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

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<0.01) and extremities/trunk ratio 2.57 vs 2.43 (P=0.03)). The 1st year growth response to GH treatment was significantly greater in prepubertal patients with SEDs than SHI. None of the patients with an SDUP was disproportionate and SDUP cosegregated poorly with short stature; their growth response to GH treatment (n=3) was similar to the other groups. CONCLUSIONS:Patients with SEDs are equally short, but less disproportionate than patients with SHI, and show a greater response to GH.

journal_name

Eur J Endocrinol

journal_title

European journal of endocrinology

authors

Donze SH,Meijer CR,Kant SG,Zandwijken GR,van der Hout AH,van Spaendonk RM,van den Ouweland AM,Wit JM,Losekoot M,Oostdijk W

doi

10.1530/EJE-15-0451

subject

Has Abstract

pub_date

2015-11-01 00:00:00

pages

611-21

issue

5

eissn

0804-4643

issn

1479-683X

pii

EJE-15-0451

journal_volume

173

pub_type

杂志文章,多中心研究

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