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1.

Premature ovarian failure

Premature ovarian failure is clearly a heterogeneous disorder. The terms 'hypergonadotropic ovarian failure' and 'hypergonadotropic ovarian dysgenesis' (see ODG1, 233300) have been used to indicate a group of disorders in which amenorrhea associated with elevated levels of serum gonadotropins occurs long before the age of 40 years (Coulam, 1982). Cytogenetic studies of X-chromosome aberrations have suggested that it is mainly the long arm of the X chromosome that is involved in defects of ovulation (Bione et al., 1998). Genetic Heterogeneity of Premature Ovarian Failure Mutations in genes identified within a region defined as POF2 (Xq13.3-q21.1) have been found to cause other forms of POF: POF2A (300511) by mutation in the DIAPH2 gene (300108) and POF2B (300604) by mutation in the POF1B gene (300603). See also POF3 (608996), caused by mutation in the FOXL2 gene (605597) on chromosome 3q22; POF4 (see 300510), caused by mutation in the BMP15 gene (300247) on chromosome Xp11; POF5 (611548), caused by mutation in the NOBOX gene (610934) on chromosome 7q35; POF6 (612310), caused by mutation in the FIGLA gene (608697) on chromosome 2p13; POF7 (612964), caused by mutation in the NR5A1 gene (184757) on chromosome 9q33; POF8 (615723), caused by mutation in the STAG3 gene (608489) on chromosome 7q22; POF9 (615724), caused by mutation in the HFM1 gene (615684) on chromosome 1p22; POF10 (612885), caused by mutation in the MCM8 gene (608187) on chromosome 20p12; POF11 (616946), caused by mutation in the ERCC6 gene (609413) on chromosome 10q11; POF12 (616947), caused by mutation in the SYCE1 gene (611486) on chromosome 10q26; and POF13 (617442), caused by mutation in the MSH5 gene (603382) on chromosome 6p22. [from GTR]

MedGen UID:
38820
Concept ID:
C0085215
Disease or Syndrome
2.

Primary ovarian failure

Malfunctioning of the ovaries such that a girl never begins menstruation. [from HPO]

MedGen UID:
504864
Concept ID:
CN001445
Finding
3.

Diagnosis

The determination of the nature of a disease or condition, or the distinguishing of one disease or condition from another. Assessment may be made through physical examination, laboratory tests, or the likes. Computerized programs may be used to enhance the decision-making process. [from MeSH]

MedGen UID:
8354
Concept ID:
C0011900
Finding
4.

Estradiol

A steroid sex hormone vital to the maintenance of fertility and secondary sexual characteristics in females. Typically esterified, estradiol derivatives are formulated for oral or parenteral administration. As the primary, most potent estrogen hormone produced by the ovaries, estradiol binds to and activates specific nuclear receptors. Estradiol exhibits mild anabolic and metabolic properties, and increases blood coagulability. [from NCI]

MedGen UID:
4551
Concept ID:
C0014912
Hormone; Organic Chemical; Pharmacologic Substance
5.

Chronic disease

Diseases which have one or more of the following characteristics: they are permanent, leave residual disability, are caused by nonreversible pathological alteration, require special training of the patient for rehabilitation, or may be expected to require a long period of supervision, observation, or care. (Dictionary of Health Services Management, 2d ed) [from MeSH]

MedGen UID:
3453
Concept ID:
C0008679
Disease or Syndrome
6.

Emotional

Excessively affected by emotion. [from NCI]

MedGen UID:
167260
Concept ID:
C0849912
Finding
7.

Chronic

Slow, creeping onset, slow progress and long continuance of disease manifestations. [from HPO]

MedGen UID:
104657
Concept ID:
C0205191
Temporal Concept
8.

Source

Where something is available or from where it originates. [from NCI]

MedGen UID:
99076
Concept ID:
C0449416
Finding
9.

Progestin preparation

Compounds that interact with PROGESTERONE RECEPTORS in target tissues to bring about the effects similar to those of PROGESTERONE. Primary actions of progestins, including natural and synthetic steroids, are on the UTERUS and the MAMMARY GLAND in preparation for and in maintenance of PREGNANCY. [from MeSH]

MedGen UID:
18660
Concept ID:
C0033306
Hormone; Organic Chemical; Pharmacologic Substance
10.

Aerodiol

MedGen UID:
365356
Concept ID:
C1951509
Hormone; Organic Chemical; Pharmacologic Substance
11.

Female Urogenital Diseases

Pathological processes of the female URINARY TRACT and the reproductive system (GENITALIA, FEMALE). [from MeSH]

MedGen UID:
318599
Concept ID:
C1720887
Disease or Syndrome
12.

Female Urogenital Diseases and Pregnancy Complications

Pathological processes of the female URINARY TRACT, the reproductive system (GENITALIA, FEMALE), and disorders related to PREGNANCY. [from MeSH]

MedGen UID:
318565
Concept ID:
C1720765
Disease or Syndrome
13.

Vivelle

MedGen UID:
196344
Concept ID:
C0724374
Hormone; Organic Chemical; Pharmacologic Substance
14.

Ovocylin

MedGen UID:
148487
Concept ID:
C0699359
Hormone; Organic Chemical; Pharmacologic Substance
15.

Estrace

MedGen UID:
148486
Concept ID:
C0699352
Hormone; Organic Chemical; Pharmacologic Substance
16.

Abnormality of the ovary

A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors. [from NCI]

MedGen UID:
45256
Concept ID:
C0029928
Disease or Syndrome
17.

Sex hormone

A class of steroid hormones that specifically binds to and activates androgen, progesterone or estrogen receptors. Sex steroids activate various signaling pathways involved in the development and maintenance of secondary sexual characteristics, reproductive processes, blood salt balance, response to stress, neuronal function and a number of metabolic processes. [from NCI]

MedGen UID:
19951
Concept ID:
C0036884
Hormone; Pharmacologic Substance
18.

Pregnancy

The state or condition of having a developing embryo or fetus in the body (uterus), after union of an ovum and spermatozoon, during the period from conception to birth. [from NCI]

MedGen UID:
10895
Concept ID:
C0032961
Organism Function
19.

Premature ovarian failure

Cessation of menstruation before the age of 40. Symptoms include hot flashes, night sweats, mood swings, and decreased sex drive. [from NCI]

MedGen UID:
9963
Concept ID:
C0025322
Disease or Syndrome
20.

Gonadal Disorder

A non-neoplastic or neoplastic disorder that affects the testis or the ovary. [from NCI]

MedGen UID:
9074
Concept ID:
C0018050
Disease or Syndrome
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