[Kallmann syndrome. Fundamentals and two medical histories]. / Kallmann-Syndrom. Pathophysiologische Grundlagen und Darstellung zweier Patientengeschichten.

ABSTRACT

Kallmann syndrome is defined as a combination of isolated hypogonadotropic hypogonadism (IHH), hyposmia or anosmia and several optional neurological or anatomical particularities. The genetically caused illness affects mechanisms of neuronal migration, first of all concerning GnRH-producing neurons and those of the olfactory bulb.The first, nowadays rather seldom case, serves as an example of a patient suffering from grave, especially somatic symptoms of the disease. IHH, anosmia, eunuchoidism (physique, puerile voice, gynecomastia, micropenis, missing secondary sex characteristics) and distinct osteoporosis were verified.With the case of the second patient, late psychosexual sequelae of the syndrome are elucidated. The patient had been treated with testosterone after contracting mumps orchitis in early childhood. The physical development of the second patient progressed well since initiation of hormone substitution; however, infertility was still present. Now he complains of symptoms of depression caused by the separation from his female partner. Intermittent disorders of sexual functions and difficulties in establishing a male sexual identity lowered his self-esteem. Diagnostic and therapeutic capabilities and limits are particularized and items of future concern are emphasized.