ABSTRACT
The clinical data of a child with SHORT syndrome caused by PIK3R1 gene mutation in Children′s Hospital of Nanjing Medical University was retrospectively analyzed.The patient was a 11 years old and 5 months Chinese girl initially hospitalized due to polyuria, polyphagia and polydipsia in the past 2 months.Physical examination showed decreased subcutaneous fat on the face, a triangular-shaped face, ocular depression, a wide nose bridge, hypoplastic nasal alae, columnar depression in the low part of the nose, downturned lips, hyperpigmentation of the skin of the neck, axillae, cubital and popliteal fossae and groins (acanthosis nigricans). Besides, slight cubitus valgus and hyperextension were observed.Laboratory tests showed diabetes mellitus with insulin resistance.Whole exome sequencing identified a de novo heterozygous PIK3R1 mutation (c.1945C>T, p.Arg649Trp), SHORT syndrome is a rare autosomal dominant disorder, characterized by special facial appearance, lipodystrophy and insulin resistance.Molecular analysis of the PIK3R1 gene permits confirmation of the diagnosis.The patients with SHORT syndrome require multidisciplinary management, and early diagnosis can prevent complications and reduce the burden on the family.