Objective: 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.
Methods: 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.
Results: 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.
Conclusion: 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.