The growth response to GH treatment is greater in patients with SHOX enhancer deletions compared to SHOX defects

S. H. Donze, C. R. Meijer, S. G. Kant, G. R. J. Zandwijken, A. H. van der Hout, R. M. L. van Spaendonk, A. M. W. van den Ouweland, J. M. Wit, M. Losekoot, W. Oostdijk*

*Corresponding author for this work

    Research output: Contribution to journalArticleAcademicpeer-review

    14 Citations (Scopus)

    Abstract

    Objective: Short stature caused by point mutations or deletions of the short stature homeobox (SHOX) gene (SHOX haploinsufficiency (SHI)) is a registered indication for GH treatment. Patients with a SHOX enhancer deletion (SED) have a similar phenotype, but their response to GH is unknown. It is uncertain if duplications of SHOX or its enhancer (SDUP) cause short stature. This study aimed to describe the clinical characteristics and growth response to GH treatment in patients with aberrations of SHOX and its enhancers.

    Design: In this retrospective multi-center study (2002-March 2014) clinical information was available from 130 patients (72 SHI, 44 SED, and 14 SDUP) of whom 52 patients were treated with GH. We evaluated height, sitting height (SH), arm span, dysmorphic features and indicators of the growth response to GH (delta height SDS, height velocity, and index of responsiveness).

    Results: Patients with SEDs showed similar HtSDS to patients with SHI (-2.3 and -2.6, respectively, P=0.2), but they were less disproportionate (SH/height ratio SDS 2.0 vs 3.1 (P

    Conclusions: Patients with SEDs are equally short, but less disproportionate than patients with SHI, and show a greater response to GH.

    Original languageEnglish
    Pages (from-to)611-621
    Number of pages11
    JournalEuropean Journal of Endocrinology
    Volume173
    Issue number5
    DOIs
    Publication statusPublished - Nov-2015

    Keywords

    • IDIOPATHIC SHORT STATURE
    • LERI-WEILL DYSCHONDROSTEOSIS
    • FOR-GESTATIONAL-AGE
    • HORMONE TREATMENT
    • TURNER-SYNDROME
    • PREPUBERTAL CHILDREN
    • MULTICENTER TRIAL
    • DUTCH CHILDREN
    • GENE
    • DEFICIENCY

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