title: Primary amenorrhoea in a triple X female.
abstract: The incidence of trisomy X in the newborn population is estimated to be 1 in 1,000 liveborn females. Most of them have normal physical appearance and puberty. Therefore, the reported number of triple X females in the literature is low. We herein report one patient with triple X chromosomes, primary amenorrhoea and normal intelligence. Steroid hormonal levels, clinical and ultrasound findings were suggestive of ovarian failure/gonadal dysgenesis. This case emphasizes the need for chromosomal analysis in women presenting with premature ovarian failure leading to primary or secondary amenorrhoea.
authors.affiliation: Department of Anatomy, All India Institute of Medical Sciences, Ansari Nagar, New Delhi.
authors.forename: M
authors.initials: M
authors.lastname: Itu
authors.forename: T
authors.initials: T
authors.lastname: Neelam
authors.forename: A C
authors.initials: AC
authors.lastname: Ammini
authors.forename: K
authors.initials: K
authors.lastname: Kucheria
mesh_terms: D000328:Adult; D000568:Amenorrhea / Q000235:genetics*; D002871:Chromosome Banding; D005260:Female; D006059:Gonadal Dysgenesis / Q000235:genetics*; D006801:Humans; D007360:Intelligence; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014314:Trisomy; D014960:X Chromosome