Premature Ovarian Failure 8; Pof8

Description

Premature ovarian failure (POF), the endpoint of primary ovarian insufficiency, affects approximately 1% of women worldwide. Patients with POF present with at least a 6-month history of amenorrhea and elevated plasma levels of follicle-stimulating hormone (more than 40 mIU per milliliter). The disorder can result from premature depletion of the follicle pool, follicular atresia, follicle growth arrest, or ovarian dysgenesis (see {233300}). In approximately 10 to 15% of patients with POF, a genetic cause has been determined (summary by Caburet et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of premature ovarian failure, see POF1 (OMIM ).

Clinical Features

Phenotypes and symptoms related to Premature Ovarian Failure 8; Pof8

  • Neoplasm
  • Carcinoma
  • Amenorrhea
  • Primary amenorrhea
  • Premature ovarian insufficiency
  • Ovarian neoplasm
  • Increased circulating gonadotropin level
  • Gonadoblastoma
  • Dysgerminoma
  • Choriocarcinoma

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Premature Ovarian Failure 8; Pof8 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Female Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

BMP15, SEMA3A, SEMA3E, FOXL2, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAG3, STAR, TAC3, TACR3, WNT4, WT1, WWOX, ZP1, ARL6 , (...)

View the complete list with 84 more genes
Specificity
1 %
Genes
50 %
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ROR2, SALL1, BMP15, BMP4, SEMA3A, SEMA3E, BMP7, FOXL2, BRDT, SOS1, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAG3, STAR, AURKC , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
50 %
Premature Ovarian Failure (POF) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

BMP15, FOXL2, STAG3, MCM8, PSMC3IP, HFM1, CLPP, MCM9, NOBOX, FIGLA, CYP17A1, CYP19A1, SOHLH1, EIF2B2, EIF2B4, EIF2B5, AIRE, FSHR, GALT, LMNA , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
50 %
Premature Ovarian Failure via STAG3 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

STAG3
Specificity
100 %
Genes
50 %
STAG3.

By Fulgent Genetics Fulgent Genetics (United States).

STAG3
Specificity
100 %
Genes
50 %
Phosphorus Female Infertility Panel.

By Phosphorus Diagnostics LLC (United States).

BMP15, FOXL2, STAG3, ZP1, CAPN10, THADA, NOBOX, CYP11A1, CYP17A1, CYP19A1, DENND1A, F2, F5, FMR1, FSHB, FSHR, GALT, GDF9, GNAS, GNRHR , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
50 %

You can get up to -2 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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