KALLMANN SYNDROME

Course overview

KALLMANN SYNDROME (KS) IS A CONGENITAL HYPOGONADOTROPIC HYPOGONADISM (HH) HYPOGONADISM (HH) THAT MANIFESTS WITH HYPO- OR ANOSMIA. THIS DECREASE IN GONADAL FUNCTION IS DUE TO A FAILURE IN THE DIFFERENTIATION OR MIGRATION OF NEURONS THAT ARISE EMBRYOLOGICALLY IN THE OLFACTORY MUCOSA TO TAKE UP RESIDENCE IN THE HYPOTHALAMUS SERVING AS GONADOTROPIN-RELEASING HORMONE (GNRH) NEURONS. A DEFICIT IN THE GNRH HORMONE RESULTS IN DECREASED LEVELS OF SEX STEROIDS LEADING TO A LACK OF SEXUAL MATURITY AND THE ABSENCE OF SECONDARY SEXUAL CHARACTERISTICS. TYPICAL DIAGNOSIS OCCURS WHEN A CHILD FAILS TO BEGIN PUBERTY. THE CONDITION, FIRST DESCRIBED IN 1944, IS A RARE PEDIATRIC GENETIC DISEASE ESTIMATED TO AFFECT 1 IN 48,000 INDIVIDUALS. TREATMENT INVOLVES LIFE-LONG HORMONE REPLACEMENT THERAPY. HOWEVER, TREATMENT FOR MALE INFANTS MAY INCLUDE EARLY HORMONE TREATMENT OR SURGERY TO CORRECT UNDESCENDED TESTICLES. UNFORTUNATELY, LATER IN LIFE, THESE PATIENTS HAVE AN INCREASED RISK FOR DEVELOPING OSTEOPOROSIS DUE TO THEIR DECREASED SEX HORMONES PRODUCTION AND ARE OFTEN PRESCRIBED VITAMIN D SUPPLEMENTATION AND BISPHOSPHONATES. THIS ACTIVITY REVIEWS THE EVALUATION AND TREATMENT OF KALLMANN SYNDROME AND DISCUSSES THE ROLE OF THE INTERPROFESSIONAL TEAM IN EVALUATING AND TREATING PATIENTS WITH THIS CONDITION.