Case Reports and Reviews: Open Access

Abstract 

Klinefelter Syndrome (KS) is reported to be the most common sex chromosome disorder in the males. It has an incidence of 150/100,000 males. The basic pathology is the presence of an extra X-chromosome in a male. The supernumerary Xchromosome could be from either the father or mother of the male patient. The genetic material in the supernumerary chromosome often is inactivated and no phenotypic changes are seen in the male. In some patients, failure of inactivation of the genes in the extra X-chromosome results in development of Klinefelter Syndrome. The phenotypic hallmark of KS is the presence in a male of a female body habitus, gynaecomastia, tall stature, small and hypoplastic testes, hypergonadotrophic hypogonadism and cognitive impairment. Most cases go unnoticed till the patient present with primary infertility. Prenatal diagnosis is possible or even a Pre-Implantation Genetic Diagnosis (PGD) of embryos obtained from invitro-fertilisation. KS is associated with high morbidity related to hypogonadism. These include Metabolic syndrome, type 2 diabetes, infertility and associated psychiatric disorders. Cognitive impairment is mainly a speech difficulty that may require speech therapy. Medical treatment in form of hormone replacement therapy(testosterone), assisted reproductive therapy and management of associated morbidities are the mainstay of treatment. The increased morbidity associated with KS is said to reduce life span by 2-years in affected patients, the risk may be higher in African countries with delayed diagnosis and poorly equipped health care system. Literature review did not yield a report of KS in one of identical twins with a phenotypically and genetically normal sibling. We report our experience of managing one. 

Keywords: Klinefelter, Identical twin, Africa.