A rare intrauterine onset growth retardation syndrome caused by mosaic 19p13.3 microduplication: evaluation of GH/IGF-1 axis and GH therapy response
TURKISH JOURNAL OF PEDIATRICS, sa.1, ss.174-180, 2021 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Basım Tarihi: 2021
- Doi Numarası: 10.24953/turkjped.2021.01.022
- Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database
- Sayfa Sayıları: ss.174-180
- İstanbul Üniversitesi-Cerrahpaşa Adresli: Evet
Özet
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.