KLINEFELTER SYNDROME

Course overview

KLINEFELTER SYNDROME (KS) RESULTS FROM 2 OR MORE X CHROMOSOMES IN A PHENOTYPIC MALE. THE CLINICAL PHENOTYPE OF KS WAS FIRST DESCRIBED IN MALES WITH TALL STATURE, SMALL TESTES, GYNECOMASTIA, AND AZOOSPERMIA, WITH THE GENETIC ETIOLOGY OF SUPERNUMERARY X CHROMOSOMES IDENTIFIED IN 1959. EXTRA X CHROMOSOMES LEAD TO TESTICULAR HYALINIZATION, FIBROSIS, AND TESTICULAR HYPOFUNCTION, RESULTING IN GENITAL ABNORMALITIES, USUALLY HYPOGONADISM, AND INFERTILITY. NEUROCOGNITIVE DIFFERENCES ASSOCIATED WITH KS BEGAN TO BE RECOGNIZED IN THE MIDDLE AND LATTER OF THE 20TH CENTURY. OFTEN, ANDROGEN REPLACEMENT AND NEUROPSYCHOLOGICAL AND ADAPTIVE THERAPIES ARE BENEFICIAL IN THE MEDICAL MANAGEMENT OF KS. HOWEVER, DEFICITS IN CLINICAL CARE DO EXIST AS THERE ARE GAPS OR DELAYS IN DIAGNOSIS, LACK OF STANDARDIZATION OF CARE, AND ACCESS TO TREATMENT IS NOT ALWAYS AVAILABLE OR AFFORDABLE. THIS ACTIVITY REVIEWS THE EVALUATION AND TREATMENT OF KLINEFELTER SYNDROME AND THE ROLE OF THE INTERPROFESSIONAL TEAM IN MANAGING THIS CONDITION.