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Preimplantation Genetic Testing of Multiple Endocrine Neoplasia Type 2A
Background: When discussing matters of reproduction, the 2015 revised guidelines for the management of medullary thyroid carcinoma recommend that patients diagnosed with multiple endocrine neoplasia type 2A (MEN 2A) are informed about the option of Preimplantation Genetic Testing for Monogenic Disor...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7592389/ https://www.ncbi.nlm.nih.gov/pubmed/33178136 http://dx.doi.org/10.3389/fendo.2020.572151 |
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author | Würgler Hansen, Anders Sønderberg Roos, Laura Kirstine Løssl, Kristine Godballe, Christian Mathiesen, Jes Sloth |
author_facet | Würgler Hansen, Anders Sønderberg Roos, Laura Kirstine Løssl, Kristine Godballe, Christian Mathiesen, Jes Sloth |
author_sort | Würgler Hansen, Anders |
collection | PubMed |
description | Background: When discussing matters of reproduction, the 2015 revised guidelines for the management of medullary thyroid carcinoma recommend that patients diagnosed with multiple endocrine neoplasia type 2A (MEN 2A) are informed about the option of Preimplantation Genetic Testing for Monogenic Disorders (PGT-M). In addition, patients seem to have a genuine interest in reproductive options. However, there are just two reports worldwide of this technology being used for patients with MEN 2A. We here present, in a Danish couple where the man has MEN 2A, the first European family with children born after PGT-M. Objective: To report the results of PGT-M in relation to multiple endocrine neoplasia type 2A with the aim to increase awareness among physicians treating this and other genetic disorders. Methods: A Danish couple was referred to the PGT Center at Copenhagen University Hospital Rigshospitalet and opted for PGT-M after counseling by a clinical geneticist and a fertility doctor. The embryos were diagnosed using microsatellite polymorphic marker close to RET. Results: The couple had two healthy children born in 2017 and 2019 as a result of a total of three ICSI treatments including controlled ovarian stimulation, oocyte retrieval and PGT-M, and a total of six blastocyst transfers. Conclusion: A session with a clinical geneticist covering all reproductive options for patients in early adult life is a relevant part of the clinical management of patients with MEN 2A, and other patients with hereditary cancer predisposition syndromes. |
format | Online Article Text |
id | pubmed-7592389 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-75923892020-11-10 Preimplantation Genetic Testing of Multiple Endocrine Neoplasia Type 2A Würgler Hansen, Anders Sønderberg Roos, Laura Kirstine Løssl, Kristine Godballe, Christian Mathiesen, Jes Sloth Front Endocrinol (Lausanne) Endocrinology Background: When discussing matters of reproduction, the 2015 revised guidelines for the management of medullary thyroid carcinoma recommend that patients diagnosed with multiple endocrine neoplasia type 2A (MEN 2A) are informed about the option of Preimplantation Genetic Testing for Monogenic Disorders (PGT-M). In addition, patients seem to have a genuine interest in reproductive options. However, there are just two reports worldwide of this technology being used for patients with MEN 2A. We here present, in a Danish couple where the man has MEN 2A, the first European family with children born after PGT-M. Objective: To report the results of PGT-M in relation to multiple endocrine neoplasia type 2A with the aim to increase awareness among physicians treating this and other genetic disorders. Methods: A Danish couple was referred to the PGT Center at Copenhagen University Hospital Rigshospitalet and opted for PGT-M after counseling by a clinical geneticist and a fertility doctor. The embryos were diagnosed using microsatellite polymorphic marker close to RET. Results: The couple had two healthy children born in 2017 and 2019 as a result of a total of three ICSI treatments including controlled ovarian stimulation, oocyte retrieval and PGT-M, and a total of six blastocyst transfers. Conclusion: A session with a clinical geneticist covering all reproductive options for patients in early adult life is a relevant part of the clinical management of patients with MEN 2A, and other patients with hereditary cancer predisposition syndromes. Frontiers Media S.A. 2020-10-14 /pmc/articles/PMC7592389/ /pubmed/33178136 http://dx.doi.org/10.3389/fendo.2020.572151 Text en Copyright © 2020 Würgler Hansen, Sønderberg Roos, Løssl, Godballe and Mathiesen. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Endocrinology Würgler Hansen, Anders Sønderberg Roos, Laura Kirstine Løssl, Kristine Godballe, Christian Mathiesen, Jes Sloth Preimplantation Genetic Testing of Multiple Endocrine Neoplasia Type 2A |
title | Preimplantation Genetic Testing of Multiple Endocrine Neoplasia Type 2A |
title_full | Preimplantation Genetic Testing of Multiple Endocrine Neoplasia Type 2A |
title_fullStr | Preimplantation Genetic Testing of Multiple Endocrine Neoplasia Type 2A |
title_full_unstemmed | Preimplantation Genetic Testing of Multiple Endocrine Neoplasia Type 2A |
title_short | Preimplantation Genetic Testing of Multiple Endocrine Neoplasia Type 2A |
title_sort | preimplantation genetic testing of multiple endocrine neoplasia type 2a |
topic | Endocrinology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7592389/ https://www.ncbi.nlm.nih.gov/pubmed/33178136 http://dx.doi.org/10.3389/fendo.2020.572151 |
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