Diabetic Ketoacidosis

Objective: The management of children with diabetic ketoacidosis (DKA) continues to be a controversial issue with regard to amount of intravenous fluid to be given, rate of delivery of fluid, and type of fluid to be used. We aimed to analyze the results obtained by administration of rehydration fluids of two different sodium (Na) concentrations (75 mEq/L vs. 100 mEq/L) in the treatment of children with DKA. Methods: Thirty-two children with DKA were assessed for efficacy and safety of fluid treatment. After an initial rehydration time, intravenous fluids were switched to a 5 % dextrose solution with a Na content of 75 mEq/L (Group I, n=19) or 100 mEq/L (Group II, n=13). Venous blood samples were collected from all subjects at diagnosis and at the 4th, 8th, 16th and 24th hours of treatment. Results: Changes in blood glucose levels did not differ significantly between the two groups at the 4th, 8th, 16th and 24th hours of the follow-up. Nadir effective plasma osmolality (Peff osm) and Peff osm levels also did not show statistically significant differences. Plasma sodium (PNa) level did not drop lower than the level at diagnosis in both groups. The changes in PNa concentrations in the two groups were not statistically significant at diagnosis or in follow-up samples (p=0.74). pH, anion gap, pCO2 and HCO3 levels were also similar in Group I and Group II. The duration of a pH level of <7.3 was shorter in Group II, but this was not statistically significant (p=0.65). None of the patients enrolled in this study developed cerebral edema. Conclusion: The efficacy and safety of rehydration fluids with Na concentrations of 75 or 100 mEq/L did not reveal any differences in children with DKA

Celiac disease and autoimmune thyroid disease in children with type 1 diabetes mellitus: clinical and HLA-genotyping results

Objective: Increased prevalence of celiac disease (CD) and autoimmune thyroid disorders (ATD) in patients with Type 1 diabetes mellitus (T1D) has been widely reported. Such an association may lead to adverse effects on the growth, bone metabolism and fertility, and response to therapy may become difficult. The aim of this study was to evaluate the clinical findings and HLA typing results in patients with T1D associated with CD or ATD. Methods: The association of CD and ATD was evaluated in 38 children with T1D aged 1.5-16.8 years who had been followed for 48.3±28 months. Diagnosis of CD was based on positivity for serum endomysial IgA antibody and histopathological findings of intestinal biopsy specimens. Thyroid autoimmunity was assessed by antithyroglobulin and antithyroid peroxidase antibodies and with diagnostic ultrasonographic findings. Results: ATD was detected in 31.5%, and CD-in 7.8% of T1D patients. Subjects with CD showed either no symptoms or suggestive problems such as short stature, hepatosteatosis, pubertal delay and difficulties in the control of diabetes. Patients with ATD had no clinical symptoms. DQ8 was the most prominent finding in CD. Conclusions: It is essential that patients with T1D, regardless of presence or absence of symptoms, should be investigated for CD and ATD

Efficiency of Fluid Treatments with Different Sodium Concentration in Children with Type 1 Diabetic Ketoacidosis

Objective: The management of children with diabetic ketoacidosis (DKA) continues to be a controversial issue with regard to amount of intravenous fluid to be given, rate of delivery of fluid, and type of fluid to be used. We aimed to analyze the results obtained by administration of rehydration fluids of two different sodium (Na) concentrations (75 mEq/L vs. 100 mEq/L ) in the treatment of children with DKA

Two Siblings with Isolated GH Deficiency Due to Loss−of−Function Mutation in the GHRHR Gene: Successful Treatment with Growth Hormone Despite Late Admission and Severe Growth Retardation

Patients with growth hormone releasing hormone receptor (GHRHR) mutations exhibit pronounced dwarfism and are phenotypically and biochemically indistinguishable from other forms of isolated growth hormone deficiency (IGHD). We presented here two siblings with clinical findings of IGHD due to a nonsense mutation in the GHRHR gene who reached their target height in spite of late GH treatment. Two female siblings were admitted to our clinic with severe short stature at the age of 13.8 (patient 1) and 14.8 years (patient 2). On admission, height in patient 1 was 107 cm (−8.6 SD) and 117 cm (−6.7 SD) in patient 2. Bone age was delayed in both patients (6 years and 9 years). Clinical and biochemical analyses revealed a diagnosis of complete IGHD (peak GH levels on stimulation test was 0.06 ng/mL in patient 1 and 0.16 ng/mL in patient 2). Patients were given recombinant human GH treatment. Genetic analysis of the GH and GHRHR genes revealed that both patientscarried the GHRHR gene mutation p.Glu72X (c.214 G>T) in exon 3 in homozygous (or hemizygous) state. After seven years of GH treatment, the patients reached a final height appropriate for their target height. Final height was 151 cm (−1.5 SD) in patient 1 and 153 cm (−1.2 SD) in patient 2. In conclusion, genetic analysis is indicated in IGHD patients with severe growth failure and a positive family history. In spite of the very late diagnosis in these two patients who presented with severe growth deficit due to homozygous loss−of−function mutations in GHRHR, their final heights reached the target height

Case Report: Two Patients with Partial DiGeorge Syndrome Presenting with Attention Disorder and Learning Difficulties

DiGeorge syndrome (DGS) has classically been characterized by the triad of clinical features including congenital cardiac defects, immune deficiencies secondary to aplasia or hypoplasia of the thymus, and hypocalcaemia due to small or absent parathyroid glands. The phenotypic features of these patients are much more variable and extensive than previously ecognized. The acknowledgement of similarities and phenotypic overlap of DGS with other disorders associated with genetic defects in 22q11 has led to an expanded description of the phenotypic features of DGS including palatal/speech abnormalities, as well as cognitive, neurological and psychiatric disorders. Here, we report the cases of two DGS patients with dysmorphic facial features who were initially admitted to the Psychiatry Department for attention disorder and learning difficulties

Synchronous Occurrence of Papillary Carcinoma in the Thyroid Gland and Thyroglossal Duct in an Adolescent with Congenital Hypothyroidism

Thyroid carcinoma (TC) combined with congenital hypothyroidism is rare. The synchronous occurrence of these two conditions is even rarer. We describe a patient with congenital hypothyroidism in whom hyperthyroglobulinemia and nodules developed despite adequate replacement therapy. Papillary TC was detected at age 19 years. Postoperative diagnostic scintigraphy showed increased uptake in the thyroglossal duct region. Repetitive imaging of the thyroid gland can be useful in the early detection of TC in patients with congenital hypothyroidism. Moreover, this rare situation can be complicated by a synchronous thyroglossal duct carcinoma. Thyroglossal duct carcinoma can be detected if diagnostic scintigraphy is performed after total thyroidectomy

Genoa Syndrome and Central Diabetes Insipidus: A Case Report

Genoa syndrome was first described by Camera et al in 1993 in two patients with semilobar holoprosencephaly (HPE), craniosynostosis and abnormal small hands with cone−shaped epiphyses and hypoplastic terminal phalanges of fingers (OMIM: 601370). In 2001, Lapunzina et al reported a case of craniosynostosis and HPE associated with several other malformations and suggested that these findings could be attributed to a severe form of Genoa syndrome or to a newly recognized syndrome. Endocrinopathies in association with HPE are frequently reported in the literature. Diabetes insipidus, hypothyroidism, hypocortisolism, and growth hormone deficiency are frequently associated with HPE. We here report a case of semilobar HPE, craniosynostosis and cleft lip/palate, possibly a case of Genoa syndrome, associated with central diabetes insipidus