Jonklaas Jacqueline
Division of Endocrinology, Georgetown University Medical Center, Washinton, DC 20007, USA.
Endocr Pract. 2005 Jan-Feb;11(1):30-6. doi: 10.4158/EP.11.1.30.
To describe an unusual presentation of a patient with Kallmann syndrome, without the typical eunuchoid features, who had additional hormonal abnormalities caused by a craniopharyngioma.
This patient's clinical features, endocrine evaluation, and treatment are described, and the literature regarding Kallmann syndrome is reviewed. The expected phenotype of Kallmann syndrome is contrasted with this case presentation. A literature search was also performed to determine whether the combination of craniopharyngioma and Kallmann syndrome had been described previously.
A 23-year-old man had a suprasellar tumor in conjunction with hypogonadotropic hypogonadism and growth hormone deficiency. Subsequently, he was also noted to have anosmia, a cleft palate, and bilateral olfactory bulb hypoplasia. His height was less than his calculated midparental height and exceeded his arm span. Defective neuronal migration in Kallmann syndrome is caused by absence of adhesion proteins needed for cellular, neuronal, and axonal guidance. This results in failure of olfactory and gonadotropin-releasing hormone neurons to complete normal migration. Defective migration can also cause midline craniofacial abnormalities, renal agenesis, and cardiovascular defects. Arachnoid cysts have been reported in two patients with Kallmann syndrome, although whether a migration defect underlies their occurrence is speculative. No prior reports of craniopharyngioma in a patient with Kallmann syndrome could be identified.
It is postulated that although this patient had Kallmann syndrome, he did not present with a eunuchoid body habitus because of concomitant growth hormone deficiency caused by his craniopharyngioma. Although midline craniofacial abnormalities have been seen in patients with Kallmann syndrome, this patient's craniopharyngioma seems more likely to be coincidental, rather than being one of the developmental anomalies that are part of the spectrum of this syndrome.
描述一名患有卡尔曼综合征（Kallmann syndrome）的患者的不寻常表现，该患者没有典型的类无睾症特征，且因颅咽管瘤导致了额外的激素异常。
描述了该患者的临床特征、内分泌评估及治疗情况，并对有关卡尔曼综合征的文献进行了综述。将卡尔曼综合征的预期表型与该病例表现进行了对比。还进行了文献检索，以确定此前是否有颅咽管瘤与卡尔曼综合征并存的相关描述。
一名23岁男性患有鞍上肿瘤，同时伴有低促性腺激素性性腺功能减退和生长激素缺乏。随后，还发现他存在嗅觉缺失、腭裂和双侧嗅球发育不全。他的身高低于根据其父母身高计算出的中位数身高，且超过了其臂展。卡尔曼综合征中神经元迁移缺陷是由于缺乏细胞、神经元和轴突导向所需的黏附蛋白所致。这导致嗅觉和促性腺激素释放激素神经元无法完成正常迁移。迁移缺陷还可导致中线颅面异常、肾发育不全和心血管缺陷。有两名卡尔曼综合征患者报告有蛛网膜囊肿，但其发生是否基于迁移缺陷尚属推测。未发现此前有卡尔曼综合征患者合并颅咽管瘤的报告。
据推测，尽管该患者患有卡尔曼综合征，但由于其颅咽管瘤导致的生长激素缺乏，他并未表现出类无睾体型。虽然卡尔曼综合征患者可见中线颅面异常，但该患者的颅咽管瘤似乎更可能是巧合，而非该综合征谱系中发育异常的一部分。
