Introduction:Incomplete pubertal development is a common phenomenon found in patients with Klinefelter syndrome (KFS).KFS combined with central precocious puberty (CPP) rarely occurs.We herein report a rare case of KF...Introduction:Incomplete pubertal development is a common phenomenon found in patients with Klinefelter syndrome (KFS).KFS combined with central precocious puberty (CPP) rarely occurs.We herein report a rare case of KFS with CPP and review several studies to determine the possible mechanism underlying this condition.Case presentation:An 8-year,5-month-old male patient was admitted to our hospital because of enlargement of the penis and small testes.Laboratory evaluation revealed high luteinizing hormone and follicle-stimulating hormone levels,a high testosterone level,and the 48,XXYY karyotype.He was treated with triptorelin.One year later,the patient's testosterone level decreased and pubertal arrest occurred.Conclusion:The literature review in this study showed that the occurrence of hypogonadism combined with CPP is not unique to patients with KFS;it has also been reported in individuals with Turner syndrome,adrenal hypoplasia congenita,and other diseases.Such individuals share common features including partial hypogonadism and a normal hypothalamic-pituitary-gonadal axis.CPP is considered a prelude to hypogonadism,and treatment with a gonadotropin-releasing hormone agonist may prevent gonadal failure.展开更多
文摘Introduction:Incomplete pubertal development is a common phenomenon found in patients with Klinefelter syndrome (KFS).KFS combined with central precocious puberty (CPP) rarely occurs.We herein report a rare case of KFS with CPP and review several studies to determine the possible mechanism underlying this condition.Case presentation:An 8-year,5-month-old male patient was admitted to our hospital because of enlargement of the penis and small testes.Laboratory evaluation revealed high luteinizing hormone and follicle-stimulating hormone levels,a high testosterone level,and the 48,XXYY karyotype.He was treated with triptorelin.One year later,the patient's testosterone level decreased and pubertal arrest occurred.Conclusion:The literature review in this study showed that the occurrence of hypogonadism combined with CPP is not unique to patients with KFS;it has also been reported in individuals with Turner syndrome,adrenal hypoplasia congenita,and other diseases.Such individuals share common features including partial hypogonadism and a normal hypothalamic-pituitary-gonadal axis.CPP is considered a prelude to hypogonadism,and treatment with a gonadotropin-releasing hormone agonist may prevent gonadal failure.
