Introduction: Distal chromosome 15 duplication is a very rare genetic disease, first described in 1974 by Fujimoto et al. The symptoms and physical findings include prenatal and/or postnatal growth retardation, mental retardation, poor speaking abilities, asymmetrical dysmorphic facial features, malformations of the fingers and/or toes and sometimes heart conditions.
Case report: We report a case of a 2 years 5 months old girl, born with SGA (uterine growth delay with arterial pathology at 13 weeks of gestation, emergency caesarean section at 33w due to severe oligohydramniosweight(W):1200 g, −2.8 S.D., height (H): 38 cm, −3.4 S.D., with developmental delay (didnt speak until 2 years of age, walked at 2 years and 1 month, limited understanding partially due to transmission deafness). She is the second child in a brotherhood of 2 (one brother, 4 years old, healthy), from apparently healthy nonconsanguineous parents (father H: 174 cm, mother H: 160 cm) and with a parental aunt diagnosed with pituitary dwarfism (H: 109.5 cm −9.5 S.D., W: 23 kg −5.4 S.D., infanto senescent features, IGF1<25 ng/ml) and Turner syndrome (mosaicism) for which adult hGH replacement was proposed. Based on the childs development delay and clinical features (short stature, big forehead, small triangular facies, micrognathia, anterior fontanelle open, repetitive hypoglycaemic episodes) she was first diagnosed with Silver Russell syndrome, ruled out by molecular investigations and then on an extensive research she was later diagnosed with de novo interstitial chromosome 15 duplication q21.2 to q24.1 (not present in neither of her parents-FISH), which explains her phenotype. Evaluation at the Endocrinology Department of St. Spiridon Hospital Iasi revealed H: 74 cm −5.38 S.D., W: 7000 g, delayed bone age ~1 year 6 months, predicted size 160.5 cm. Given the SGA, bone age delay, genetic diagnosis and the small predicted height, treatment with hGH was assessed which ameliorated the growth rate (0.66 cm/month).
Conclusion: We present an unique case of distal 15q duplication mutations on this region are inducing extremely different phenotypes, depending on the precise location and the length of the mutation. In our case, treatment with hGH ameliorated growth velocity and prevented other hypoglycaemic episodes.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology