Das Kallmann-Syndrom – eine Form des hypogonadotropen Hypogonadismus

Abstract

Two men (aged 44 and 47 years) were admitted with the diagnosis of Kallmann's syndrome, but they had widely different symptoms. The first patient (A) suffered from significant secondary symptoms, i.e. weight gain and skeletal pain, which had caused him to seek medical assistance. The second patient (B) had been admitted because of symptoms of depression, caused by separation from his female partner.Patient A showed major somatic symptoms characteristic of the syndrome: eunuchoidism (physique, boyish voice, gynecomastia, micropenis and absent secondary sex characteristics). Further diagnostic tests revealed low testosterone concentrations (0.958 ng/ml; reference range 1.8 - 7.58 ng/ml) and low luteinizing hormone (LH) concentrations (<0.7 IU/l; reference range 0.8 - 7.6 IU/l), as well as infertility. Radiology showed marked osteoporosis, providing the indication for total hip replacement. Magnetic resonance imaging (MRI) of the skull and chromosomal analysis gave normal results. The physical development of patient B had progressed ever since hormone substitution after a suspected diagnosis of mumps orchitis in early childhood. However infertility was still present. Abnormal laboratory findings at admission: LH 0.10 IU/l (reference range 0.8 - 7.6 IU/l), follicle stimulating hormone 0.10 IU/l (reference range 1.2 - 10.1 IU/l), testosterone 10.0 ng/ml (reference range 1.8 - 7.58 ng/ml). A hypoplastic olfactory sulcus was shown by MRI, but no olfactory bulb. Mineral density of the femur was slightly diminished. Combined stimulation test of the pituitary gland revealed hypogonadotropic hypogonadism and anosmia in both patients.In patient A administration of testosterone, calcium, colecalciferol and biphosphonates improved virilization and reduced skeletal pain. Continuation of testosterone, calcium and colecalciferol treatment, psychotherapy and antidepressive medication with paroxetine were initiated in patient B. His symptoms of depression were treated successfully, but personal and sexual relationships remained difficult and had many problems.Early diagnosis of Kallmann's syndrome and symptomatic treatment with hormone replacement prevent patients from developing pernicious sequelae. However, sexual identity will be difficult even for patients treated after early diagnosis.