Open AccessAbsent endometrium due to balanced translocation [t(4;20)] presenting as primary amenorrhea
Author(s) -
Aruigam,
Ayesha Ahmad,
Swaraj Batra
Publication year - 2014
Publication title -
journal of human reproductive sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.484
H-Index - 31
eISSN - 0974-1208
pISSN - 1998-4766
DOI - 10.4103/0974-1208.130867
Subject(s) - primary amenorrhea , amenorrhea , endometrium , menarche , chromosomal translocation , etiology , gynecology , incidence (geometry) , medicine , secondary sex characteristic , hormone , obstetrics , biology , pregnancy , genetics , physics , gene , optics
Primary amenorrhea is defined as the absence of menarche by 16-18 years of age in the presence of well-developed secondary sexual characters. An incidence of 1-3% has been reported in women of reproductive age group. The etiology varies with anatomical, genetic and hormonal factors implicated in the causation of primary amenorrhea. We present a case of absent endometrium due to balanced reciprocal translocation (RCPTR), 46 XX t (4;20)(q12;q13.1) as primary amenorrhea.