The Turkish Journal of Pediatrics 2021 , Vol 63 , Num 1
A rare intrauterine onset growth retardation syndrome caused by mosaic 19p13.3 microduplication: evaluation of GH/IGF- 1 axis and GH therapy response
Emre Özer 1 ,Birsen Karaman 2 ,Nilay Güneş 1 ,Olcay Evliyaoğlu 3 ,Beyhan Tüysüz 1
1 Divisions of Pediatric Genetics, İstanbul University Cerrahpasa Faculty of Medicine, İstanbul, Turkey
2 Division of Medical Genetics, İstanbul University Faculty of Medicine, İstanbul, Turkey
3 Divisions of Pediatric Endocrinology, Department of Pediatrics, İstanbul University Cerrahpasa Faculty of Medicine, İstanbul, Turkey
DOI : 10.24953/turkjped.2021.01.022 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. Keywords : 19p13.3 microduplication, intrauterine growth retardation, microcephaly, PIAS4, growth hormone

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