Approach to the Patient With Congenital Hypothyroidism

Abstract

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.

Personalized Management of Malignant and Non-Malignant Ectopic Mediastinal Thyroid: A Proposed 10-Item Algorithm Approach

“…The associated (iatrogenic) hypothyroidism via thyroxine replacement is cor in benign thyroid disease, too. Of note, levothyroxine-based TSH suppression therapy instead of surgery f nign EMTs in euthyroid patients [102] was not successful, and they are no 131 iodine whole body scintigraphy sodium iodide Wang [65] 2011 M 49…”

“…Thyrosine kinase inhibitors were proposed for metastatic, aggressive thyroid [61]. 131 iodine scintigraphy: normal cervical thyroid + EMT Cancers 2024, 16, x FOR PEER REVIEW and thymectomy in a patient with a prior history of t cancer [123]; left hemi-thyroidectomy and isthmectom partial sternotomy and total thyroidectomy associate tomy via mediastinal and cervical exploration [115].…”

“…The associated (iatrogenic) hypothyroidism via thyroxine replacement is cor in benign thyroid disease, too. Of note, levothyroxine-based TSH suppression therapy instead of surgery f nign EMTs in euthyroid patients [102] was not successful, and they are no encouraged according to the modern endocrine perspective (as similarly se 131 iodine scintigraphy: EMT Cancers 2024, 16, x FOR PEER REVIEW and thymectomy in a patient with a prior history of t cancer [123]; left hemi-thyroidectomy and isthmectom partial sternotomy and total thyroidectomy associate tomy via mediastinal and cervical exploration [115].…”

“…There are current gaps in EMT management, making it a matter of person approach: a low index of suspicion; no specific criteria for providing biopsy and/or whole body scintigraphy with 131 iodine with SPECT-CT showed EMT tomy via mediastinal and cervical exploration [115].…”

Diagnosis and treatment of congenital hypothyroidism

“…CH는 출생 당시부터 TH의 생성 부족으로 인한 질환으 로 원인에 따라 (1) 일차성(primary)은 갑상샘 자체의 문 제, (2) 중추성(central)은 시상하부-뇌하수체-갑상샘 축 (hypothalamus-pituitary-thyroid, HPT axis)의 문제, (3) 말초성(peripheral)은 TH의 대사, 작용, 운반과 관련된 문제 로 분류할 수 있다 [2]. 또한 영구적(permanent) 또는 일과성 (transient) CH로 나누기도 하며, 다른 선천 이상과 동반되 었는지 여부에 따라 isolated 또는 syndromic으로 구분되기 도 한다 [3].…”