Report and review of described associations of Mayer‐Rokitansky‐Küster‐Hauser syndrome and Silver–Russell syndrome |
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| Authors: | Mary B Abraham Karen Carpenter Gareth S Baynam Deborah JG Mackay Glynis Price Catherine S Choong |
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| Institution: | 1. Department of Endocrinology and Diabetes, Princess Margaret Hospital for Children, Perth, Western Australia, Australia;2. Department of Diagnostic Genomics, PathWest, QEII Medical Centre, Perth, Western Australia, Australia;3. School of Paediatrics and Child Health, The University of Western Australia, Perth, Western Australia, Australia;4. Institute for Immunology and Infectious Diseases, Murdoch University, Perth, Western Australia, Australia;5. Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Western Australia, Australia;6. Faculty of Medicine, University of Southampton, Southampton, United Kingdom |
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| Abstract: | Silver–Russell syndrome (SRS) and Mayer‐Rokitansky‐Küster‐Hauser (MRKH) syndrome are described in isolation. However, their co‐occurrence has only been rarely reported. Here, we present a case report of an adolescent with SRS who was diagnosed with MRKH during the evaluation of primary amenorrhoea. Multiplex ligation‐dependent probe amplification analysis showed a normal methylation pattern and normal dosage at 11p15.5. A PubMed search for all peer‐reviewed publications (original articles and reviews) using the key words Silver–Russell syndrome, Mayer‐Rokitansky‐Küster‐Hauser syndrome, genetics, hypomethylation and reproductive anomalies identified three cases of SRS with MRKH, two of which were associated with significant hypomethylation of the H19 imprinting control region of the 11p15.5 locus. This report highlights the association between SRS and MRKH. The absence of hypomethylation and normal dosage at 11p15.5 suggests these two rare entities share alternative aetiopathogenic mechanisms. |
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| Keywords: | genetics hypomethylation Mayer‐Rokitansky‐Kü ster‐Hauser syndrome reproductive anomalies Silver‐Russell syndrome |
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