A boy presenting with familial short stature--diagnosis Gitelman syndrome.
Patients with Gitelman syndrome are usually diagnosed by chance or present with muscular weakness, constipation, or tetanies due to hypokalemia and hypomagnesemia. We present a short statured boy with a clear history of familial short stature, normal growth and a final height prognosis within the target height range. However, routine laboratory studies led to the diagnosis of Gitelman syndrome. If a baseline laboratory analysis had not been performed, this diagnosis would have been missed.
Schoof
E
E
Division of Pediatric Endocrinology, Hospital for Children and Adolescents, University of Erlangen-Nuremberg, Germany.
Marx
M
M
Doerr
H G
HG
D001827:Body Height / Q000235:genetics*; D002648:Child; D002658:Developmental Disabilities / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D013577:Syndrome