title: [Atypical presentation of a premature ovarian failure with deletion of X chromosome].
abstract: In order to illustrate a particular clinical presentation of premature ovarian failure, we report the case of a 16-year-old girl, who presented with primary amenorrhea. Physical examination discovered central obesity and an extent acanthosis nigricans in the neck and in the axillae. Pubertal stage was quoted S3P3 and external genitalia were normal. Oral glucose test revealed glucose intolerance and hormonal investigation discovered hyperinsulinemia and elevated level of FSH. Pelvic echography found infantile internal genitalia and genetic analysis discovered a deletion in the long arm of one of X chromosomes.
authors.affiliation: Service endocrinologie-diabétologie, hôpital La Rabta, Tunis, Tunisie. fatma.harzallah@rns.tn
authors.forename: F
authors.initials: F
authors.lastname: Harzallah
authors.forename: R
authors.initials: R
authors.lastname: Waghlani
authors.forename: A
authors.initials: A
authors.lastname: Amouri
mesh_terms: D000052:Acanthosis Nigricans / Q000235:genetics; D000293:Adolescent; D002872:Chromosome Deletion; D041321:Chromosomes, Human, X / Q000235:genetics*; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D005836:Genitalia, Female / Q000002:abnormalities; D018149:Glucose Intolerance / Q000235:genetics; D006801:Humans; D006946:Hyperinsulinism / Q000235:genetics; D056128:Obesity, Abdominal / Q000235:genetics; D016649:Primary Ovarian Insufficiency / Q000188:drug therapy / Q000235:genetics*; D012729:Sex Chromosome Aberrations
chemical_list: D005640:Follicle Stimulating Hormone