Endocrine, nutritional and metabolic diseases
Disorders of other endocrine glands
Autosomal recessive
7q22.1
Premature ovarian failure or primary ovarian insufficiency are terms used interchangeably to describe early menopause in women. The condition is characterised by amenorrhea and loss of fertility. While there are several causes for POF, including infections and autoimmune disease, about 10-15% of cases are linked to an underlying genetic defect. POF8 is caused by mutations in the STAG3 gene.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 615723.1.1 | Lebanon | Female | Yes | Yes | Primary amenorrhea; Pubertal developmen... Primary amenorrhea; Pubertal developmental failure in females  | NM_001282716.1:c.1945_1946CT[3] | Homozygous | Autosomal, Recessive | Le Quesne Stabej et al, 2016 | Proband |
| 615723.1.2 | Lebanon | Female | Yes | Yes | Primary amenorrhea; Pubertal developmen... Primary amenorrhea; Pubertal developmental failure in females | NM_001282716.1:c.1945_1946CT[3] | Homozygous | Autosomal, Recessive | Le Quesne Stabej et al, 2016 | Sister of 615723.1.1 |