Kallmann's syndrome: skeletal and psychological aspects of late diagnosis.

We report a case of Kallmann's syndrome (KS) in a previously untreated 30-year-old Caucasian male, admitted to our Endocrinology Department, presenting with hypogonadotropic hypogonadism and hypoosmia, and reporting a history of rickets in early childhood and a rapid growth pattern. On admission, his main complaints were back-pain and a decreased tolerance to physical exercise. The patient gave no family history of hypogonadism or hypoosmia, and his case was assumed to be sporadic KS. On physical examination hypogonadism (micropenis, small testes, no puberty), hypoosmia and severe scoliosis, kyphosis and chest malformations were recorded. No facial hair growth was found nor past voice braking. His skeletal proportions were eunuchoidal, no mid-line defects were found. This case of KS was identified unusually late. Due to patient's anxiety that his physical appearance might change due to therapy, he was referred to a clinical psychologist who confirmed the patient's self-perception as a male. The risk of further bone malformations, progression of osteoporosis and consecutive pathological fractures were the main indications for commencing treatment. Psychological support was provided. Six months of treatment with low doses of hCG (500 IU given i.m. twice a week) had elevated his testosterone levels but they still remained below the lower values of the normal reference range for males. Additional treatment with vitamin D and calcium supplementation was continued. A certain improvement of bone density score was observed. The patient noted a marked pain relief and he willingly complied with the treatment. After six months of therapy hCG dose was increased to 2000 IU given twice a week. We conclude that even at such a late diagnosis of Kallmann's syndrome in a male who accepts his physical appearance and does not wish any treatment in this respect, hormonal therapy is necessary and should be introduced to reduce significant risk of osteoporosis and bone fractures, and also to offset slowly progressing skeletal malformations which result from the lack of epiphyseal fusion.