Case report of a paraovarian cyst in a 15-year-old adolescent girl with premature ovarian failure

2017 ◽  
Vol 139 (2) ◽  
pp. 245-246
Author(s):  
Zhiyi Zhao ◽  
Ting Zhou ◽  
Shan Zhao ◽  
Wei Zhang ◽  
Fengnian Rong
2013 ◽  
Vol 173 (12) ◽  
pp. 1627-1630 ◽  
Author(s):  
Cengiz Kara ◽  
Ala Üstyol ◽  
Ayşegül Yılmaz ◽  
Engin Altundağ ◽  
Gönül Oğur

2005 ◽  
Vol 153 (3) ◽  
pp. 353-358 ◽  
Author(s):  
K Raile ◽  
H Stobbe ◽  
R B Tröbs ◽  
W Kiess ◽  
R Pfäffle

Blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), an autosomal dominant syndrome in which eyelid malformation is associated with (type I BPES) or without premature ovarian failure (type II BPES). Mutations of a putative winged helix/forkhead transcription factor FOXL2 account for both types of BPES. We report on a 16-year-old adolescent girl with blepharophimosis and ptosis. Subsequently she developed oligomenorrhea, secondary amenorrhea for 6 months, and an extremely large cyst of one ovary. The cyst contained 8 l of cyst fluid and histopathology displayed a large corpus luteum cyst. Following laparotomy, gonadotropin levels were elevated (LH 17.2 U/l, FSH 29.4 U/l) and estradiol levels decreased (67 pmol/l). Because of clinical aspects of BPES and abnormal ovarian function we suspected a mutation of her FOXL2 gene and found a new in-frame mutation (904_939dup36) on one allele, leading to a 12 alanine expansion within the polyalanine domain. We conclude that the FOXL2 mutation 904_939dup36 may account not only for blepharophimosis and ptosis but also for ovarian dysfunction and growth of the large corpus luteum cyst. In contrast to known FOXL2 mutations with polyalanine expansions and association with BPES type II, clinical aspects of our girl may indicate some degree of ovarian dysfunction that might finally lead to BPES type I with premature ovarian failure.


1999 ◽  
Vol 14 (7) ◽  
pp. 1777-1782 ◽  
Author(s):  
S.N. Kalantaridou ◽  
D.T. Braddock ◽  
N.J. Patronas ◽  
L.M. Nelson

2013 ◽  
Vol 2013 ◽  
pp. 1-5 ◽  
Author(s):  
Emma Colao ◽  
Teresa Granata ◽  
Marco F. M. Vismara ◽  
Francesco Bombardiere ◽  
Donatella Nocera ◽  
...  

Objective. To assess aetiology of a POF in a 33-year-old woman and, if possible, plan a cure.Design. Case report.Setting. medical genetics diagnostic unit in a university hospital.Patient. A 33-year-old woman with premature ovarian failure (POF).Intervention(s). Genetic counseling, karyotyping, FISH study.Result(s). Turner-like diagnosis.Conclusion(s). Most cases of POF remain idiopathic. Turner syndrome can occur in very different phenotypes; cytogenetic and molecular profiling can provide a definitive diagnosis in cases with nonclassical phenotype.


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