CLINICAL-EVALUATION IN ISOLATED HYPOGONADOTROPIC HYPOGONADISM (KALLMANN-SYNDROME)

Objective: To describe the clinical features, laboratory investigation and treatment of Kallmann syndrome. Design: A retrospective study of patients treated in the Endocrine Clinic of the Royal Children's Hospi tal and St Vincent's Hospital, Melbourne, between 1984 and 1996. Resul ts: Eleven males and 5 females with Kallmann syndrome are described. T heir ages at presentation ranged from one week to 21 years. Presenting symptoms were micropenis, small testes, anosmia and delayed puberty. Fifty-six percent (9/16) had a family history of either anosmia or inf ertility. The features of Kallmann syndrome are variable. We have desc ribed unilateral renal aplasia, coloboma of iris, deafness, midline an omalies, oculomotor apraxia and Moebius anomalad as features that were associated with Kallmann syndrome in our group of subjects. One patie nt diagnosed as having X-linked Kallmann syndrome has previously been shown to have a specific mutation in an intronic sequence adjacent to exon 6. Most patients showed low serum levels of basal gonadotrophins, testosterone or oestrogen, and had a poor response to LHRH stimulatio n, but two patients showed a pubertal response to LHRH stimulation, an d may have a variant form of Kallmann syndrome. Treatment given to the se patients included exogenous testosterone or oestrogen for induction of puberty, with appropriate pubertal progress occurring in each pati ent. Conclusion: The manifestations of Kallmann syndrome vary, dependi ng upon the degree of LHRH deficiency. Therapy should combine exogenon s sex hormone replacement and psychological support, with long-term fo llow-up to ensure maintenance of normal sexual function, normal bone m ass and psychosocial outcome, with fertility induction when indicated.