Vertical transmission of hypopituitarism: critical importance of appropriate interpretation of thyroid function tests and levothyroxine therapy during pregnancy.
Vertical transmission of hypopituitarism: critical importance of appropriate interpretation of thyroid function tests and levothyroxine therapy during pregnancy.
复制标题
垂体功能减退症的垂直传播：妊娠期间甲状腺功能测试和左甲状腺素治疗的适当解释至关重要。
DOI：
10.1089/thy.2012.0332
复制
发表时间：
2013
期刊：
影响因子：
--
通讯作者：
Radovick,Sally
中科院分区：
文献类型：
--
作者：
Pine-Twaddell,Elyse;Romero,ChristopherJ;Radovick,Sally
背景：通常，先天性甲状腺功能减退的新生儿在出生时无症状，暴露于甲状腺功能正常的母亲。然而，垂体功能减退可能与中枢性甲状腺功能减退、保留生育能力和常染色体显性遗传有关，因此需要在妊娠期间增加对甲状腺管理的关注。患者发现：一名有生长激素缺乏和中枢性甲状腺功能减退病史的妇女生下了一名足月男婴，与胎龄相符。由于在妊娠中期低促甲状腺激素（TSH），左旋甲状腺素剂量由产科医生减少，游离T4在整个妊娠后半期低。新生儿实验室检查显示中枢性甲状腺功能减退，T4低2.1 μg/dL (4.5 ~ 11.5)， TSH异常正常0.98 uIU/mL (0.5 ~ 4.5)；未检测到生长激素、IGF-I和IGFBP3；正常的皮质醇水平；正常的促性腺激素激增。在第一周开始左旋甲状腺素治疗后，饲粮强度和摄食耐受性均有所改善。然而，患者被发现有听力损失、大运动迟缓和语言迟缓。摘要：在本报告中，我们回顾了一个垂直传播显性阴性pou1f1突变的病例，在该病例中，由于妊娠期间甲状腺功能低下状态导致的胎儿异常可能因妊娠早期低TSH导致的母亲左旋甲状腺素剂量减少而加剧。母亲和胎儿都不能合成足够的甲状腺激素，这可能是导致患者临床表现的原因。结论：本病例强调了处理女性垂体功能减退症的几个要点。首先，重要的是患者和临床医生都意识到原发性和中枢性甲状腺功能减退症的病因差异，以及适当的筛查和治疗。其次，妊娠期间应密切监测甲状腺激素状态，预防母体甲状腺功能减退症的胎儿后遗症。第三，对合并垂体激素缺乏症患者进行遗传筛查是必要的，因此产前遗传咨询可能是准父母的一种选择。
Background:Typically, newborns with congenital hypothyroidism are asymptomatic at birth, having been exposed to euthyroid mothers. However, hypopituitarism may be associated with central hypothyroidism, preserved fertility, and autosomal dominant inheritance, requiring increased attention to thyroid management during pregnancy.Patient Findings:A woman with a history of growth hormone deficiency and central hypothyroidism gave birth to a term male neonate appropriate for gestational age. Due to low thyrotropin (TSH) in the second trimester, the levothyroxine dose was decreased by the obstetrician, and free T4 was low throughout the latter half of pregnancy. The neonatal laboratory evaluation showed central hypothyroidism with a low T4 of 2.1 μg/dL (4.5–11.5) and an inappropriately normal TSH of 0.98 uIU/mL (0.5–4.5); undetectable growth hormone, IGF-I, and IGFBP3; a normal cortisol level; and a normal gonadotropin surge. After initiation of levothyroxine in the first week, both tone and feeding tolerance improved. However, the patient was found to have hearing loss, gross motor delay, and speech delay.Summary:In this report, we review a case of vertical transmission of a dominant negativePOU1F1mutation in which fetal abnormalities due to the hypothyroxinemic state during gestation may have been exacerbated by a decrease in the mother's levothyroxine dose based on a low TSH in early gestation. Both mother and fetus were unable to synthesize sufficient thyroid hormone, which may be responsible for the patient's clinical presentation.Conclusion:This case underscores several important points in the management of women with hypopituitarism. First, it is important that patients and clinicians are both aware of the differences in etiology, as well as appropriate screening and treatment, of primary versus central hypothyroidism. Second, it is necessary to monitor the thyroid hormone status closely during pregnancy to prevent fetal sequelae of maternal hypothyroidism. Third, genetic screening of patients with combined pituitary hormone deficiency is necessary, so that prenatal genetic counseling may be an option for expecting parents.