GCK mutation in a child with maturity onset diabetes of the young, type 2

Maturity onset diabetes of the young type 2 [MODY] is an inherited disorder due to mutations in glucokinase [GCK] gene, which lead to mild fasting hyperglycemia. Herein an otherwise healthy 9-year old boy with hyperglycemia is presented in whom the diagnosis of MODY2 was suspected. Genetic studies showed heterozygous inactivating GCK gene mutation in exon 8 [c.1010delA] in this patient. The same mutation was found in his father as well. The patient received some dietary advices without any medication. The identification of GCK mutation and diagnosis of MODY2 helps the clinicians to predict the disease course, prognosis and to exclude other types of diabetes

Reliability of pubertal self assessment method: an Iranian study

This investigation aims to evaluate the validity of a Persian Tanner Stages Self-Assessment ? Questionnaire. In this cross sectional study, 190 male students aged 8-16 years selected from three layers of different regions of Tehran [North, Central and South] were enrolled. A Persian questionnaire illustrated with Tanner stages of puberty [genital development and pubic hair distribution] was prepared. Children were asked to select the illustration that best described their pubertal development. Tanner status of the children was also estimated by an independent physician using physical examination. The degree of agreement between subjects' judgments with assessments made by the rater was compared through the calculation of the weighted kappa statistic coefficient. We found a substantial agreement between self-assessment of pubertal development made by the children and doctor's assessment of genital development [kappa=0.63, P<0.0001] and also the pubic hair distribution [kappa= 0.74, P<0.0001]. Although a large proportion of subjects in G4 [89.2%] and G5 [85.7%] were capable of accurately or almost accurately identifying their own Tanner sexual stages, some degree of disagreement was observed in G3 Tanner stage [%46.9]. Self-assessment of puberty should be used very cautiously and may not be a substitute method for routine evaluation of pubertal state especially for early and mid pubertal groups

Acanthosis nigricans. abnormal facial appearance and dentition in an insulin resistance syndrome

Insulin resistance syndromes are a heterogeneous group of disorders with variable clinical phenotypes, associated with increased blood glucose and insulin levels. Herein, a 10-year old girl with abnormal face and dentition is presented. She has suffered from diabetes mellitus type 1 since she was 6 years old. Hyperglycemia did not respond to age appropriate insulin dosage; therefore, insulin dosage was increased, but did not lead to appropriate glycemic control. Twenty two exons of insulin receptor gene [INSR], on short arm of chromosome 19, were sequenced, but no identifiable disease causing mutation was detected. Although a rare mutation within the intronic or promoter region has not been exduded in this case, further molecular studies on patients with insulin resistance syndromes associated with certain features are needed