Clinical, biochemical and molecular investigations of three Taiwanese children with Laron syndrome

Chen Yang; Yi-Ru Chen; Chien-Cheng Lai; Hsiu Chen Lin; Geng Chang Yeh; Hsun-Hui Hsu

doi:10.1515/JPEM.2004.17.2.165

Clinical, biochemical and molecular investigations of three Taiwanese children with Laron syndrome

Chen Yang, Yi-Ru Chen, Chien-Cheng Lai, Hsiu Chen Lin, Geng Chang Yeh, Hsun-Hui Hsu

Research output: Contribution to journal › Article › peer-review

9 Citations (Scopus)

Abstract

Three children of two Taiwanese families were diagnosed with Laron syndrome, two sisters and one boy. Both sets of parents were consanguineous. Clinically, all three presented with the typical craniofacies of Laron syndrome, consisting of prominent forehead and hypoplastic nasal bridge, high-pitched voice, short stature, and central obesity. Biochemically, their levels of serum IGF-I were less than 5 μg/ml before and after an IGF-I generation test, and levels of IGFBP-3 were reduced in all three patients. Sequence analysis of the growth hormone receptor gene revealed that all three carried a homozygous missense D152G mutation in exon 6.

Original language	English
Pages (from-to)	165-171
Number of pages	7
Journal	Journal of Pediatric Endocrinology and Metabolism
Volume	17
Issue number	2
DOIs	https://doi.org/10.1515/JPEM.2004.17.2.165
Publication status	Published - 2004

Keywords

Dwarfism
Growth hormone receptor
IGF-I deficiency
Laron syndrome
Mutation

ASJC Scopus subject areas

Endocrinology
Pediatrics, Perinatology, and Child Health
Endocrinology, Diabetes and Metabolism

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Access to Document

10.1515/JPEM.2004.17.2.165

Cite this

@article{fd11676ecc6349779ded1667e9ef40a2,

title = "Clinical, biochemical and molecular investigations of three Taiwanese children with Laron syndrome",

abstract = "Three children of two Taiwanese families were diagnosed with Laron syndrome, two sisters and one boy. Both sets of parents were consanguineous. Clinically, all three presented with the typical craniofacies of Laron syndrome, consisting of prominent forehead and hypoplastic nasal bridge, high-pitched voice, short stature, and central obesity. Biochemically, their levels of serum IGF-I were less than 5 μg/ml before and after an IGF-I generation test, and levels of IGFBP-3 were reduced in all three patients. Sequence analysis of the growth hormone receptor gene revealed that all three carried a homozygous missense D152G mutation in exon 6.",

keywords = "Dwarfism, Growth hormone receptor, IGF-I deficiency, Laron syndrome, Mutation",

author = "Chen Yang and Yi-Ru Chen and Chien-Cheng Lai and Lin, {Hsiu Chen} and Yeh, {Geng Chang} and Hsun-Hui Hsu",

year = "2004",

doi = "10.1515/JPEM.2004.17.2.165",

language = "English",

volume = "17",

pages = "165--171",

journal = "Journal of Pediatric Endocrinology and Metabolism",

issn = "0334-018X",

publisher = "Walter de Gruyter GmbH",

number = "2",

}

TY - JOUR

T1 - Clinical, biochemical and molecular investigations of three Taiwanese children with Laron syndrome

AU - Yang, Chen

AU - Chen, Yi-Ru

AU - Lai, Chien-Cheng

AU - Lin, Hsiu Chen

AU - Yeh, Geng Chang

AU - Hsu, Hsun-Hui

PY - 2004

Y1 - 2004

N2 - Three children of two Taiwanese families were diagnosed with Laron syndrome, two sisters and one boy. Both sets of parents were consanguineous. Clinically, all three presented with the typical craniofacies of Laron syndrome, consisting of prominent forehead and hypoplastic nasal bridge, high-pitched voice, short stature, and central obesity. Biochemically, their levels of serum IGF-I were less than 5 μg/ml before and after an IGF-I generation test, and levels of IGFBP-3 were reduced in all three patients. Sequence analysis of the growth hormone receptor gene revealed that all three carried a homozygous missense D152G mutation in exon 6.

AB - Three children of two Taiwanese families were diagnosed with Laron syndrome, two sisters and one boy. Both sets of parents were consanguineous. Clinically, all three presented with the typical craniofacies of Laron syndrome, consisting of prominent forehead and hypoplastic nasal bridge, high-pitched voice, short stature, and central obesity. Biochemically, their levels of serum IGF-I were less than 5 μg/ml before and after an IGF-I generation test, and levels of IGFBP-3 were reduced in all three patients. Sequence analysis of the growth hormone receptor gene revealed that all three carried a homozygous missense D152G mutation in exon 6.

KW - Dwarfism

KW - Growth hormone receptor

KW - IGF-I deficiency

KW - Laron syndrome

KW - Mutation

UR - http://www.scopus.com/inward/record.url?scp=3142698476&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=3142698476&partnerID=8YFLogxK

U2 - 10.1515/JPEM.2004.17.2.165

DO - 10.1515/JPEM.2004.17.2.165

M3 - Article

C2 - 15055350

AN - SCOPUS:3142698476

SN - 0334-018X

VL - 17

SP - 165

EP - 171

JO - Journal of Pediatric Endocrinology and Metabolism

JF - Journal of Pediatric Endocrinology and Metabolism

IS - 2

ER -

Clinical, biochemical and molecular investigations of three Taiwanese children with Laron syndrome

Abstract

Keywords

ASJC Scopus subject areas

UN SDGs

Access to Document

Other files and links

Fingerprint

Cite this