- Premature ovarian insufficiency (HP:0008209): Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian insuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea. Evidence: PCS. (PMID:30010909)
- Reduced antral follicle count (HP:0033085): A count of antral follicles that is lower than normal for age. Evidence: IEA. Frequency: 1/1. (PMID:30010909)
- Elevated circulating follicle stimulating hormone level (HP:0008232): An elevated concentration of follicle-stimulating hormone in the blood. Evidence: PCS. (PMID:30010909)
- Decreased serum estradiol (HP:0008214): A reduction below normal concentration of estradiol in the circulation. Evidence: PCS. (PMID:30010909)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:30010909)
These phenotypes are associated with the disease premature ovarian failure 16 (OMIM:618723).