Contents

Chapter 1-Preface. General introduction and outline of the thesis
1.1-Screening for congenital hypothyroidism: a historic perspective
1.2-The thyroid gland; congenital hypothyroidism of thyroidal origin (CH-T)
1.3-Congenital hypothyroidism of peripheral origin (CH-P)
1.4-Congenital hypothyroidism of central origin (CH-C): disorders of the hypothalamic-pituitary system, the thyroid’s central regulatory unit
1.5-Screening for CH-C: the 1995 adaptation of the neonatal CH screening procedure in The Netherlands
1.6-Detection of CH-C; assessment of the integrity of the hypothalamic-pituitary system
1.7-Detection of an unexpected form of CH-C
1.8-Next generation newborn screening for congenital hypothyroidism?

Addendum 1-Study protocol

Chapter 2-Clinical and cost-effectiveness of the use of the T4/TBG-ratio to detect congenital hypothyroidism of thyroidal and central origin in a neonatal screening program (Lanting CI, Van Tijn DA, Loeber JG, Vulsma T, De Vijlder JJ, Verkerk PH, Pediatrics 2005;116:168-73).

Chapter 3-Neonatal detection of congenital hypothyroidism of central origin (Van Tijn DA, De Vijlder JJ, Verbeeten B, Verkerk PH, Vulsma T, Journal of Clinical Endocrinology and Metabolism 2005;90:3350-9).

Addendum 2-Next generation newborn screening for congenital hypothyroidism? (Fisher D, Journal of Clinical Endocrinology and Metabolism 2005;90:3797-9)

Addendum 3-Central congenital hypothyroidism due to gestational hyperthyroidism: detection where prevention failed (Kempers MJ, Van Tijn DA, van Trotsenburg AS, de Vijlder JJ, Wiedijk BM, Vulsma T, Journal of Clinical Endocrinology and Metabolism 2003;88:5851-7)

Chapter 4-Role of the thyrotropin-releasing hormone stimulation test in diagnosis of congenital central hypothyroidism in infants (Van Tijn DA, De Vijlder JJ, Vulsma T, Journal of Clinical Endocrinology and Metabolism 2008;93:410-9)

Addendum 4-TRH testing in its infancy (DiVall SA, Wondisford FE, Journal of Clinical Endocrinology and Metabolism 2008;93:378-9)

Chapter 5-Role of corticotropin-releasing hormone testing in assessment of hypothalamic-pituitary-adrenal axis function in infants with congenital central hypothyroidism (Van Tijn DA, De Vijlder JJ, Vulsma T, Journal of Clinical Endocrinology and Metabolism 2008;accepted for publication)

Addendum 5-Plots of CRH test results (ACTH and cortisol response curves)

Chapter 6-Early diagnosis of growth hormone/IGF-I deficiency in infants with congenital hypothyroidism of central origin: clues and pitfalls (Van Tijn DA, De Vijlder JJ, Vulsma T, In preparation)

Chapter 7-Early assessment of hypothalamic-pituitary-gonadal function in patients with congenital hypothyroidism of central origin (Van Tijn DA, Schroor EJ, Delemarre-van de Waal HA, De Vijlder JJ, Vulsma T, Journal of Clinical Endocrinology and Metabolism 2007;92:104-9).

Chapter 8-Epilogue. General Discussion
8.1-Prevalence of CH-C
8.2-Detection rate and cost-effectiveness
8.3-Perinatal morbidity of CH-C
8.4-Screening results and results of tests of hypothalamus-pituitary-thyroid axis function
8.5-Tests of hypothalamus-pituitary-thyroid axis function: distinction of type 0, type 2 and type 3 responses
8.6-Isolated TRH/TSH deficiency versus multiple pituitary hormone deficiency (MPHD)
8.7-Genetic aspects of CH-C and MPHD
8.8-Tests of hypothalamus-pituitary-thyroid axis function: effect of TRH on PRL, T3 and T4 secretion
8.9-Tests of hypothalamus-pituitary-thyroid axis function: TRH dosage
8.10-Tests of hypothalamus-pituitary-adrenocortex axis function
8.11-Tests of hypothalamus-pituitary-somatomedin axis function
8.12-Tests of hypothalamus-pituitary-gonad axis function
8.13-Tests of posterior pituitary function
8.14-Neuroimaging studies
8.15-CH-C due to inadequately treated gestational Graves’ hyperthyroidism
8.16-Final conclusions and future perspective

Chapter 9-Summary

Chapter 9a-Summary in Dutch

Acknowledgements

Curriculum vitae

Neonatal screening for hypothyroidism of central origin
David van Tijn
Verschenen: september 2008
Prijs: 24,95 euro