Assistance Publique-Hôpitaux de Paris, Robert Debré University Hospital, Pediatric Endocrinology-Diabetology Department, Reference Center for Growth and Development Endocrine Diseases, Paris, France.
Université de Paris; NeuroDiderot, Institut National de la Santé et de la Recherche Médicale (INSERM), Paris, France.
J Clin Endocrinol Metab. 2022 Feb 17;107(3):836-846. doi: 10.1210/clinem/dgab747.
Fetal and neonatal dysfunctions include rare serious disorders involving abnormal thyroid function during the second half of gestation, which may persist throughout life, as for most congenital thyroid disorders, or be transient, resolving in the first few weeks of life, as in autoimmune hyperthyroidism or hypothyroidism and some cases of congenital hypothyroidism (CH) with the thyroid gland in situ. Primary CH is diagnosed by neonatal screening, which has been implemented for 40 years in developed countries and should be introduced worldwide, as early treatment prevents irreversible neurodevelopmental delay. Central CH is a rarer entity occurring mostly in association with multiple pituitary hormone deficiencies. Other rare disorders impair the action of thyroid hormones. Neonatal Graves' disease (GD) results from the passage of thyrotropin receptor antibodies (TRAbs) across the placenta, from mother to fetus. It may affect the fetuses and neonates of mothers with a history of current or past GD, but hyperthyroidism develops only in those with high levels of stimulatory TRAb activity. The presence of antibodies predominantly blocking thyroid-stimulating hormone receptors may result in transient hypothyroidism, possibly followed by neonatal hyperthyroidism, depending on the balance between the antibodies present. Antithyroid drugs taken by the mother cross the placenta, treating potential fetal hyperthyroidism, but they may also cause transient fetal and neonatal hypothyroidism. Early diagnosis and treatment are key to optimizing the child's prognosis. This review focuses on the diagnosis and management of these patients during the fetal and neonatal periods. It includes the description of a case of fetal and neonatal autoimmune hyperthyroidism.
胎儿和新生儿功能障碍包括罕见的严重疾病，涉及妊娠后半期甲状腺功能异常，这些异常可能持续终生，如大多数先天性甲状腺疾病，也可能是短暂的，在生命的头几周内消退，如自身免疫性甲状腺功能亢进或甲状腺功能减退以及一些原位甲状腺先天性甲状腺功能减退症（CH）病例。原发性 CH 通过新生儿筛查诊断，该筛查在发达国家已实施 40 年，应该在全球范围内推广，因为早期治疗可预防不可逆转的神经发育迟缓。中枢性 CH 是一种更为罕见的疾病，主要与多种垂体激素缺乏有关。其他罕见疾病会影响甲状腺激素的作用。新生儿 Graves 病（GD）是由于促甲状腺激素受体抗体（TRAb）穿过胎盘从母亲转移到胎儿而引起的。它可能会影响有当前或过去 GD 病史的母亲的胎儿和新生儿，但只有在具有高刺激 TRAb 活性的情况下才会发生甲状腺功能亢进。存在主要阻断甲状腺刺激激素受体的抗体可能导致短暂性甲状腺功能减退，可能随后出现新生儿甲状腺功能亢进，具体取决于存在的抗体之间的平衡。母亲服用的抗甲状腺药物穿过胎盘，治疗潜在的胎儿甲状腺功能亢进，但也可能导致胎儿和新生儿短暂性甲状腺功能减退。早期诊断和治疗是优化儿童预后的关键。本综述重点介绍了胎儿和新生儿期这些患者的诊断和管理。它包括一例胎儿和新生儿自身免疫性甲状腺功能亢进的病例描述。
