Clinical and molecular diagnosis of a cartilage-hair hypoplasia with IGF-1 deficiency

Am J Med Genet A. 2017 Feb;173(2):537-540. doi: 10.1002/ajmg.a.38052. Epub 2016 Nov 14.

Abstract

Cartilage-hair hypoplasia syndrome (CHH) is a rare autosomal recessive condition characterized by metaphyseal chondrodysplasia and characteristic hair, together with a myriad of other symptoms, being most common immunodeficiency and gastrointestinal complications. A 15-year-old Mexican male initially diagnosed with Hirschsprung disease and posterior immunodeficiency, presents to our department for genetic and complementary evaluation for suspected CHH. Physical, biochemical, and genetic studies confirmed CHH together with IGF-1 deficiency. For this reason, we propose IGF-1 replacement therapy for its well-known actions on hematopoiesis, immune function and maturation, and metabolism. © 2016 Wiley Periodicals, Inc.

Keywords: GHR; IGF-1; RMRP gene; cartilage-hair hypoplasia.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Biomarkers
  • Genetic Association Studies*
  • Genetic Testing
  • Genotype
  • Hair / abnormalities*
  • Hirschsprung Disease / diagnosis*
  • Hirschsprung Disease / genetics*
  • Humans
  • Immunologic Deficiency Syndromes / diagnosis*
  • Immunologic Deficiency Syndromes / genetics*
  • Insulin-Like Growth Factor I / deficiency
  • Insulin-Like Growth Factor I / genetics*
  • Janus Kinase 2 / genetics
  • Male
  • Osteochondrodysplasias / congenital*
  • Osteochondrodysplasias / diagnosis
  • Osteochondrodysplasias / genetics
  • Phenotype*
  • Physical Examination
  • Polymorphism, Single Nucleotide
  • Primary Immunodeficiency Diseases
  • Radiography

Substances

  • Biomarkers
  • Insulin-Like Growth Factor I
  • Janus Kinase 2

Supplementary concepts

  • Cartilage-hair hypoplasia