Comprehensive evaluation of irisin levels in fetomaternal circulation of pregnant women with obesity or gestational diabetes mellitus.

AIM: To evaluate maternal and cord blood irisin levels in pregnant women with gestational diabetes mellitus (GDM) and in obese pregnant women without GDM. METHODS: The study included 109 patients, with 34 patients in the GDM group, 40 in the obese non-GDM group, and 35 in the control group. Maternal serum irisin levels at the time of delivery were measured by an enzyme-linked immunosorbent assay kit. The correlation of serum irisin levels with metabolic parameters and anthropometric measurements was analyzed. RESULTS: There were significant differences between the study groups in terms of cord arterial, cord venous, and maternal serum irisin levels (P < 0.001, P < 0.01, P < 0.001, respectively). Cord arterial, cord venous, and maternal serum irisin levels were higher in the obese group compared to the control (P < 0.01, P < 0.01, P < 0.01, respectively) and the GDM group (P < 0.001, P < 0.001, P < 0.001, respectively). CONCLUSION: Elevation in irisin levels of women who have pregnancies complicated with obesity may be explained as part of the compensation mechanism against disturbed metabolic functions. Pregnant individuals with GDM have lower serum irisin levels in comparison to healthy pregnant women. In this regard, it is possible that the measurement of serum irisin levels may be utilized in the future for prediction, prevention, and treatment of GDM.

A case of campomelic dysplasia in whom a new mutation was found in the SOX9 gene.

Campomelic dysplasia (CD, OMIM #114290) is a rare autosomal dominant disease characterized with bending and shortness in the long bones of the lower extremities, typical facial features, hypoplastic scapula, costa defect, narrow thorax and pes equinovarus. Campomelic dysplasia occurs with heterozygous mutations in the SOX9 gene in the 17q24 chromosome. The main findings of our four-day old patient included typical facial features, risomelic extremity shortness, angular bending in the long bones of bilateral lower extremities and pes equinovarus. On direct graphies, costa defect and scapula hypoplasia were noted. We showed a missense mutation (c.473C>T [p.A158V]) in the SOX9 gene which had not been reported before in our patient who had the typical clinical findings of CD. The family of the patient was informed about potential future pathologies of this disease and received genetic counseling.