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Prevalence of chromosomal abnormalities in S ri L ankan women with primary amenorrhea
Author(s) -
Samarakoon Lasitha,
Siriseirmala D.,
Wettasinghe Kalum T.,
Kariyawasam Kariyawasam Warnakulathanthrige Jayani C.,
Jayasekara Rohan W.,
Dissanayake Vajira H. W.
Publication year - 2013
Publication title -
journal of obstetrics and gynaecology research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.597
H-Index - 50
eISSN - 1447-0756
pISSN - 1341-8076
DOI - 10.1111/j.1447-0756.2012.02063.x
Subject(s) - short stature , turner syndrome , medicine , karyotype , amenorrhea , gynecology , chromosomal translocation , testis determining factor , etiology , x chromosome , primary amenorrhea , chromosome , pediatrics , genetics , y chromosome , biology , gene , pregnancy
Aim Chromosomal abnormalities are implicated in the etiology of primary amenorrhea. The underlying chromosomal aberrations are varied and regional differences have been reported. The objective of this study is to describe the prevalence of various types of chromosomal abnormalities in S ri L ankan women with primary amenorrhea. Material and Methods Medical records of all patients diagnosed with primary amenorrhea referred for cytogenetic analysis to two genetic centers in S ri L anka from J anuary 2005 to D ecember 2011 were reviewed. Chromosome culture and karyotyping was performed on peripheral blood samples obtained from each patient. Data were analyzed using standard descriptive statistics. Results Altogether 338 patients with primary amenorrhea were karyotyped and mean age at testing was 20.5 years. Numerical and structural chromosomal abnormalities were noted in 115 (34.0%) patients which included 45, X T urner syndrome (10.7%), T urner syndrome variants (13.9%), XY females (6.5%), 45, X /46, XY (0.9%), 46, XX /46, XY (0.6%), 47, XXX (0.3%), 47, XX ,+ mar (0.3%), 46, X ,i( X )(p10) (0.3%), 46, XX with SRY gene translocation on X chromosome (0.3%) and 46, XX ,inv(7)(p10;q11.2) (0.3%). Short stature, absent secondary sexual characteristics, neck webbing, cubitus valgus and broad chest with widely spaced nipples were commonly seen in patients with T urner syndrome and variant forms. Neck webbing and absent secondary sexual characteristics were significantly associated with classical T urner syndrome than variant forms. Conclusion A considerable proportion of women with primary amenorrhea had chromosomal abnormalities. Mean age at testing was late suggesting delay in referral for karyotyping. Early referral for cytogenetic evaluation is recommended for the identification of underlying chromosomal aberrations in women with primary amenorrhea.