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. Detailed clinical history, demographic data, compliance to transfusion and chelation therapy, and growth parameters were recorded. Blood samples to look for endocrinopathies and serum ferritin were assessed. Tanner staging was done to assess for delayed puberty. RESULTS: Mean age of study participants (n = 50) was 15.98 ± 3.4 y. Short stature (n = 44; 88%), delayed puberty (n = 33; 71.7%), hypothyroidism (n = 6; 16%), and diabetes mellitus (n = 5; 10%) were the endocrinal abnormalities found. Mean serum ferritin level was 3122 ± 2117 ng/mL. Serum ferritin had significant positive correlation with serum TSH (thyroid stimulating hormone), fasting blood sugars, postprandial blood sugar, and delayed puberty. CONCLUSION: Evaluation of endocrinopatines must be carried out in thalassemia major patients regularly by pediatricians to detect and treat endocrinal complications. Importance of chelation therapy must be emphasized frequently to parents and patients.

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. Although rare in the first decade of life, the presence of reddish urine with a typical presentation such as abdominal pain, hypertension, seizure, and paresthesias lead us to the diagnosis of AIP. The precipitating factor in the present case was prolonged fasting in Ramadan.