Tomita H, Sogawa H, Watanabe A
Tohoku J Exp Med. 1982 Apr;136(4):413-8. doi: 10.1620/tjem.136.413.
A male infant with secondary hypothyroidism is described. Within the first month after birth, the patient manifested feeding difficulties, lethargy, persistent jaundice, umbilical hernia, and large anterior and open posterior fontanels. The roentgenogram of the knee joints at 27 days showed absence of the distal femoral epiphyses. His serum thyroid-stimulating hormone (TSH) level was low despite decreased levels of triiodothyronine (T3) and tetraiodothyronine (T4) in serum. Assessment of the hypothalamic-pituitary hormone (TRH) nor growth hormone (GH) responses to L-arginine and insulin, while responses of both luteinizing hormone (LH) and follicle-stimulating hormone (FSH) to luteinizing hormone-releasing hormone (LH-RH) and adrenocorticotropic hormone (ACTH) to insulin were within normal limits. The malady of the patient in this case was not detected by newborn screening for congenital hypothyroidism due to the fact that in the Aomori district of Japan thyroid screening involves only the measurement of TSH. Such measurement cannot detect cases of secondary or tertiary hypothyroidism such as our patient. Replacement therapy was initiated at 58 days and his physical and mental development has been regarded as normal since treatment.
本文描述了一名患有继发性甲状腺功能减退症的男婴。出生后的第一个月内，该患者出现喂养困难、嗜睡、持续性黄疸、脐疝以及前囟大且后囟未闭。出生27天时膝关节的X线片显示股骨远端骨骺未出现。尽管血清中三碘甲状腺原氨酸（T3）和甲状腺素（T4）水平降低，但他的血清促甲状腺激素（TSH）水平较低。对下丘脑 - 垂体激素（TRH）以及生长激素（GH）对L - 精氨酸和胰岛素的反应进行评估，同时促黄体生成素（LH）和促卵泡生成素（FSH）对促黄体生成素释放激素（LH - RH）的反应以及促肾上腺皮质激素（ACTH）对胰岛素的反应均在正常范围内。由于日本青森地区的甲状腺筛查仅涉及TSH的测量，因此该患者的病症在先天性甲状腺功能减退症的新生儿筛查中未被检测到。这种测量无法检测到像我们患者这样的继发性或三发性甲状腺功能减退症病例。在58天时开始进行替代治疗，自治疗以来他的身体和智力发育被认为是正常的。
