Dunger D B, Lightman S, Williams M, Preece M A, Grant D B
Clin Endocrinol (Oxf). 1985 Apr;22(4):469-78. doi: 10.1111/j.1365-2265.1985.tb00146.x.
Two unrelated boys (C.C. 13 years; J.W. 18 years) presenting with early puberty and episodes of aggressive behaviour were found to have hypernatraemia and hypodipsia. Plasma vasopressin (AVP) levels were inappropriately low in relation to plasma osmolality, but the patients did not have diabetes insipidus since 24 h urinary volumes were less than 1 litre and the maximal urinary osmolality was 1232 in C.C. and 950 in J.W. Plasma renin activity was elevated (greater than 2000 mg AI/1/h) although aldosterone concentrations were normal. Excretion of a water load (20 ml/kg) was delayed, but plasma renin and aldosterone fell with increased naturesis. An infusion of 0.85 mol/l saline produced a rise in AVP in C.C. but not in J.W. Insulin and hypotension resulted in the release of AVP in both boys suggesting a selective defect of osmoreceptor function. Hyperprolactinaemia and an exaggerated PRL response to TRH were also noted but no intracranial lesion was demonstrable on CT scan. These boys appear to have a hypothalamic syndrome with early puberty, hyperprolactinaemia, hypodipsia and osmoreceptor dysfunction which may be associated with aggressive behaviour.
两名无血缘关系的男孩(C.C.,13岁;J.W.,18岁)表现为青春期早熟和攻击性行为发作,被发现患有高钠血症和低渗性多尿症。相对于血浆渗透压,血浆血管加压素(AVP)水平不适当降低,但患者并无尿崩症,因为24小时尿量少于1升,C.C.的最大尿渗透压为1232,J.W.为950。血浆肾素活性升高(大于2000mg AI/1/h),尽管醛固酮浓度正常。水负荷(20ml/kg)的排泄延迟,但随着利尿增加,血浆肾素和醛固酮水平下降。静脉输注0.85mol/l生理盐水使C.C.的AVP升高,但J.W.未升高。胰岛素和低血压导致两名男孩均释放AVP,提示存在渗透压感受器功能的选择性缺陷。还发现有高催乳素血症以及对促甲状腺激素释放激素(TRH)的催乳素反应过度,但CT扫描未显示颅内病变。这些男孩似乎患有下丘脑综合征,伴有青春期早熟、高催乳素血症、低渗性多尿症和渗透压感受器功能障碍,可能与攻击性行为有关。