TY - JOUR
T1 - Bloom syndrome in short children born small for gestational age
T2 - A challenging diagnosis
AU - Renes, Judith S.
AU - Willemsen, Ruben H.
AU - Wagner, Anja
AU - Finken, Martijn J. J.
AU - Hokken-Koelega, Anita C. S.
PY - 2013/10
Y1 - 2013/10
N2 - Background: GH treatment has become a frequently applied growth-promoting therapy in short children born small for gestational age (SGA). In some disorders GH treatment is contraindicated, eg, chromosomal breakage syndromes. Bloom syndrome is a rare chromosomal breakage syndrome characterized by severe pre- and postnatal growth deficiency, a photosensitive facial erythema, immunodeficiency, mental retardation or learning disabilities, endocrinopathies, and a predisposition to develop a wide variety of cancers. Objective: We report 2 patients with Bloom syndrome illustrating the variety in clinical manifes-tations. They were initially diagnosed with shortstature after SGA birth and Silver Russell syndrome and treated with GH. Cases: Both patients presented with pre- and postnatal growth failure but no clear other characteristic features associated with Bloom syndrome. Photosensitive skin lesions developed only at a pubertal age and were minimal. Also, both children showed normal immunoglobulin levels, normal development, and no signs of endocrino pathiesat start of GH. Dysmorphic features resembling Silver Russell syndrome were observed in both patients. Remarkably, during GH treatment IGF-1 levels increased to values greater than 3.5 SD score, with normal IGF binding protein-3 levels. Conclusion: Short children born SGA comprise a heterogeneous group. Bloom syndrome should be tested for in children with consanguineous parents, dysmorphic features (particularly resembling Silver Russell syndrome), skin abnormalities, and/or IGF-1 levels greater than 2.5 SD score during standard GH treatment with normal IGF binding protein-3 levels. Copyright © 2013 by The Endocrine Society.
AB - Background: GH treatment has become a frequently applied growth-promoting therapy in short children born small for gestational age (SGA). In some disorders GH treatment is contraindicated, eg, chromosomal breakage syndromes. Bloom syndrome is a rare chromosomal breakage syndrome characterized by severe pre- and postnatal growth deficiency, a photosensitive facial erythema, immunodeficiency, mental retardation or learning disabilities, endocrinopathies, and a predisposition to develop a wide variety of cancers. Objective: We report 2 patients with Bloom syndrome illustrating the variety in clinical manifes-tations. They were initially diagnosed with shortstature after SGA birth and Silver Russell syndrome and treated with GH. Cases: Both patients presented with pre- and postnatal growth failure but no clear other characteristic features associated with Bloom syndrome. Photosensitive skin lesions developed only at a pubertal age and were minimal. Also, both children showed normal immunoglobulin levels, normal development, and no signs of endocrino pathiesat start of GH. Dysmorphic features resembling Silver Russell syndrome were observed in both patients. Remarkably, during GH treatment IGF-1 levels increased to values greater than 3.5 SD score, with normal IGF binding protein-3 levels. Conclusion: Short children born SGA comprise a heterogeneous group. Bloom syndrome should be tested for in children with consanguineous parents, dysmorphic features (particularly resembling Silver Russell syndrome), skin abnormalities, and/or IGF-1 levels greater than 2.5 SD score during standard GH treatment with normal IGF binding protein-3 levels. Copyright © 2013 by The Endocrine Society.
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84885199755&origin=inward
UR - https://www.ncbi.nlm.nih.gov/pubmed/23928670
U2 - https://doi.org/10.1210/jc.2013-2491
DO - https://doi.org/10.1210/jc.2013-2491
M3 - Article
C2 - 23928670
SN - 0021-972X
VL - 98
SP - 3932
EP - 3938
JO - Journal of clinical endocrinology and metabolism
JF - Journal of clinical endocrinology and metabolism
IS - 10
ER -