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Case Reports
. 2013 Oct;6(4):277-9.
doi: 10.4103/0974-1208.126313.

A rare case of Turner's syndrome presenting with Mullerian agenesis

Suresh Vaddadi  1 , Ramana S V Murthy  1 , C H Rahul  1 , Vinod L Kumar  1
Affiliations
Case Reports

A rare case of Turner's syndrome presenting with Mullerian agenesis

Suresh Vaddadi et al. J Hum Reprod Sci. 2013 Oct.

Abstract

Turner's syndrome also called as Ullrich Turner's syndrome, is a disease of unclear pathogenesis characterized by complete or partial absence of one sex chromosome, with or without cell line mosaicism in a phenotypic female with short stature. Various anomalies result in a constellation of features, of which the most disturbing is primary amenorrhea due to gonadal dysgenesis. Hormone therapy in these patients can often result in successful menstruation, and scope for subsequent pregnancy because of anatomically normal uterus and vagina. Coexisting Mullerian agenesis in these patients can jeopardize the chances of future pregnancy as they have associated structural abnormalities of the uterus and vagina. We report a rare case of middle-aged female with Turner's syndrome and Mullerian agenesis having absent secondary sexual characters and missing uterus with incompletely formed vagina.

Keywords: Mullerian agenesis; Turner's syndrome; mosaicism.

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Conflict of interest statement

Conflict of Interest: None declared.

Figures

Figure 1
Figure 1
Comparison of height with her normal sibling
Figure 2
Figure 2
Turner's syndrome patient with short stature, cubitus valgus, and absence of secondary sexual characters
Figure 3
Figure 3
Karyotype of the patient showing single X chromosome (45, XO), that is, monosomy
See this image and copyright information in PMC

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