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GTR Home > Tests > Premature ovarian failure: Full gene sequencing panel

Indication

This is a clinical test intended for Help: Mutation Confirmation, Risk Assessment, Diagnosis

Clinical summary

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Imported from OMIM

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).

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Hirsutism
  • Premature ovarian insufficiency
  • Delayed puberty
  • Primary amenorrhea
  • Secondary amenorrhea
  • Streak ovary
  • Uterine hypoplasia
  • Hypergonadotropic hypogonadism
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Inheritance pattern

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X-linked inheritance

Conditions tested

Target population

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Not provided

Clinical validity

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Not provided

Clinical utility

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Not provided

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