Childhood diabetes mellitus

published_or_final_versio

Approach and management of constitutional delay in growth and sexual maturation

Constitutional delay in growth and puberty is a common and benign condition for which treatment is usually not indicated. However, there is mounting evidence suggesting that adults with a history of constitutional delay in growth and puberty have a lower bone mineral content and density than the normal population. The psychological stress of being short during adolescence may also induce long lasting impact on their social and career development. Appropriate timing of hormonal treatment of such adolescents can advance the timing of height acceleration without compromising their final adult height. In this review, I will discuss the rationale of this approach.published_or_final_versio

Ambiguous genitalia

published_or_final_versio

Inborn errors of metabolism: Clinical approach and management

Although individual metabolic disorders are rare, collectively, inborn errors of metabolism are not uncommon and paediatricians should be alert to the possibility of such disorders. The presenting symptoms are frequently non-specific and may include lethargy, poor feeding, vomiting, coma, and seizures. After investigations, appropriate therapeutic options including exchange transfusion, peritoneal- and haemo-dialysis, forced diuresis, mega-dosing of vitamin cofactors, and special dietary therapy can be instituted, depending on the diagnosis. Somatic gene therapy may offer hope of a cure for inborn errors of metabolism in the future.published_or_final_versio

Phaeochromocytoma in children

Phaeochromocytoma is a rare disease in childhood with a subtle and wide range of clinical presentations. We report two confirmed cases and one potential case of phaeochromocytoma, each belonging to a different disease spectrum or syndromal disorder, namely sporadic phaeochromocytoma, von Hippel-Lindau disease, and multiple endocrine neoplasia type 2a. Knowledge of the molecular basis of the condition helps to make the diagnosis. Affected individuals and their family members should be screened for any associated syndromal disorders that can carry a substantial degree of morbidity and mortality.published_or_final_versio

Convulsions and Shigellosis

The records of 97 children with culture-proven Shigellosis were reviewed in order to assess the frequency and risk factors of convulsions associated with this infection. Thirteen (13.4%) had convulsions, three of whom had additional features suggestive of encephalopathy. Clinical and laboratory data were compared between patients with and without convulsions to define the risk factors for the development of seizures. A high peak temperature and high band forms in excess of 10% of the differential white cell count were significant risk factors. Age, sex, family history of febrile seizure or epilepsy, and the Shigella strain were not significant risk factors.published_or_final_versio

The clinical significance of aldosterone synthase deficiency: report of a novel mutation in the CYP11B2 gene

published_or_final_versio