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

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.

• Authors: Ritesh K Agrawala, Arun K Choudhury, Binoy K Mohanty, Anoj K Baliarsinha
• Journal: Journal of pediatric endocrinology & metabolism : JPEM (J Pediatr Endocrinol Metab) Vol. 28 Issue 9-10 Pg. 1005-7 (Sep 2015) ISSN: 2191-0251 [Electronic] Germany
• PMID: 25741941 (Publication Type: Case Reports, Journal Article)

Chemical References

• Human Growth Hormone

Topics

• Adolescent
• Dwarfism, Pituitary (complications, genetics)
• Female
• Gonadal Dysgenesis, 46,XX (complications, genetics)
• Hearing Loss, Sensorineural (complications, genetics)
• Human Growth Hormone (deficiency)
• Humans