Calzada L D, Chaussain J L, Job J C
Arch Fr Pediatr. 1978 Feb;35(2):144-50.
Among 135 consecutive cases of hypopituitary dwarfism, 42 related to detectable intracranial tumour or defect. In 13 cases the tumour had been previously operated and/or irradiated. In 29 others the defect was suggested by neurological abnormalities or headache, skull radiographs, ocular examination or by associated post-hypophyseal deficiency and was demonstrated by pneumoencephalography. When none of these associated abnormalities was found, pneumoencephalography failed to demonstrate any intracranial lesion. Among the 93 so-called idiopathic cases there was a large majority of males (60/93) with a history of birth difficulties (34/60) and especially of breech delivery (23/60). TSH, FSH/LH and ACTH deficiencies were associated to GH deficiency in 81% of patients with detectable intracranial lesions, 57% of male and 39% of female idiopathic cases. The number of patients with idiopathic isolated GH deficiency was similar in boys and girls, suggesting in them the hypothesis of a recessive autosomic genetic defect in spite of the scarcity of familial cases. Peculiar clinical associations may contribute to the diagnosis.
在135例连续性垂体功能减退性侏儒症患者中，42例与可检测到的颅内肿瘤或缺陷有关。其中13例患者的肿瘤先前已接受手术和/或放疗。另外29例患者的缺陷由神经学异常、头痛、颅骨X线片、眼科检查或垂体后叶功能减退相关症状提示，并经气脑造影证实。若未发现这些相关异常，则气脑造影无法显示任何颅内病变。在93例所谓的特发性病例中，大部分为男性（60/93），其中有出生困难史者占多数（34/60），尤其是臀位产（23/60）。在有可检测到的颅内病变的患者中，81%存在促甲状腺激素、促卵泡激素/促黄体生成素及促肾上腺皮质激素缺乏并伴有生长激素缺乏；在男性特发性病例中，这一比例为57%，女性为39%。特发性单纯生长激素缺乏症患者在男孩和女孩中的数量相似，尽管家族性病例较少，但仍提示该病可能存在隐性常染色体遗传缺陷。特殊的临床关联有助于诊断。
