility (He et al., 2021). For a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (311360). [from OMIM]

Premature ovarian failure-16 (POF16) is characterized by onset of amenorrhea early in the fourth decade of life, accompanied by elevated follicle-stimulating hormone (FSH; see 136530) levels and low estradiol levels. Ovaries are smaller than normal and show a solid echo pattern with no antral follicle (Zhang et al., 2018). [from OMIM]