title: Clinical and molecular diagnosis of a cartilage-hair hypoplasia with IGF-1 deficiency.
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.
authors.affiliation: Escuela Nacional de Medicina, CITES, Tecnologico de Monterrey, Monterey, Neuvo Leon, Mexico.|Fundacion para la Investigacion, HM Hospitales, Madrid, Spain.
authors.forename: Inma
authors.initials: I
authors.lastname: Castilla-Cortázar
authors.affiliation: Escuela Nacional de Medicina, CITES, Tecnologico de Monterrey, Monterey, Neuvo Leon, Mexico.
authors.forename: Julieta
authors.initials: J
authors.lastname: Rodríguez De Ita
authors.affiliation: Escuela Nacional de Medicina, CITES, Tecnologico de Monterrey, Monterey, Neuvo Leon, Mexico.
authors.forename: Irene
authors.initials: I
authors.lastname: Martín-Estal
authors.affiliation: Escuela Nacional de Medicina, CITES, Tecnologico de Monterrey, Monterey, Neuvo Leon, Mexico.
authors.forename: Fabiola
authors.initials: F
authors.lastname: Castorena
authors.affiliation: Escuela Nacional de Medicina, CITES, Tecnologico de Monterrey, Monterey, Neuvo Leon, Mexico.
authors.forename: Gabriel A
authors.initials: GA
authors.lastname: Aguirre
authors.affiliation: Escuela Nacional de Medicina, CITES, Tecnologico de Monterrey, Monterey, Neuvo Leon, Mexico.
authors.forename: Rocío
authors.initials: R
authors.lastname: García de la Garza
authors.affiliation: Escuela Nacional de Medicina, CITES, Tecnologico de Monterrey, Monterey, Neuvo Leon, Mexico.
authors.forename: Martha I
authors.initials: MI
authors.lastname: Elizondo
mesh_terms: D000293:Adolescent; D015415:Biomarkers; D056726:Genetic Association Studies; D005820:Genetic Testing; D005838:Genotype; D006197:Hair / Q000002:abnormalities*; D006627:Hirschsprung Disease / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis* / Q000235:genetics*; D007334:Insulin-Like Growth Factor I / Q000172:deficiency / Q000235:genetics*; D053614:Janus Kinase 2 / Q000235:genetics; D008297:Male; D010009:Osteochondrodysplasias / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D010641:Phenotype; D010808:Physical Examination; D020641:Polymorphism, Single Nucleotide; D000081207:Primary Immunodeficiency Diseases; D011859:Radiography
chemical_list: D015415:Biomarkers; D007334:Insulin-Like Growth Factor I; D053614:Janus Kinase 2
keywords: GHR; IGF-1; RMRP gene; cartilage-hair hypoplasia