UNLABELLED: The cause of the primary ovarian insufficiency (POI) remains unknown in the majority of cases. A retrospective study was carried out in 17 girls with POI and normal 46,XX karyotype evaluated before 20 years of age. The etiology of POI was determined in eight girls (group 1) and remained idiopathic in nine girls (group 2). In group 1, five patients had a medical history: cerebellar ataxia due to congenital disorder of glycosylation (CDG) 1 in three cases, mitochondrial disease in one case, and autoimmune deficiencies in one case. The diagnosis of POI was made on pubertal delay or primary amenorrhea in these five patients, whilst the others presented with clitoral hypertrophy at birth or short stature and pubertal delay in two cases with NR5A1 mutation or with short stature and learning difficulties in one case with mitochondrial disease. In group 2, associated diseases were arthrogryposis malformative, gut, and bladder malformations and kidney failure or parieto-occipital tumor. The genes tested (NR5A1, BMP15, GDF9, and NOBOX) showed no mutation. CONCLUSIONS: The frequency of defined etiologies (47%) is high. This is probably because of the recruitment of the cases at the pediatric center, where other somatic anomalies can lead to the accurate determination of the etiology.
UNLABELLED: The cause of the primary ovarian insufficiency (POI) remains unknown in the majority of cases. A retrospective study was carried out in 17 girls with POI and normal 46,XX karyotype evaluated before 20 years of age. The etiology of POI was determined in eight girls (group 1) and remained idiopathic in nine girls (group 2). In group 1, five patients had a medical history: cerebellar ataxia due to congenital disorder of glycosylation (CDG) 1 in three cases, mitochondrial disease in one case, and autoimmune deficiencies in one case. The diagnosis of POI was made on pubertal delay or primary amenorrhea in these five patients, whilst the others presented with clitoral hypertrophy at birth or short stature and pubertal delay in two cases with NR5A1 mutation or with short stature and learning difficulties in one case with mitochondrial disease. In group 2, associated diseases were arthrogryposis malformative, gut, and bladder malformations and kidney failure or parieto-occipital tumor. The genes tested (NR5A1, BMP15, GDF9, and NOBOX) showed no mutation. CONCLUSIONS: The frequency of defined etiologies (47%) is high. This is probably because of the recruitment of the cases at the pediatric center, where other somatic anomalies can lead to the accurate determination of the etiology.
Authors: Petri Luoma; Atle Melberg; Juha O Rinne; Jyrki A Kaukonen; Nina N Nupponen; Richard M Chalmers; Anders Oldfors; Ilkka Rautakorpi; Leena Peltonen; Kari Majamaa; Hannu Somer; Anu Suomalainen Journal: Lancet Date: 2004 Sep 4-10 Impact factor: 79.321
Authors: G Reato; L Morlin; S Chen; J Furmaniak; B Rees Smith; S Masiero; M P Albergoni; S Cervato; R Zanchetta; C Betterle Journal: J Clin Endocrinol Metab Date: 2011-06-15 Impact factor: 5.958
Authors: Sarah B Pierce; Ksenija Gersak; Rachel Michaelson-Cohen; Tom Walsh; Ming K Lee; Daniel Malach; Rachel E Klevit; Mary-Claire King; Ephrat Levy-Lahad Journal: Am J Hum Genet Date: 2013-03-28 Impact factor: 11.025