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ovarian dysgenesis

Wednesday 22 December 2004

Definition: Ovarian dysgenesis (OD) which is characterised by the loss of follicles before puberty. It describes the most severe premature ovarian failure (POF) outcome.

Premature ovarian failure (POF) is a heterogeneous group of disorders with amenorrhea and high serum gonadotropins in women of less than 40 years.

Associations

- renal dysplasia (#12524091#)
- sensorineural hearing loss in Perrault syndrome (ovarian dysgenesis with sensorineural deafness) (MIM.233400)

  • mutations in mitochondrial histidyl tRNA synthetase HARS2 (#21464306#)

References

- Copy Number Variants in Premature Ovarian Failure and Ovarian Dysgenesis.
Ledig S, Röpke A, Wieacker P. Sex Dev. 2010 Jul 3. PMID: #20606390#