| Autor: |
Agrawala, Ritesh K., Choudhury, Arun K., Mohanty, Binoy K., Baliarsinha, Anoj K. |
| Zdroj: |
Journal of Pediatric Endocrinology & Metabolism; Sep2015, Vol. 28 Issue 9/10, p1005-1007, 3p |
| Abstrakt: |
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. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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