title: Etiology of primary ovarian insufficiency in a series young girls presenting at a pediatric endocrinology center.
abstract: 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.affiliation: Université Paris Descartes and Fondation Ophtalmologique Adolphe de Rothschild, Paris, France, raja.brauner@wanadoo.fr.
authors.forename: Raja
authors.initials: R
authors.lastname: Brauner
authors.forename: Sophie
authors.initials: S
authors.lastname: Pierrepont
authors.forename: Joelle
authors.initials: J
authors.lastname: Bignon-Topalovic
authors.forename: Ken
authors.initials: K
authors.lastname: McElreavey
authors.forename: Anu
authors.initials: A
authors.lastname: Bashamboo
mesh_terms: D000293:Adolescent; D000568:Amenorrhea / Q000209:etiology; D001176:Arthrogryposis / Q000150:complications; D001327:Autoimmune Diseases / Q000150:complications; D001827:Body Height; D002524:Cerebellar Ataxia / Q000209:etiology; D002648:Child; D002987:Clitoris / Q000473:pathology; D018981:Congenital Disorders of Glycosylation / Q000150:complications; D005260:Female; D006801:Humans; D006984:Hypertrophy; D007223:Infant; D007621:Karyotyping; D007859:Learning Disabilities / Q000150:complications; D028361:Mitochondrial Diseases / Q000150:complications; D009154:Mutation; D016649:Primary Ovarian Insufficiency / Q000175:diagnosis / Q000209:etiology*; D011628:Puberty, Delayed; D051437:Renal Insufficiency / Q000150:complications; D054339:Steroidogenic Factor 1 / Q000235:genetics
chemical_list: D054339:Steroidogenic Factor 1