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Clinical and molecular diagnosis of a cartilage‐hair hypoplasia with IGF‐1 deficiency
Author(s) -
CastillaCortázar Inma,
Rodríguez De Ita Julieta,
MartínEstal Irene,
Castorena Fabiola,
Aguirre Gabriel A.,
García de la Garza Rocío,
Elizondo Martha I.
Publication year - 2017
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.38052
Subject(s) - hypoplasia , cartilage , immunodeficiency , medicine , primary immunodeficiency , disease , immune system , biology , pathology , immunology , anatomy
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.