ACTA ENDOCRINOLOGICA (BUC)

Background. Several studies observed metabolic disorders in pregnancy as risk factors for birth defects, including orofacial clefts. Diabetes is associated with approx. 10% of the pregnancies, but in Romania, less than 5%. An obese and diabetic woman has 3 times more risk for an offspring with a craniofacial defect than healthy women suggesting that diabetes mellitus contributes to their pathogenesis with complex mechanisms. Case report. We present the case of a newborn 4 days old, male with neonatal hypoglycemia, cleft lip and proportionate (symmetric) macrosomia. His mother is a 35 years old Caucasian woman with no important personal risk factors and no known history of diabetes mellitus. The glucose tolerance test performed to the mother at about 10 weeks during pregnancy led to the diagnosis of gestational diabetes. Discussion. The gestational diabetes mellitus diagnosed since the 10th week of pregnancy, the hyperglycemia status during pregnancy and the fetal overgrowth (macrosomia at birth) indicate the possible factors that lead to the Orofacial cleft (OFC). Conclusion. With the increased prevalence of obesity, diabetes, and the evidence of association of these syndromes with OFCs, it is recommended that mothers planning to become pregnant to follow healthy habits, maintain healthy weight, and be screened for possible diabetes prior to conception and early in pregnancy.

Background. Type 0 glycogenosis is a genetic metabolic disorder characterized by the absence of glycogen synthesis of hepatic synthase and hence of liver glycogen stores in normal amounts. It is an extremely rare condition. Case study. This case is a 5-year and 11-monthold female child with asymptomatic severe hypoglycemia in the last two years. During the admission and afterwards, an extensive panel of paraclinical and imaging investigations was carried out to diagnose and document the case, which led to the specific genetic test. The result was positive for 2 heterozygous mutations in the GYS2 gene (hepatic glycogen synthase), the p.547C> T mutation was pathogenic (class 1) and c.465del, frameshift likely pathogenic (class 2). In order to integrate the clinical picture of patients with this condition and to establish potential correlations regarding the specific aspects with the general development and the phenotype, the oro-dental status was investigated. Conclusion. The investigations showed a positive correlation with literature data in several respects: low stature, hypoglycemia with hyperketonemia but normal plasma lactate, postprandial and contradictory hyperglycemia, delayed bone development, etc. Oro-buco-maxillary aspects showed a slight delay in the dental eruption. Dietary therapy and stricter dental care and additional prophylaxis are required.