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 gon...

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Bibliographic Details
Published in:European journal of pediatrics 2014-12, Vol.173 (12), p.1627-1630
Main Authors: Kara, Cengiz, Üstyol, Ala, Yılmaz, Ayşegül, Altundağ, Engin, Oğur, Gönül
Format: Article
Language:English
Subjects:
Adolescent
Amenorrhea
Case Report
Case reports
Chromosomes, Human, X - genetics
Craniofacial Abnormalities - complications
Craniofacial Abnormalities - diagnosis
Craniofacial Abnormalities - genetics
Endocrinology
Female
Fibroblasts
Hormone Replacement Therapy
Humans
Intellectual disabilities
Intellectual Disability - complications
Intellectual Disability - diagnosis
Intellectual Disability - genetics
Karyotype
Medicine
Medicine & Public Health
Menstruation
Osteoporosis
Ovaries
Patients
Pediatrics
Polymerase Chain Reaction
Primary Ovarian Insufficiency - diagnosis
Primary Ovarian Insufficiency - etiology
Primary Ovarian Insufficiency - therapy
Sex Chromosome Aberrations
Standard scores
Thyroid gland
Ultrasonic imaging
X chromosomes
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Summary: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. Conclusion : 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.
ISSN:0340-6199
1432-1076
DOI:10.1007/s00431-013-2209-y