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Ovarian dysgenesis 2(ODG2)

MedGen UID:
336903
•Concept ID:
C1845294
•
Disease or Syndrome
Synonyms: ODG2; OVARIAN DYSGENESIS, HYPERGONADOTROPIC, X-LINKED; OVARIAN FAILURE, HYPERGONADOTROPIC, DUE TO OVARIAN DYSGENESIS
 
Gene (location): BMP15 (Xp11.22)
 
Monarch Initiative: MONDO:0010349
OMIM®: 300510

Definition

Hypergonadotropic ovarian failure is a heterogeneous disorder that, in the most severe forms, is a result of ovarian dysgenesis. Ovarian dysgenesis accounts for about half the cases of primary amenorrhea (Timmreck and Reindollar, 2003). Most cases are associated with major X chromosome abnormalities. Accordingly, genetic studies have identified several loci at Xq and Xp11.2-p.22.1 whose functions are relevant for ovarian development (Zinn et al., 1998; Simpson and Rajkovic, 1999; Marozzi et al., 2000). [from OMIM]

Clinical features

From HPO
Premature ovarian insufficiency
MedGen UID:
9963
•Concept ID:
C0025322
•
Disease or Syndrome
Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian inssuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea.
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Primary amenorrhea
MedGen UID:
115918
•Concept ID:
C0232939
•
Disease or Syndrome
Abnormally late or absent menarche in a female with normal secondary sexual characteristics.
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Secondary amenorrhea
MedGen UID:
115919
•Concept ID:
C0232940
•
Disease or Syndrome
The cessation of menstruation for six months or more in a female that is not pregnant, breastfeeding or menopausal.
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Streak ovary
MedGen UID:
78597
•Concept ID:
C0266371
•
Congenital Abnormality
A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells.
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Uterine hypoplasia
MedGen UID:
120575
•Concept ID:
C0266399
•
Congenital Abnormality
Underdevelopment of the uterus.
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Hirsutism
MedGen UID:
42461
•Concept ID:
C0019572
•
Disease or Syndrome
Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).
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Delayed puberty
MedGen UID:
46203
•Concept ID:
C0034012
•
Pathologic Function
Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.
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Hypergonadotropic hypogonadism
MedGen UID:
184926
•Concept ID:
C0948896
•
Disease or Syndrome
Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay.
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Professional guidelines

PubMed

Chromosome studies and fertility treatment in women with ovarian failure.
Hens L, Devroey P, Van Waesberghe L, Bonduelle M, Van Steirteghem AC, Liebaers I
Clin Genet 1989 Aug;36(2):81-91. doi: 10.1111/j.1399-0004.1989.tb03169.x. PMID: 2766572

Recent clinical studies

Etiology

Chromosome studies and fertility treatment in women with ovarian failure.
Hens L, Devroey P, Van Waesberghe L, Bonduelle M, Van Steirteghem AC, Liebaers I
Clin Genet 1989 Aug;36(2):81-91. doi: 10.1111/j.1399-0004.1989.tb03169.x. PMID: 2766572

Diagnosis

Pituitary origin of persistently elevated human chorionic gonadotropin in a patient with gonadal failure.
Merhi Z, Pollack SE
Fertil Steril 2013 Jan;99(1):293-296. Epub 2012 Sep 29 doi: 10.1016/j.fertnstert.2012.08.051. PMID: 23025879

Supplemental Content

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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
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      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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