RESUMEN

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.

Asunto(s)

Enanismo Hipofisario/complicaciones , Disgenesia Gonadal 46 XX/complicaciones , Pérdida Auditiva Sensorineural/complicaciones , Hormona de Crecimiento Humana/deficiencia , Adolescente , Enanismo Hipofisario/genética , Femenino , Disgenesia Gonadal 46 XX/genética , Pérdida Auditiva Sensorineural/genética , Humanos