A Devi1, P A Benn. 1. Department of Pediatrics, University of Connecticut Health Center, Farmington 06030-6140, USA.
Abstract
OBJECTIVE: To evaluate the significance of X-chromosome abnormalities identified in a series of women with premature ovarian failure (POF). STUDY DESIGN: Karyotypes were reviewed for all women referred to our cytogenetic laboratory over a five-year interval with the diagnosis of POF. Thirty women aged less than 40 with unexplained secondary amenorrhea and elevated follicle-stimulating hormone were included. RESULTS: Of the 30 patients, 26 had a normal karyotype and 4 showed the following X-chromosome abnormalities: 46,Xi(Xq), 45,X/46,XX mosaic, 46,X,der(X)t(X;Y)(q28;q12) mat and 46,X,t(X;5)(q22;q11.2) mat. In the two families with familial translocations, carrier females within each family showed considerable variability in age at onset of menopause. CONCLUSION: Both familial and nonfamilial X-chromosome abnormalities can be identified in women with POF. Cytogenetic studies should not be limited to those patients with very-early-onset POF.
OBJECTIVE: To evaluate the significance of X-chromosome abnormalities identified in a series of women with premature ovarian failure (POF). STUDY DESIGN: Karyotypes were reviewed for all women referred to our cytogenetic laboratory over a five-year interval with the diagnosis of POF. Thirty women aged less than 40 with unexplained secondary amenorrhea and elevated follicle-stimulating hormone were included. RESULTS: Of the 30 patients, 26 had a normal karyotype and 4 showed the following X-chromosome abnormalities: 46,Xi(Xq), 45,X/46,XX mosaic, 46,X,der(X)t(X;Y)(q28;q12) mat and 46,X,t(X;5)(q22;q11.2) mat. In the two families with familial translocations, carrier females within each family showed considerable variability in age at onset of menopause. CONCLUSION: Both familial and nonfamilial X-chromosome abnormalities can be identified in women with POF. Cytogenetic studies should not be limited to those patients with very-early-onset POF.
Authors: John B Harley; R Hal Scofield; Ke Liu; Biji T Kurien; Sarah L Zimmerman; Kenneth M Kaufman; Diana H Taft; Leah C Kottyan; Sara Lazaro; Carrie A Weaver; John A Ice; Adam J Adler; James Chodosh; Lida Radfar; Astrid Rasmussen; Donald U Stone; David M Lewis; Shibo Li; Kristi A Koelsch; Ann Igoe; Mitali Talsania; Jay Kumar; Jacen S Maier-Moore; Valerie M Harris; Rajaram Gopalakrishnan; Roland Jonsson; James A Lessard; Xianglan Lu; Jacques-Eric Gottenberg; Juan-Manuel Anaya; Deborah S Cunninghame-Graham; Andrew J W Huang; Michael T Brennan; Pamela Hughes; Gabor G Illei; Corinne Miceli-Richard; Edward C Keystone; Vivian P Bykerk; Gideon Hirschfield; Gang Xie; Wan-Fai Ng; Gunnel Nordmark; Per Eriksson; Roald Omdal; Nelson L Rhodus; Maureen Rischmueller; Michael Rohrer; Barbara M Segal; Timothy J Vyse; Marie Wahren-Herlenius; Torsten Witte; Bernardo Pons-Estel; Marta E Alarcon-Riquelme; Joel M Guthridge; Judith A James; Christopher J Lessard; Jennifer A Kelly; Susan D Thompson; Patrick M Gaffney; Courtney G Montgomery; Jeffrey C Edberg; Robert P Kimberly; Graciela S Alarcón; Carl L Langefeld; Gary S Gilkeson; Diane L Kamen; Betty P Tsao; W Joseph McCune; Jane E Salmon; Joan T Merrill; Michael H Weisman; Daniel J Wallace; Tammy O Utset; Erwin P Bottinger; Christopher I Amos; Katherine A Siminovitch; Xavier Mariette; Kathy L Sivils Journal: Arthritis Rheumatol Date: 2016-05 Impact factor: 10.995