AI Article Synopsis
- Turner's syndrome is a chromosomal disorder characterized by the absence of one X chromosome (45 X0), affecting about 1 in 2500 live births.
- While primary amenorrhea is common in Turner’s syndrome due to streak ovaries, cases associated with mullerian agenesis are exceptionally rare.
- This report discusses a unique case of an adolescent girl who presented with primary amenorrhea and was diagnosed with both Turner’s syndrome and mullerian agenesis.
Article Abstract
Turner's syndrome is a chromosomal disorder with 45 X0 due to absence of a set of gene from the short arm of X chromosome. The incidence of Turner's syndrome is 1 in 2500 live births. Primary amenorrhea is well known in Turner's syndrome, the reason being streak ovaries; but mullerian agenesis as a cause of primary amenorrhea in Turner's syndrome is a very rare entity. The incidence of Turner's syndrome associated with mullerian agenesis is extremely rare as there is only a hand full of cases reported in literature. We report a rare case of adolescent female who presented with primary amenorrhea and found to have Turner's syndrome with mullerian agenesis.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5376844 | PMC |
| http://dx.doi.org/10.7860/JCDR/2017/23305.9157 | DOI Listing |
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