open access

Ahead of print
Clinical vignette
Published online: 2021-05-17
Submitted: 2021-03-15
Accepted: 2021-04-23
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Growth hormone therapy in a boy with X-linked spondyloepiphyseal dysplasia tarda: a 3-year observation

Yang Li, Huahong Wu, Hui Li
DOI: 10.5603/EP.a2021.0051
·
Pubmed: 34010451

open access

Ahead of print
Clinical Vignette
Published online: 2021-05-17
Submitted: 2021-03-15
Accepted: 2021-04-23

Abstract

We report a case of SEDT-XL patient who grew 18.4cm after 31 months of GH treatment, reaching the 10th percentile of the height of children of the same sex and age.

Abstract

We report a case of SEDT-XL patient who grew 18.4cm after 31 months of GH treatment, reaching the 10th percentile of the height of children of the same sex and age.

Get Citation

Keywords

X-linked spondyloepiphyseal dysplasia tarda; TRAPPC2 gene; Growth deficiency; Growth hormone

About this article
Title

Growth hormone therapy in a boy with X-linked spondyloepiphyseal dysplasia tarda: a 3-year observation

Journal

Endokrynologia Polska

Issue

Ahead of print

Article type

Clinical vignette

Published online

2021-05-17

DOI

10.5603/EP.a2021.0051

Pubmed

34010451

Keywords

X-linked spondyloepiphyseal dysplasia tarda
TRAPPC2 gene
Growth deficiency
Growth hormone

Authors

Yang Li
Huahong Wu
Hui Li

References (6)
  1. Szpiro-Tapia S, Sefiani A, Guilloud-Bataille M, et al. Spondyloepiphyseal dysplasia tarda: linkage with genetic markers from the distal short arm of the X chromosome. Hum Genet. 1988; 81(1): 61–63.
  2. Sacher M, Jiang Y, Barrowman J, et al. TRAPP, a highly conserved novel complex on the cis-Golgi that mediates vesicle docking and fusion. EMBO J. 1998; 17(9): 2494–2503.
  3. Fiedler J, Le Merrer M, Mortier G, et al. X-linked spondyloepiphyseal dysplasia tarda: Novel and recurrent mutations in 13 European families. Hum Mutat. 2004; 24(1): 103.
  4. Lin Y, Rao Sq, Yang Y, et al. [A novel mutation in the SEDL gene leading to X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008; 25(2): 150–153.
  5. Shaw MA, Brunetti-Pierri N, Kádasi L, et al. Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4. Clin Genet. 2003; 64(3): 235–242.
  6. Li H, Chai Xj, Lu L, et al. [Analysis of SEDL gene mutation in a Chinese pedigree with X-linked spondyloepiphyseal dysplasia tarda]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi . 2014; 31(5): 604–607.

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