Konstantina Mouzaki

Association between magnesium concentration and HbA1c in children and adolescents with type 1 diabetes mellitus (儿童与青少年1型糖尿病患者的镁浓度与HbA1c之间的关系)

Magnesium levels may be decreased in patients with type 1 diabetes mellitus (T1DM), influencing disease control. Relevant studies concern mainly adults and there are few data from the pediatric population. The aim of the present study was to evaluate magnesium levels and examine their possible association with glycemic control in youths with T1DM.

Association between magnesium concentration and HbA1c in children and adolescents with type 1 diabetes mellitus

Magnesium levels may be decreased in patients with type 1 diabetes mellitus (T1DM), influencing disease control. Relevant studies concern mainly adults and there are few data from the pediatric population. The aim of the present study was to evaluate magnesium levels and examine their possible association with glycemic control in youths with T1DM.

Suboptimal glycaemic control enhances the risk of impaired prothrombotic state in youths with type 1 diabetes mellitus

Objective: To estimate markers of prothrombotic state and endothelial dysfunction in youths with type 1 diabetes mellitus (T1DM) and investigate possible associations with anthropometric/demographic data, glycaemic control and lipid profile. Methods: In a cross-sectional design, we recruited 155 youths with T1DM and determined levels of plasminogen activator inhibitor-1-antigen (PAI-1-Ag), von Willebrand factor-antigen (vWF-Ag), fibrinogen (FB), lipids and glycosylated haemoglobin (HbA1c). Results: Of all the participants, 76 (49%) had increased levels of at least one of prothrombotic factors. Suboptimal glycaemic control was associated with a worse lipid profile and an eightfold increased risk of elevated vWF-Ag levels. Higher vWF-Ag concentrations were also correlated with impaired lipid profile and increased HbA1c values, whereas PAI-1-Ag was positively correlated only with triglyceride levels. After adjustment for potential confounders, only HbA1c contributed independently to the variation in vWF-Ag levels. Conclusion: Impaired prothrombotic state and consequently endothelial dysfunction are present in youths with T1DM, representing a cumulative risk factor for future cardiovascular disease (CVD). Achievement and maintenance of euglycaemia and normolipidaemia are crucial to decelerate progress of this process.

Secondary nocturnal enuresis related to central diabetes insipidus as an early manifestation of intracranial germinomatous germ cell tumors in a series of male youngsters

Nocturnal enuresis is a common symptom in children. It is usually attributed to benign causes and diagnostic evaluation is not carried out. We report three male young patients initially presenting with short stature and nocturnal enuresis, related to diabetes insipidus, caused by intracranial germinomatous germ cell tumors. In all three cases, water deprivation tests confirmed diabetes insipidus. Extensive endocrinological investigation also showed further hormone deficiencies. Magnetic resonance imaging of the brain revealed the presence of a central nervous system lesion and histology confirmed the final diagnosis. Surgery, radiation with or without chemotherapy was conducted and the patients were treated with hormone replacement therapies. The patients after a long follow-up were free of disease. We present these cases to alert clinicians to bear in mind that the presence of an intracranial germinomatous germ cell tumor should at least be considered in a child presenting with bed wetting, especially if additional symptoms and signs, including late onset puberty and growth delay or morning hypernatremia, may coexist.

The Intervention of Parents in Supporting of Diabetes Type 1 in Adolescents

Introduction: The presence of parents is very important as it enhances the psychology of adolescents resulting to the normal course of the disease. Aim: Investigate the perceptions of adolescents in order to support families in the management of T1D. Material & Methods: It is a descriptive study and 56 patients participated. The Diabetes Social Support Questionnaire-Family Version (DSSQ-Family) and some demographic and clinical characteristics were used. The study conducted in the outpatient unit for pediatric diabetology of the 4th Department of Pediatrics in one tertiary General Hospital in a major city of Northern Greece. Results: Younger adolescents felt more supported by their families. Overweight adolescents experienced less support with respect to insulin injections (p = -.333, r = .018), as did the taller respondents (p = -.323, r = .022). Respondents taking more insulin units felt less supported in general (p = -.268, r = .047) and with respect to blood tests (p = -.290, r = .034). Adolescents carrying out more blood glucose measurements felt less supported concerning their meal plan (p =-.307, r = .028), which they rarely complied with (p =-.322, r = .023). Conclusions: The parental presence is very important enhancing a positive mindset on the part of adolescents and helps achieve the desired treatment results.

Testicular microlithiasis in a boy with X-linked adrenal hypoplasia congenita

X-linked adrenal hypoplasia congenita (AHC) is a rare disorder that usually presents clinically as adrenal insufficiency in early infancy. It is caused by mutations in the NR0B1 gene which is located on the short arm of chromosome X (Xp21). The NR0B1 gene plays an important role in normal development and function of both the adrenal and gonadal axes and some patients with the disease can present in adolescence with hypogonadotropic hypogonadism. Testicular microlithiasis is an ultrasonographic finding of unknown etiology that has been associated with several benign conditions such as cryptorchidism, congenital adrenal hyperplasia, varicoceles, and testicular malignancy. We report the case of an 11-year-old boy who was diagnosed at the age of 8 months with X-linked AHC due to adrenal failure and presented testicular microlithiasis during follow-up. To the best of our knowledge, this is the first case of an X-linked AHC patient diagnosed with testicular microlithiasis in follow-up.

46,XY disorder of sex development due to 17-beta hydroxysteroid dehydrogenase type 3 deficiency in an infant of Greek origin

17-beta hydroxysteroid dehydrogenase type 3 (17βHSD-3) enzyme catalyzes the conversion of androstenedione (Δ4) to testosterone (T) in the testes of the developing fetus, thus playing a crucial role in the differentiation of the gonads and in establishing the male sex phenotype. Any mutation in the encoding gene (HSD17B3) can lead to varying degrees of undervirilization of the affected male, ranging from completely undervirilized external female genitalia to predominantly male with micropenis and hypospadias. We present here an infant who was referred to our clinic because of ambiguous genitalia at birth. Gonads were palpable in the inguinal canal bilaterally and no Müllerian structures were identified on pelvic ultrasound. Because of a low T/Δ4 ratio after a human chorionic gonadotropin stimulation test, a tentative diagnosis of 17βHSD-3 deficiency was made which was confirmed after genetic analysis of the HSD17B3 gene of the patient. The molecular analysis identified compound heterozygosity of two previously described mutations and could offer some further validation for the idea of a founder effect for 655-1;G→A mutation in the Greek population.

Association between magnesium concentration and HbA1c in children and adolescents with type 1 diabetes mellitus (儿童与青少年1型糖尿病患者的镁浓度与HbA1c之间的关系): Hypomagnesemia in youths with T1DM

Magnesium levels may be decreased in patients with type 1 diabetes mellitus (T1DM), influencing disease control. Relevant studies concern mainly adults and there are few data from the pediatric population. The aim of the present study was to evaluate magnesium levels and examine their possible association with glycemic control in youths with T1DM.