[Nanism with high values of GH and no generation of somatomedin after hGH (Laron's syndrome). Clinico-biochemical study of 8 cases].
Eight familial cases with Laron type dwarfism (LTD) are presented. An autosomic recessive transmission seems to be possible with clear predominance in females (6/2). This syndrome first described in Jewish people is probably frequent in our country, with clear historic Jewish antecedents in some of our cases. Some features like prenatal growth deficiency, disproportion between face and calvarium and high levels of inmunoreactive GH distinguish clearly LTD from isolated GH-deficiency. The incapability of hGH to increase low somatomedin activity confirms diagnosis. Moreover low or null nitrogen retention after hGH excludes an inactive GH as a cause of dwarfism.
D000328:Adult; D002648:Child; D002675:Child, Preschool; D004393:Dwarfism, Pituitary / Q000097:blood / Q000235:genetics*; D005260:Female; D013006:Growth Hormone / Q000008:administration & dosage / Q000097:blood; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D013002:Somatomedins / Q000378:metabolism
D013002:Somatomedins; D013006:Growth Hormone
Nanismo con valores elevados de GH y no generación de somatomedina tras hGH (síndrome de Laron). Estudio clínico-bioquímico de ocho casos.