The spectrum of thyroid abnormalities in individuals with 18q deletions

Rebecca L. Schaub, Daniel E. Hale, Susan R. Rose, Robin J. Leach, Jannine D. Cody

Research output: Contribution to journalReview article

12 Citations (Scopus)

Abstract

Chromosome 18q deletions (18q-) are survivable autosomal deletions, having an estimated incidence of one in 40,000 live births. Our long-term goals were to 1) comprehensively define the endocrine phenotype, 2) determine the natural history, and 3) identify key genes leading to particular phenotypes. This report specifically emphasizes the thyroid phenotype. Medical record review and comprehensive clinical assessment(s) were performed on 120 individuals with 18q- at the Chromosome 18 Clinical Research Center, the largest group of individuals with 18q- ever assembled. Affected subjects ranged in age from 6 wk to 32 yr at initial assessment. Due to case reports of thyroid dysfunction in 18q deletions and the well-established association between hypothyroidism and aneusomies, we undertook thyroid testing in all individuals and completed TRH studies on 50 of them. Our studies demonstrated that 12% had hypothyroidism, and the results were consistent with primary thyroidal dysfunction. Furthermore, two individuals progressed from normal to abnormal over the course of 2 yr. Based on these studies, it appears that, as is the case in other aneusomies, annual thyroid testing, using TSH as a primary screening tool, is indicated. The mechanism of the hypothyroidism is not yet known, and the genetic basis has not been delineated.

Original languageEnglish (US)
Pages (from-to)2259-2263
Number of pages5
JournalJournal of Clinical Endocrinology and Metabolism
Volume90
Issue number4
DOIs
StatePublished - Apr 1 2005

Fingerprint

Chromosomes
Thyroid Gland
Hypothyroidism
Testing
Phenotype
Screening
Genes
Chromosomes, Human, Pair 18
Chromosome Deletion
Live Birth
Natural History
Medical Records
Incidence
Research

All Science Journal Classification (ASJC) codes

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Endocrinology
  • Clinical Biochemistry
  • Biochemistry, medical

Cite this

Schaub, Rebecca L. ; Hale, Daniel E. ; Rose, Susan R. ; Leach, Robin J. ; Cody, Jannine D. / The spectrum of thyroid abnormalities in individuals with 18q deletions. In: Journal of Clinical Endocrinology and Metabolism. 2005 ; Vol. 90, No. 4. pp. 2259-2263.
@article{ea6e836e7ea043059d011e61aa14fb20,
title = "The spectrum of thyroid abnormalities in individuals with 18q deletions",
abstract = "Chromosome 18q deletions (18q-) are survivable autosomal deletions, having an estimated incidence of one in 40,000 live births. Our long-term goals were to 1) comprehensively define the endocrine phenotype, 2) determine the natural history, and 3) identify key genes leading to particular phenotypes. This report specifically emphasizes the thyroid phenotype. Medical record review and comprehensive clinical assessment(s) were performed on 120 individuals with 18q- at the Chromosome 18 Clinical Research Center, the largest group of individuals with 18q- ever assembled. Affected subjects ranged in age from 6 wk to 32 yr at initial assessment. Due to case reports of thyroid dysfunction in 18q deletions and the well-established association between hypothyroidism and aneusomies, we undertook thyroid testing in all individuals and completed TRH studies on 50 of them. Our studies demonstrated that 12{\%} had hypothyroidism, and the results were consistent with primary thyroidal dysfunction. Furthermore, two individuals progressed from normal to abnormal over the course of 2 yr. Based on these studies, it appears that, as is the case in other aneusomies, annual thyroid testing, using TSH as a primary screening tool, is indicated. The mechanism of the hypothyroidism is not yet known, and the genetic basis has not been delineated.",
author = "Schaub, {Rebecca L.} and Hale, {Daniel E.} and Rose, {Susan R.} and Leach, {Robin J.} and Cody, {Jannine D.}",
year = "2005",
month = "4",
day = "1",
doi = "10.1210/jc.2004-1630",
language = "English (US)",
volume = "90",
pages = "2259--2263",
journal = "Journal of Clinical Endocrinology and Metabolism",
issn = "0021-972X",
publisher = "The Endocrine Society",
number = "4",

}

The spectrum of thyroid abnormalities in individuals with 18q deletions. / Schaub, Rebecca L.; Hale, Daniel E.; Rose, Susan R.; Leach, Robin J.; Cody, Jannine D.

