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We report a patient with a de novo telomeric association between chromosomes 19 and Y in conjunction with mixed gonadal dysgenesis. The patient was first admitted to the clinic because of abnormal external genitalia. Laparoscopic evaluation revealed (1) a rudimentary uterus, one fallopian tube, and a small gonad resembling an ovary on the right side, and (2) an immature fallopian tube, a vas deferens, and a gonad resembling a testis on the left side. Conventional cytogenetic analysis performed on cultivated peripheral blood cells, and tissue obtained from the phallus and a gonadal structure which resembled a testis revealed two different cell lines with the 46,X,tas (Y;19)(p11.3;q13.4) and 45,X karyotype. Y chromosome microdeletion analysis showed that the patient did not have any genomic deletions in the AZFa, b, c, or SRY regions on the long arm of the Y chromosome. This is the first report of a patient with mixed gonadal dysgenesis that is accompanied by a telomeric association between chromosomes 19 and Y with 45,X mosaicism.

Our aim was to evaluate prospectively, in our diabetic patients, the impacts of a summer camp and intensive insulin treatment (IIT) on both metabolic control and disease-related educational level. Twenty-five patients participated in a 7-day-long summer camp. Before the camp, all patients were on therapy with short-acting human insulin (SAI) and intermediate-acting insulin (IAI) twice daily. On arrival, their insulin therapy regimen was changed by IIT including either SAI or rapid-acting insulin analogue (RAI) three times before meals supplemented by IAI at bedtime. Following the camp, all participants were given IIT with RAI plus IAI. Frequency of hypoglycaemia, insulin dose, body mass index (BMI) and glycohaemoglobin (HbA1c) levels were assessed at pre-camp and post-camp controls. To evaluate the effectiveness of camp-assisted education, all participants were regularly tested. We observed significant elevations in total daily dose of insulin and BMI at months 3 and 6 when compared with the pre-camp values but, by month 12, they were not significantly different from precamp values. The mean HbA(1c) level decreased significantly at months 6 and 12. Severe hypoglycaemic episodes and ketoacidosis were not detected during the camp and the following year. Significant improvements in knowledge about diabetes and self-management were determined at the end of the camp, after 6 and 12 months. Camp-assisted IIT with RAI improved metabolic control of diabetic children. Additionally, camp-assisted education has a positive effect on disease-related educational level and self-management.

To evaluate the effectiveness of diabetic summer camps with objective parameters, we examined the data relative to summer camps organized by our department in Antalya in the last two years. The duration of the camps was 10 days. Twenty-eight diabetic children with an average age of 13.6 +/- 2.9 years (range 8-20) participated in the first camp, fourteen of whom participated in both camps. The medical personnel consisted of three pediatric endocrinologists, one psychologist, two diabetes nurses and two dietitians. Despite a mean 10% reduction in insulin dosage and 10% increment in daily calorie intake at the beginning of the camp, hypoglycemia was common (mean, 2.4 hypoglycemic episodes per subject). Ketoacidosis was not encountered in any of the subjects during and after camps. An increment in weight in children whose weights, with respect to heights, were under the ideal weight and a decrement in weight of overweight children were observed at the end of the first camp. A significant improvement in knowledge and self-management of the disease was noted at the end of the camps. Improvement in nutrition and diabetic knowledge level of the children who participated in these consecutive camps was more obvious in the second compared with that in the first camp. No significant change in HbA1c level was observed at follow-up. In conclusion, summer camps are an invaluable way for diabetic children to gain skills in managing their disease.