Brachytelephalangy, characteristic facies, Kallmann: A very rare syndrome characterized primarily by very short end bones of fingers and facial anomalies.
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A congenital deficiency in gonadotropin secretion, caused by reduced production of hypothalamic GnRH, is responsible for hypogonadism in Kallmann syndrome. This deficiency ranges from partial to severe. In partial forms, a degree of sexual development occurs, resulting in patients known as “fertile eunuchs.” In more severe forms, levels of luteinizing and follicle-stimulating hormones are low; sexual maturation is absent.