Endocrinal Complications in Children and Adolescents with Thalassemia Major in Central India: An Observational Study.

Objective: To determine the prevalence of short stature, delayed puberty, hypothyroidism, and diabetes mellitus in multiply transfused patients of beta thalassemia major and their correlation with serum ferritin.

Methods: A descriptive observational study was conducted in a tertiary care center in Indore, Madhya Pradesh from 2014 to 2016. All children with thalassemia major of the age group 8 to 18 y attending outpatient department or admitted in ward were included in the study.

A rare case of acute intermittent porphyria with ichthyosis vulgaris in a young boy.

Acute intermittent porphyria (AIP) and ichthyosis vulgaris both are autosomal dominant disorders with incomplete penetrance caused by the deficiency of porphobilinogen deaminase enzyme and filaggrin protein, respectively. We report a rare case of a 9-year-old boy having two genetic diseases with an unclear association. An acute attack of AIP is characterized by gastrointestinal symptoms and neuropsychiatric manifestations.