Variation of carbohydrate intake in diabetic children on carbohydrate counting.

AIMS: Carbohydrate counting (CC) is a technique for managing diabetes particularly based on the counting of carbohydrates. It allows diabetic patients to vary their amount of carbohydrates from one meal to another by adjusting their insulin dose. The primary objective was to determine the variation of carbohydrate intake (CI) in children on CC. METHOD: This was a prospective study conducted between 2014 and 2016. We collected the amount of carbohydrates eaten at each meal by 77 diabetic over a period of 28 days (i.e. 8068 data). We analyzed the number and percentage of significant CI variation rates from one day to another, both for the whole day and for each meal. The CI variation rate was deemed significant if it was greater than or equal to 30%. RESULTS: The percentage of significant CI variation rates was 30% at the daily level, 34% for breakfast, 44% for lunch and dinner, and 53% for snack. The percentage of significant variation rates varied according to age, treatment and occurrence of events. CONCLUSION: Children varied their CI significantly from one meal to another more than one in three times. CC offers flexibility and a better quality of life for children using this method.

Is interstitial 8p23 microdeletion responsible of 46,XY gonadal dysgenesis? One case report from birth to puberty.

BACKGROUND: Chromosome 8p deletions are associated with a variety of conditions, including cardiac abnormalities, mental, behavioral problems with variable morphotype and genitourinary anomalies in boys. METHODS: We describe the follow-up over almost 15 years of a boy who initially presented with perineal hypospadias with a micropenis and cryptorchidism with 46,XY DSD. RESULTS: Imaging, pathology, and hormonal exploration suggested gonadal dysgenesis. Further genetic studies were deemed necessary during follow-up. The child's further development recommended further genetic analyses. High-resolution analysis showed an interstitial deletion on the short arm of a chromosome 8: 46,XY,del(8)(p23.1p23.1). We reviewed the literature and found 102 cases including 54 boys: 62.7% had mental problems, 50.9% a dysmorphic disorder, 55.9% cardiac anomalies, and 46.3% of the boys had genitourinary anomalies. Our patient's genital abnormalities can be explained by the haploinsufficiency of the genes, such as GATA4 (OMIM 600576) that are included in the deleted area. CONCLUSION: This case of severe 46,XY DSD raises the question of the role played by 8p23 microdeletion in gonadal dysgenesis. Clinicians are encouraged to look for this anomaly on chromosome 8 in cases of unexplained gonadal dysgenesis even when few signs suggestive of this anomaly are present.