BackgroundSHORT syndrome is a rare genetic congenital defects condition. The frequency of the disease still remains unknown.Case presentationWe report the two-year-four-month old female with SHORT syndrome who present growth retardation and dysmorphic features (triangular-shaped face, prominent forehead, ocular depression, lipodystrophy at the lumbar region and around elbows), consistent with the phenotype described for this syndrome.The molecular analysis showed the presence of heterozygous variant c.1956dupT (p.Lys653*) in exon 15 of PIK3R1.ConclusionsThe frequency of the disease still remains unknown; solely several dozen cases have been described worldwide.
1) Described by our case is interesting because of the rarity of coexistence Graves' disease with growth hormone deficiency. 2) GH deficiency often accompanies hypothyroidism. Note, however, that hyperthyroidism may be associated with short stature in the course of growth hormone deficiency. 3) The coexistence of endocrine disorders in childhood is not uncommon, so the diagnosis of one disease entity should not exclude further observation for the presence of other endocrine disorders.
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