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Agrawala R.K.,Sri Ram Chandra Bhanj Medical College and Hospital | Choudhury A.K.,Sri Ram Chandra Bhanj Medical College and Hospital | Mohanty B.K.,Sri Ram Chandra Bhanj Medical College and Hospital | Baliarsinha A.K.,Sri Ram Chandra Bhanj Medical College and Hospital
Journal of Pediatric Endocrinology and Metabolism | Year: 2015

Perrault syndrome is a rare genetically heterogeneous autosomal recessive group of disorders described in 1951 by Perrault as gonadal dysgenesis with deafness. Here we present a rare case of sporadic Perrault syndrome with short stature and growth hormone deficiency (GHD). Although there was a report on partial GHD in Perrault, our case is a first of its kind with documented GHD (Nishi Y, Hamamoto K, Kajiyama M, Kawamura I. The Perrault syndrome: clinical report and review. Am J Med Genet 1988;31:623-9). We report this case because of the rarity of keeping this condition as a differential diagnosis while evaluating for short stature with amenorrhea. © 2015 by De Gruyter. Source


Agrawala R.K.,Sri Ram Chandra Bhanj Medical College and Hospital | Choudhury A.K.,Sri Ram Chandra Bhanj Medical College and Hospital | Mohanty B.K.,Sri Ram Chandra Bhanj Medical College and Hospital | Baliarsinha A.K.,Sri Ram Chandra Bhanj Medical College and Hospital
Journal of Pediatric Endocrinology and Metabolism | Year: 2014

Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare autosomal recessive disorder characterized by a nearly complete absence of adipose tissue and generalized muscular appearance. This condition is associated with various dermatological and systemic manifestations. We report a 5-year-old boy, with clinical and metabolic presentation resembling BSCL and unusual features, such as diabetes detected at an early age and multiple duodenal and colonic polyps. © 2014 by De Gruyter. Source

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