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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.


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.


PubMed | Sri Ram Chandra Bhanj Medical College and Hospital
Type: Journal Article | Journal: Indian journal of endocrinology and metabolism | Year: 2013

The sex of an embryo is determined by genetic sex due to presence or absence of Y chromosome, but it may not be true in all. We hereby report an interesting case of a phenotypic male carrying a female karyotype (46 XX). A 26-year-old male presented with bilateral gynecomastia, poor development of secondary sexual characters and azospermia. On evaluation patient had hypergonadotrophic hypogonadism and chromosomal analysis revealed 46 XX karyotype. The ultrasound revealed no Mullerian structures. Fluorescent in situ hybridization (FISH) showed sex determining region of Y chromosome (SRY) gene locus on X chromosome.

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