Severe Resistant Hypomagnesemia as the First Clinical Presentation of 17q12 Microdeletion Syndrome

17q12 Microdeletion Syndrome as a Rare Cause of Elevated Liver Enzymes: Case Report and Literature Review

“…Magnesium impairment may occur in patients with 17q12 deletion syndrome and can be an atypical leading clue in the diagnosis of this syndrome. Chen et al [5] and Perovsic et al [4], determined that refractory hypomagnesemia is an important atypical predictor for 17q12 syndrome. Cheng et al [5] reported a case of a 21-year-old female who was misdiagnosed initially with type 2 diabetes mellitus at age of 20 and refractory hypomagnesemia was the earliest clue for her diagnosis with MODY5 in the absence of well-known features of 17q12 syndrome [5], whereas Perosvic et al [4] identified a case of a male patient who presented with ureteropelvic junction obstruction, chronic hydronephrosis, mild cognitive impairment, marfanoid features, and refractory hypomagnesemia.…”

“…The diagnosis of our patient was confirmed by genetic testing. Genetic studying is the gold standard test for the diagnosis of 17q12 deletion syndrome [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17]. It is the most accurate study to diagnose patients with renal anomalies.…”

“…17q12 deletion syndrome is a rare autosomal dominant inherited condition affecting the long arm of chromosome 17 [1][2][3][4]. Most cases result from de novo deletion, as it can occur in patients with no family history of this disorder [2] and 17q12 deletion syndrome can include multiple gene mutations [2].…”