Perrault syndrome with growth hormone deficiency: a rare autosomal recessive disorder

Journal of Pediatric Endocrinology & Metabolism : JPEM
Ritesh K AgrawalaAnoj K Baliarsinha

Abstract

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.

References

Jan 1, 1992·The American Journal of Otology·O L CruzC A Caropreso
Nov 1, 1988·American Journal of Medical Genetics·Y NishiI Kawamura
Oct 30, 2004·Journal of Obstetrics and Gynaecology : the Journal of the Institute of Obstetrics and Gynaecology·D S Nikolaou, R M Winston
Sep 18, 2007·Journal of Pediatric and Adolescent Gynecology·Jubbin J JacobNihal Thomas
Feb 5, 2008·American Journal of Medical Genetics. Part a·Sandrine MarlinFrançoise Denoyelle
Oct 23, 2012·Indian Journal of Endocrinology and Metabolism·K H Noorul Ameen, Rakesh Pinninti

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Citations

Sep 10, 2015·Journal of Pediatric Endocrinology & Metabolism : JPEM·Wieland KiessJürgen Kratzsch
Sep 16, 2016·Clinical Genetics·R FaridiT B Friedman

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