ESPE Abstracts

11 Beta Hydroxylase Deficiency and Gittelman Syndrome are two rare autosomal recessive diseases. Our patient, whose brother had 11 beta Hydroxylase Deficiency, was diagnosed at the antenatal period. We detected hypomagnesemia, hypokalemia, hypocalciuria and metabolic alkalosis at the age of 3 years and 8 months, after vomiting and diarrhea. In our patient, a homozygous mutation was detected in the SLC12A3 gene at the c.1049C>T (p. Ser350Leu) (rs7785585043) location. There is a relationship with Gittelman Syndrome in the literature, the clinical and laboratory findings of our patient, whom we followed up with the diagnosis of 11β-OHD deficiency, which did not coincide with this disease, became clear. Although serum and urine biochemical parameters and clinical findings are guiding in Gittelman Syndrome, genetic testing is important in cases with additional disease in which clinical and laboratory findings may be confused, as in our patient with 11 beta hydroxylase deficiency. The coexistence of these two rare diseases is presented for the first time in the literature.