Premature ovarian failure due to tetrasomy X in an adolescent girl.
Tetrasomy X associated with premature ovarian failure has been described in a few patients, and the parental origin of the extra X chromosomes has not been investigated so far in this group. A 15-year-old girl with mental retardation and minor physical anomalies showed secondary amenorrhea, high gonadotropin levels, and osteoporosis. Molecular analysis of the fibroblast cells revealed pure 48,XXXX constitution despite 48,XXXX/47,XXX mosaicism in peripheral blood. Analysis of the polymorphic markers (X22, DXYS218, DXYS267, HPRT) on the X chromosome by the quantitative fluorescent polymerase chain reaction (QF-PCR) method demonstrated that the extra X chromosomes were maternal in origin.


CONCLUSIONS
Patients with tetrasomy X syndrome should be screened for ovarian insufficiency during early adolescence because hormone replacement therapy may be required for prevention of osteoporosis. In order to understand a potential impact of the parental origin of the extra X chromosomes on ovarian development and function, further studies are needed.
Division of Pediatric Endocrinology, Department of Pediatrics, Ondokuz Mayis University, Kurupelit, Samsun, 55139, Turkey, cengizkara68@yahoo.com.
Cengiz
C
Kara
Ala
A
Üstyol
Ayşegül
A
Yılmaz
Engin
E
Altundağ
Gönül
G
Oğur
D000293:Adolescent; D041321:Chromosomes, Human, X / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D005260:Female; D020249:Hormone Replacement Therapy; D006801:Humans; D008607:Intellectual Disability / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D059785:Karyotype; D016133:Polymerase Chain Reaction; D016649:Primary Ovarian Insufficiency / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy; D012729:Sex Chromosome Aberrations