Absent endometrium due to balanced translocation [t(4;20)] presenting as primary amenorrhea

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...

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Detalles Bibliográficos
Autores principales: Nigam, Aruna, Ahmad, Ayesha, Batra, Swaraj
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4018801/
https://www.ncbi.nlm.nih.gov/pubmed/24829534
http://dx.doi.org/10.4103/0974-1208.130867
Descripción
Sumario: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.

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