In: Journal of Clinical Endocrinology and Metabolism, Vol. 90, No. 4, 01.04.2005, p. 2259-2263.

Research output: Contribution to journalReview article

TY - JOUR

T1 - The spectrum of thyroid abnormalities in individuals with 18q deletions

AU - Schaub, Rebecca L.

AU - Hale, Daniel E.

AU - Rose, Susan R.

AU - Leach, Robin J.

AU - Cody, Jannine D.

PY - 2005/4/1

Y1 - 2005/4/1

N2 - Chromosome 18q deletions (18q-) are survivable autosomal deletions, having an estimated incidence of one in 40,000 live births. Our long-term goals were to 1) comprehensively define the endocrine phenotype, 2) determine the natural history, and 3) identify key genes leading to particular phenotypes. This report specifically emphasizes the thyroid phenotype. Medical record review and comprehensive clinical assessment(s) were performed on 120 individuals with 18q- at the Chromosome 18 Clinical Research Center, the largest group of individuals with 18q- ever assembled. Affected subjects ranged in age from 6 wk to 32 yr at initial assessment. Due to case reports of thyroid dysfunction in 18q deletions and the well-established association between hypothyroidism and aneusomies, we undertook thyroid testing in all individuals and completed TRH studies on 50 of them. Our studies demonstrated that 12% had hypothyroidism, and the results were consistent with primary thyroidal dysfunction. Furthermore, two individuals progressed from normal to abnormal over the course of 2 yr. Based on these studies, it appears that, as is the case in other aneusomies, annual thyroid testing, using TSH as a primary screening tool, is indicated. The mechanism of the hypothyroidism is not yet known, and the genetic basis has not been delineated.

AB - Chromosome 18q deletions (18q-) are survivable autosomal deletions, having an estimated incidence of one in 40,000 live births. Our long-term goals were to 1) comprehensively define the endocrine phenotype, 2) determine the natural history, and 3) identify key genes leading to particular phenotypes. This report specifically emphasizes the thyroid phenotype. Medical record review and comprehensive clinical assessment(s) were performed on 120 individuals with 18q- at the Chromosome 18 Clinical Research Center, the largest group of individuals with 18q- ever assembled. Affected subjects ranged in age from 6 wk to 32 yr at initial assessment. Due to case reports of thyroid dysfunction in 18q deletions and the well-established association between hypothyroidism and aneusomies, we undertook thyroid testing in all individuals and completed TRH studies on 50 of them. Our studies demonstrated that 12% had hypothyroidism, and the results were consistent with primary thyroidal dysfunction. Furthermore, two individuals progressed from normal to abnormal over the course of 2 yr. Based on these studies, it appears that, as is the case in other aneusomies, annual thyroid testing, using TSH as a primary screening tool, is indicated. The mechanism of the hypothyroidism is not yet known, and the genetic basis has not been delineated.

UR - http://www.scopus.com/inward/record.url?scp=17844394171&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=17844394171&partnerID=8YFLogxK

U2 - 10.1210/jc.2004-1630

DO - 10.1210/jc.2004-1630

M3 - Review article

C2 - 15671099

AN - SCOPUS:17844394171

VL - 90

SP - 2259

EP - 2263

JO - Journal of Clinical Endocrinology and Metabolism

JF - Journal of Clinical Endocrinology and Metabolism

SN - 0021-972X

IS - 4

ER -