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Report and review of described associations of Mayer-Rokitansky-Küster-Hauser syndrome and Silver-Russell syndrome

Report and review of described associations of Mayer-Rokitansky-Küster-Hauser syndrome and Silver-Russell syndrome
Report and review of described associations of Mayer-Rokitansky-Küster-Hauser syndrome and Silver-Russell syndrome
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
genetics, hypomethylation, Mayer-Rokitansky-Küster-Hauser syndrome, reproductive anomalies, Silver-Russell syndrome
1034-4810
555-560
Abraham, Mary B.
417e2534-ced9-44dd-8508-e5afd122cf6f
Carpenter, Karen
bd5493bc-bb84-4f1c-868d-7cbfd0473219
Baynam, Gareth S.
0077fd8b-15f6-4a43-9154-526ecc034b11
Mackay, Deborah J.G.
588a653e-9785-4a00-be71-4e547850ee4a
Price, Glynis
975f02db-a812-4fb2-841e-5dbb23dc8a7d
Choong, Catherine S.
4147b7a9-85fe-4d90-b346-d9de718052a9
Abraham, Mary B.
417e2534-ced9-44dd-8508-e5afd122cf6f
Carpenter, Karen
bd5493bc-bb84-4f1c-868d-7cbfd0473219
Baynam, Gareth S.
0077fd8b-15f6-4a43-9154-526ecc034b11
Mackay, Deborah J.G.
588a653e-9785-4a00-be71-4e547850ee4a
Price, Glynis
975f02db-a812-4fb2-841e-5dbb23dc8a7d
Choong, Catherine S.
4147b7a9-85fe-4d90-b346-d9de718052a9

Abraham, Mary B., Carpenter, Karen, Baynam, Gareth S., Mackay, Deborah J.G., Price, Glynis and Choong, Catherine S. (2015) Report and review of described associations of Mayer-Rokitansky-Küster-Hauser syndrome and Silver-Russell syndrome. Journal of Paediatrics and Child Health, 51 (5), 555-560. (doi:10.1111/jpc.12778). (PMID:25418154 )

Record type: Article

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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More information

e-pub ahead of print date: 23 November 2014
Published date: May 2015
Keywords: genetics, hypomethylation, Mayer-Rokitansky-Küster-Hauser syndrome, reproductive anomalies, Silver-Russell syndrome
Organisations: Human Development & Health

Identifiers

Local EPrints ID: 372665
URI: https://eprints.soton.ac.uk/id/eprint/372665
ISSN: 1034-4810
PURE UUID: fc295cb9-eb0f-4de4-b5ec-e91aff99e50f
ORCID for Deborah J.G. Mackay: ORCID iD orcid.org/0000-0003-3088-4401

Catalogue record

Date deposited: 17 Dec 2014 10:48
Last modified: 19 Jul 2019 01:06

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