ovarian dysgenesis
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#