Perrault syndrome with growth hormone deficiency: a rare autosomal recessive disorder.
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.
Ritesh K
RK
Agrawala
Arun K
AK
Choudhury
Binoy K
BK
Mohanty
Anoj K
AK
Baliarsinha
D000293:Adolescent; D004393:Dwarfism, Pituitary / Q000150:complications* / Q000235:genetics; D005260:Female; D023961:Gonadal Dysgenesis, 46,XX / Q000150:complications* / Q000235:genetics; D006319:Hearing Loss, Sensorineural / Q000150:complications* / Q000235:genetics; D019382:Human Growth Hormone / Q000172:deficiency*; D006801:Humans
D019382:Human Growth Hormone