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Premature ovarian failure 1(POF1)

MedGen UID:
411391
Concept ID:
C2749126
Synonyms: FMR1-Related Disorders; FMR1-Related Primary Ovarian Insufficiency; HYPERGONADOTROPIC OVARIAN FAILURE, X-LINKED; POF1; PREMATURE OVARIAN FAILURE, X-LINKED; Primary ovarian insufficiency, fragile X-associated
Modes of inheritance:
X-linked inheritance
MedGen UID:
66838
Concept ID:
C0241764
Genetic Function
Sources: HPO, OMIM
A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome.
 
Gene (location): FMR1 (Xq27.3)
OMIM®: 311360

Definition

Fragile X-associated primary ovarian insufficiency (FXPOI) is a condition that affects women and is characterized by reduced function of the ovaries. The ovaries are the female reproductive organs in which egg cells are produced. As a form of primary ovarian insufficiency, FXPOI can cause irregular menstrual cycles, early menopause, an inability to have children (infertility), and elevated levels of a hormone known as follicle stimulating hormone (FSH). FSH is produced in both males and females and helps regulate the development of reproductive cells (eggs in females and sperm in males). In females, the level of FSH rises and falls, but overall it increases as a woman ages. In younger women, elevated levels may indicate early menopause and fertility problems.The severity of FXPOI is variable. The most severely affected women have overt POI (formerly called premature ovarian failure). These women have irregular or absent menstrual periods and elevated FSH levels before age 40. Overt POI often causes infertility. Other women have occult POI; they have normal menstrual periods but reduced fertility, and they may have elevated levels of FSH (in which case, it is called biochemical POI). The reduction in ovarian function caused by FXPOI results in low levels of the hormone estrogen, which leads to many of the common signs and symptoms of menopause, such as hot flashes, insomnia, and thinning of the bones (osteoporosis). Women with FXPOI undergo menopause an average of 5 years earlier than women without the condition. [from GTR]

Additional description

From GHR
Fragile X-associated primary ovarian insufficiency (FXPOI) is a condition that affects women and is characterized by reduced function of the ovaries. The ovaries are the female reproductive organs in which egg cells are produced. As a form of primary ovarian insufficiency, FXPOI can cause irregular menstrual cycles, early menopause, an inability to have children (infertility), and elevated levels of a hormone known as follicle stimulating hormone (FSH). FSH is produced in both males and females and helps regulate the development of reproductive cells (eggs in females and sperm in males). In females, the level of FSH rises and falls, but overall it increases as a woman ages. In younger women, elevated levels may indicate early menopause and fertility problems.The severity of FXPOI is variable. The most severely affected women have overt POI (formerly called premature ovarian failure). These women have irregular or absent menstrual periods and elevated FSH levels before age 40. Overt POI often causes infertility. Other women have occult POI; they have normal menstrual periods but reduced fertility, and they may have elevated levels of FSH (in which case, it is called biochemical POI). The reduction in ovarian function caused by FXPOI results in low levels of the hormone estrogen, which leads to many of the common signs and symptoms of menopause, such as hot flashes, insomnia, and thinning of the bones (osteoporosis). Women with FXPOI undergo menopause an average of 5 years earlier than women without the condition.  https://ghr.nlm.nih.gov/condition/fragile-x-associated-primary-ovarian-insufficiency

Clinical features

Menstrual irregularities
MedGen UID:
56379
Concept ID:
C0156404
Finding
Deviations from the normal process; e.g. delayed, difficult, profuse, scanty, unusual bleeding, etc.
Increased circulating gonadotropin level
MedGen UID:
400008
Concept ID:
C1862265
Finding
Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland.
Premature ovarian failure
MedGen UID:
9963
Concept ID:
C0025322
Disease or Syndrome
Cessation of menstruation before the age of 40. Symptoms include hot flashes, night sweats, mood swings, and decreased sex drive.
Increased circulating gonadotropin level
MedGen UID:
400008
Concept ID:
C1862265
Finding
Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland.
Premature ovarian failure
MedGen UID:
9963
Concept ID:
C0025322
Disease or Syndrome
Cessation of menstruation before the age of 40. Symptoms include hot flashes, night sweats, mood swings, and decreased sex drive.
Abnormality of metabolism/homeostasis
MedGen UID:
867398
Concept ID:
C4021768
Finding
Menstrual irregularities
MedGen UID:
56379
Concept ID:
C0156404
Finding
Deviations from the normal process; e.g. delayed, difficult, profuse, scanty, unusual bleeding, etc.
Increased circulating gonadotropin level
MedGen UID:
400008
Concept ID:
C1862265
Finding
Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland.

Professional guidelines

PubMed

Biancalana V, Glaeser D, McQuaid S, Steinbach P
Eur J Hum Genet 2015 Apr;23(4):417-25. Epub 2014 Sep 17 doi: 10.1038/ejhg.2014.185. PMID: 25227148Free PMC Article
Finucane B, Abrams L, Cronister A, Archibald AD, Bennett RL, McConkie-Rosell A
J Genet Couns 2012 Dec;21(6):752-60. Epub 2012 Jul 14 doi: 10.1007/s10897-012-9524-8. PMID: 22797890

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