Association of 20P11.2 Deletion With Growth Hormone Deficiency and Hypothyroidism

There are few reports describing proximal deletions of the short arm of chromosome 20 (20p), making it difficult to predict the likely consequences of this deletion. Previously, two reports have described a mosaic maternally inherited 20p deletion; the first case has described a proximal 20p11.2 deletion mainly associated with phenotypes such as panhypopituitarism and dysmorphic facial features. The second case has reported Alagille syndrome with a submicroscopic 20p deletion (including the JAG1 gene).Another report describing a de novo 20p11.22-p11.23 haploinsufficiency, have described a phenotype of autism, craniofacial dysmorphism, and Hirschsprung disease. Herein, we report the smallest reported de novo proximal 20p deletion in 9-years old boy with a phenotype including; growth hormone deficiency, hypothyroidism, craniofacial dysmorphism, ocular abnormalities, ectopic inguinal testes, polysplenia, gastrointestinal system anomalies and immune system impairment. The only other similar report to our patient involving the deletion of only Foxa2 gene showed phenotypes associated with biliary atresia, malrotation and interrupted inferior vena cava. Our patient provides further evidence expanding the spectrum of 20p11.2 deletion to include hypothyroidism and growth hormone deficiency.