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CLINICAL IMAGES
Year : 2016  |  Volume : 143  |  Issue : 3  |  Page : 378-379

Turner like dysmorphia as presenting feature of Type-II Mayer-Rokitansky-Kuster-Hauser syndrome


1 Department of Endocrinology, Post Graduate Institute of Medical Education & Research (PGIMER) & Dr Ram Manohar Lohia (RML) Hospital, New Delhi 110 001, India
2 Department of Radiology, Post Graduate Institute of Medical Education & Research (PGIMER) & Dr Ram Manohar Lohia (RML) Hospital, New Delhi 110 001, India

Date of Web Publication19-May-2016

Correspondence Address:
Deep Dutta
Department of Endocrinology, Post Graduate Institute of Medical Education & Research (PGIMER) & Dr Ram Manohar Lohia (RML) Hospital, New Delhi 110 001
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0971-5916.182635

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How to cite this article:
Dutta D, Taneja A. Turner like dysmorphia as presenting feature of Type-II Mayer-Rokitansky-Kuster-Hauser syndrome. Indian J Med Res 2016;143:378-9

How to cite this URL:
Dutta D, Taneja A. Turner like dysmorphia as presenting feature of Type-II Mayer-Rokitansky-Kuster-Hauser syndrome. Indian J Med Res [serial online] 2016 [cited 2019 Jul 18];143:378-9. Available from: http://www.ijmr.org.in/text.asp?2016/143/3/378/182635

A 19 yr old girl with Turner-like dysmorphia [Figure A] (height: 131 cm; standard deviation: - 5.2 cm) presented to the Endocrinology clinic, Dr Ram Manohar Lohia Hospital, New Delhi, India, in November 2014 with complaints of primary amenorrhoea. Examination was significant for short neck, restriction of neck movements, scoliosis [Figure B, C], well developed breasts (B4), pubic hair (P3), axillary hair, normal estrogenized vulva, labia, clitoris with a blind vagina measuring 6 cm. Karyotype was normal (46XX) with normal hormones (luteinizing hormone: 2.44 mIU/ml; follicle stimulating hormone: 3 mIU/ml; estradiol: 68 pg/ml), ruling out Turner syndrome (TS). Short neck was due to type-II Klippel Feil (KF) anomaly [Figure B]. Echocardiography showed small ostium secundum atrial septal defect (ASD). Presence of vertebral, cardiac and renal anomalies (right renal agenesis and malrotation of left kidney) [Figure D] along with Mullerian agenesis [Figure E] led to diagnosis of Type-II Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH2). Mullerian agenesis (type I and II), which includes MRKH2 is the second most common cause of primary amenorrhoea (after TS). She was currently sexually inactive. Potential need for vaginal dilatational procedures/vaginoplasty in case of dyspareunia later in life was discussed. Scope for in vitro fertilization and surrogate pregnancy were considered as long-term fertility options due to absence of inner genital tract. In view of lack of neurodeficits or neck instability, surgical interventions for KF anomaly were deferred [Figure 1].
Figure 1:

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