Congenital hypothyroidism (CH) is the most frequent neonatal endocrine disorder and the most common preventable cause of development delay and growth failure if diagnosed and treated early. The thyroid is the first endocrine gland to develop during embryonic life and to be recognizable in humans. Thyroid development and maturation can be divided into 2 phases: a first phase of embryogenesis and a second phase of folliculogenesis and differentiation with thyroid hormone production at the final steps. Regulation of the thyroid function requires normal development of the hypothalamic–pituitary–thyroid axis, which occurs during the embryonic and neonatal period. Defects in any of steps of thyroid development, differentiation, and regulation lead to permanent CH. Newborn screening programs, established in only one-third of countries worldwide, detect CH and are cost-effective and highly sensitive and specific. During the last decade, epidemiology of CH has changed with increased frequency of thyroid in situ in primary CH. Advances in molecular testing have expanded knowledge and understanding of thyroid development and function. However, a molecular cause is identified in only 5% of CH due to thyroid dysgenesis. The purpose of this article is to describe the clinical approach to the child with CH, focusing on diagnostic work-up and future challenges on optimizing thyroid replacement therapy and regenerative medicine. The review is written from the perspective of the case of 2 girls referred for CH after newborn screening and diagnosed with thyroid ectopy. The genetic work-up revealed novel mutations in TUBB1 gene, associated with large platelets and abnormal platelet physiology.
Context Craniopharyngioma is a benign brain tumour with frequent local recurrence or progression after treatment. Growth hormone replacement therapy (GHRT) is prescribed in children with growth hormone deficiency due to childhood-onset craniopharyngioma. Objective To evaluate whether shorter time delay of GHRT initiation after childhood-onset craniopharyngioma completion therapy increased the risk of new event (progression or recurrence). Methods Retrospective, observational, monocenter study. We compared a cohort of 71 childhood-onset craniopharyngiomas all treated with recombinant human growth hormone (rhGH). Twenty-seven patients were treated with rhGH at least 12 months after craniopharyngioma treatment (“>12 months group”) and forty-four patients before 12 months (“<12 months group”) among which twenty-nine patients were treated between 6 and 12 months (“6-12 months group”). The main outcome was the risk of tumour new event (progression of residual tumour or tumour recurrence after complete resection) after primary treatment in the “>12 months” group and in the “<12 months” or in the “6-12 months” group patients. Results In the “>12 months group”, the 2- and 5- years event-free survivals were respectively 81.5% (95% CI 61.1-91.9) and 69.4% (95% CI 47.9-83.4), as compared with 72.2% (95% CI 56.3-83.1) and 69.8% (95% CI 53.8-81.2) in the “<12 months” group. The 2- and 5- years event-free survivals were the same in the “6-12 months group” (72.4%, 95% CI 52.4-85.1). By Log-rank test, the event-free survival was not different between groups (p = 0,98 and p = 0,91). The median time for event was not statistically different. In univariate and multivariate analysis, the risk of craniopharyngioma new event was not associated with the GHRT time delay after craniopharyngioma treatment. Conclusions No association was found between GHRT time delay after childhood-onset craniopharyngioma treatment and an increased risk of recurrence or tumour progression, suggesting GH replacement therapy can be initiated 6 months after last treatment for craniopharyngiomas.
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