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Normal Growth Spurt and Final Height despite Low Levels of All Forms of Circulating Insulin-Like Growth Factor-I in a Patient with Acid-Labile Subunit Deficiency

Domené H.M.a · Martínez A.S.a · Frystyk J.c · Bengolea S.V.b · Ropelato M.G.a · Scaglia P.A.a · Chen J.-W.c · Heuck C.d · Wolthers O.D.e · Heinrich J.J.a · Jasper H.G.a
aEndocrinology Research Center (CEDIE), Division of Endocrinology, Ricardo Gutiérrez Children’s Hospital, and bDivision of Pediatrics, J.A. Fernández Hospital, Buenos Aires, Argentina; cMedical Research Laboratories, Clinical Institute and Medical Department M, and dDepartment of Pediatrics, Aarhus University Hospital, Aarhus, and eChildren’s Clinic, Randers, Denmark Horm Res 2007;67:243–249 (DOI:10.1159/000098479)


Background: In a recently described patient with acid-labile subunit (ALS) deficiency, the inability to form ternary complexes resulted in a marked reduction in circulating total insulin-like growth factor (IGF)-I, whereas skeletal growth was only marginally affected. To further study the role of circulating versus locally produced IGF-I in skeletal growth in this patient, we now describe in detail growth changes and their relationship with several components of the circulating IGF system. Design and Methods: We followed growth and development up to the final height in a patient with complete ALS deficiency and determined both spontaneous and growth hormone (GH)-stimulated changes in the IGF system, including measurements of total, free and bioactive IGF-I, total IGF-II and insulin-like growth factor binding protein (IGFBP)-1, IGFBP-2 and IGFBP-3. Results: The patient had a delayed growth and pubertal onset. Six months of GH treatment had no effect on growth. At the age of 19.3 years, he spontaneously completed puberty and had a normal growth spurt for a late adolescent (peak height velocity of 8.4 cm/year). A normal final height was attained at 21.3 years (167.5 cm; –0.78 SDS). During as well as after puberty, basal levels of total, free and bioactive IGF-I were low, as were total IGF-II, IGFBP-1, IGFBP-2 and IGFBP-3. GH treatment for 6 months normalized free IGF-I and increased bioactive IGF-I, but had no effect on growth velocity. Conclusions: This case story shows that in the presence of complete ALS deficiency, a height within normal limits can be obtained despite low levels of all forms of circulating IGF-I. Furthermore, the patient presented a delayed but normal growth spurt without any marked increment of circulating IGF-I.


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