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Cited by 71Growth Hormone and Insulin-like Growth FactorsThyroid Disorders and TreatmentsGenomics and Rare Diseases

Novel compound heterozygous mutations in the SBP2 gene: characteristic clinical manifestations and the implications of GH and triiodothyronine in longitudinal bone growth and maturation

Hamajima, Takashi, Mushimoto, Yuichi, Kobayashi, Hironori, Saito, Yoshiro, Onigata, Kazumichi·2012·European Journal of Endocrinology
DOI 10.1530/eje-11-0812
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Abstract

Objective: Mutations in the selenocysteine insertion sequence binding protein 2 gene (SECISBP2 also known as SBP2) lead to a multisystemic disorder. Our objectives are to examine the clinical manifestations of the present patient and evaluate the effects of GH and triiodothyronine (T 3) for longitudinal bone growth and maturation. Methods: A Japanese boy presented with unusual thyroid function tests (normal or slightly elevated TSH, low-normal or slightly decreased free T 3 (FT 3), and elevated free thyroxine (FT 4)), short stature without GH deficiency, and delayed bone maturation. The entire coding region of the patient's SBP2 was analyzed. GH treatment was initiated when the patient was 4 years old, and combination therapy with GH plus T 3 was started when the patient was 10 years old. We monitored the patient's height and bone age until he was 11 years old. Results: The patient showed typical symptoms of SBP2 deficiency, and novel compound heterozygous mutations were identified in SBP2 (p.M515fsX563/p.Q79X). Six years of GH monotherapy improved the patient's height s.d. from −3.4 to −1.7 without accelerating bone maturation, whereas 6 months of T 3 treatment combined with GH almost normalized the thyroid function tests and improved both longitudinal bone growth and maturation. Conclusions: In the growth plate, GH may compensate for decreased local T 3 effects on longitudinal bone growth; however, GH does not appear to compensate for the effects of T 3 on bone maturation. We believe that the present case has important implications for understanding the mechanism of thyroid hormone and GH on longitudinal bone growth and maturation.

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  • Patients with SBP2 mutations have reduced levels of most selenoproteins and a multi-symptom disorder.

    “Patients with mutations in the SBP2 gene have been identified who have reduced amounts of most selenoproteins and displayed a multiple-symptom disorder [69, 70, 71, 72].”

    From Ferroptosis: Death by Lipid Peroxidation (2016) · cites this paper as [72]

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Authors
Hamajima, T., Mushimoto, Y., Kobayashi, H., Saito, Y., & Onigata, K.
Affiliations
  • Aichi Children's Health and Medical Center (JP)
  • Shimane University (JP)
  • Doshisha University (JP)
ORCID
Venue
European Journal of Endocrinology
Publisher
Oxford University Press (OUP)
Published
2012-04
Volume
166
Issue
4
Pages
757-764
ISSN
  • 0804-4643 (ISSN-L)
  • 1479-683X
DOI
10.1530/eje-11-0812
OpenAlex
W2101305186
Cited by
71
References
29
Citations by year
2026: 4 · 2025: 6 · 2024: 3 · 2023: 3 · 2022: 2 · 2021: 4 · 2020: 4 · 2019: 6 · 2018: 6 · 2017: 4 · 2016: 8 · 2015: 10 · 2014: 4 · 2013: 2 · 2012: 3
FWCI
4.87
Type
journal article
Language
en
Open access
closed
Locations
  • European Journal of Endocrinology (publishedVersion)
  • PubMed (publishedVersion)
Funders
Japan Society for the Promotion of Science (22790983)
Topics
  • Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Growth Hormone and Insulin-like Growth Factors
  • Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Thyroid Disorders and Treatments
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords
SBP2, compound heterozygosity, short stature, growth hormone therapy, triiodothyronine, thyroid hormones, longitudinal bone growth, bone age, thyroid function
MeSH terms
Age Determination by Skeleton, Bone Development, Calcification, Physiologic, Child, Preschool, Growth Disorders, Heterozygote, Humans, Male, Mutation, Pedigree, Thyroid Function Tests, Triiodothyronine, RNA-Binding Proteins, Human Growth Hormone

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