Central precocious puberty as a prelude to hypogonadism in a patient with Klinefelter syndrome

Abstract

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.