A rare intrauterine onset growth retardation syndrome caused by mosaic 19p13.3 microduplication: evaluation of GH/IGF- 1 axis and GH therapy response
Background. 19p13.3 microduplication syndrome is a newly defined intrauterine onset growth retardation syndrome characterized by microcephaly, moderate intellectual disability, speech delay, and mild dysmorphic features. The PIAS4 gene located in this region plays a crucial role as a transcri...
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Hacettepe University Institute of Child Health
2021-02-01
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| Series: | The Turkish Journal of Pediatrics |
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| Online Access: | https://turkjpediatr.org/article/view/285 |
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| author | Emre Özer Birsen Karaman Nilay Güneş Olcay Evliyaoğlu Beyhan Tüysüz |
| author_facet | Emre Özer Birsen Karaman Nilay Güneş Olcay Evliyaoğlu Beyhan Tüysüz |
| author_sort | Emre Özer |
| collection | DOAJ |
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Background. 19p13.3 microduplication syndrome is a newly defined intrauterine onset growth retardation syndrome characterized by microcephaly, moderate intellectual disability, speech delay, and mild dysmorphic features. The PIAS4 gene located in this region plays a crucial role as a transcriptional co-regulator in various cellular pathways including STAT, p53/TP53 and growth hormone (GH) signaling and mutations in this gene are thought to be responsible for clinical features.
Case. We present a 10 year-old girl with intrauterine onset growth retardation, microcephaly, and mild facial dysmorphic features. Treatment with GH was started at 4 years and 9 months of age targeting the severe short stature (-3.65 standard deviation score, SDS) since she had significant IGF-1 response to exogenous GH. Microarray study demonstrated a 19p13.3 microduplication of 4.4 Mb. FISH analyses revealed mosaic extra signals (27.5% on blood lymphocytes, and 47% on buccal epithelium) of 19p13.3 region. At the age of 10, her height was at -2.37 SDS, and she had mild intellectual disability which has been described in 19p13.3 microduplication syndrome.
Conclusion. We present here a patient with typical findings of 19p13.3 microduplication syndrome and also with a prominent response to GH treatment, which has not been reported previously in this syndrome.
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| format | Article |
| id | doaj-art-66c3a360abe24a6c8c90b38bf0902475 |
| institution | DOAJ |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2021-02-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-66c3a360abe24a6c8c90b38bf09024752025-08-20T03:16:22ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212021-02-0163110.24953/turkjped.2021.01.022A rare intrauterine onset growth retardation syndrome caused by mosaic 19p13.3 microduplication: evaluation of GH/IGF- 1 axis and GH therapy responseEmre Özer0Birsen Karaman1Nilay Güneş2Olcay Evliyaoğlu3Beyhan Tüysüz4Divisions of Pediatric Genetics, İstanbul University Cerrahpasa Faculty of Medicine, İstanbul, Turkey.Division of Medical Genetics, İstanbul University Faculty of Medicine, İstanbul, Turkey.Divisions of Pediatric Genetics, İstanbul University Cerrahpasa Faculty of Medicine, İstanbul, Turkey.Divisions of Pediatric Endocrinology, Department of Pediatrics, İstanbul University Cerrahpasa Faculty of Medicine, İstanbul, Turkey.Divisions of Pediatric Genetics, İstanbul University Cerrahpasa Faculty of Medicine, İstanbul, Turkey. Background. 19p13.3 microduplication syndrome is a newly defined intrauterine onset growth retardation syndrome characterized by microcephaly, moderate intellectual disability, speech delay, and mild dysmorphic features. The PIAS4 gene located in this region plays a crucial role as a transcriptional co-regulator in various cellular pathways including STAT, p53/TP53 and growth hormone (GH) signaling and mutations in this gene are thought to be responsible for clinical features. Case. We present a 10 year-old girl with intrauterine onset growth retardation, microcephaly, and mild facial dysmorphic features. Treatment with GH was started at 4 years and 9 months of age targeting the severe short stature (-3.65 standard deviation score, SDS) since she had significant IGF-1 response to exogenous GH. Microarray study demonstrated a 19p13.3 microduplication of 4.4 Mb. FISH analyses revealed mosaic extra signals (27.5% on blood lymphocytes, and 47% on buccal epithelium) of 19p13.3 region. At the age of 10, her height was at -2.37 SDS, and she had mild intellectual disability which has been described in 19p13.3 microduplication syndrome. Conclusion. We present here a patient with typical findings of 19p13.3 microduplication syndrome and also with a prominent response to GH treatment, which has not been reported previously in this syndrome. https://turkjpediatr.org/article/view/28519p13.3 microduplicationPIAS4growth hormoneintrauterine growth retardationmicrocephaly |
| spellingShingle | Emre Özer Birsen Karaman Nilay Güneş Olcay Evliyaoğlu Beyhan Tüysüz A rare intrauterine onset growth retardation syndrome caused by mosaic 19p13.3 microduplication: evaluation of GH/IGF- 1 axis and GH therapy response The Turkish Journal of Pediatrics 19p13.3 microduplication PIAS4 growth hormone intrauterine growth retardation microcephaly |
| title | A rare intrauterine onset growth retardation syndrome caused by mosaic 19p13.3 microduplication: evaluation of GH/IGF- 1 axis and GH therapy response |
| title_full | A rare intrauterine onset growth retardation syndrome caused by mosaic 19p13.3 microduplication: evaluation of GH/IGF- 1 axis and GH therapy response |
| title_fullStr | A rare intrauterine onset growth retardation syndrome caused by mosaic 19p13.3 microduplication: evaluation of GH/IGF- 1 axis and GH therapy response |
| title_full_unstemmed | A rare intrauterine onset growth retardation syndrome caused by mosaic 19p13.3 microduplication: evaluation of GH/IGF- 1 axis and GH therapy response |
| title_short | A rare intrauterine onset growth retardation syndrome caused by mosaic 19p13.3 microduplication: evaluation of GH/IGF- 1 axis and GH therapy response |
| title_sort | rare intrauterine onset growth retardation syndrome caused by mosaic 19p13 3 microduplication evaluation of gh igf 1 axis and gh therapy response |
| topic | 19p13.3 microduplication PIAS4 growth hormone intrauterine growth retardation microcephaly |
| url | https://turkjpediatr.org/article/view/285 |
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