Issue 11/2024
Koritska, М., Robeva, R., Elenkova, A., Zaharieva, S.
USBALE „Acad. Iv. Penchev“; Center of Expertise in Rare Endocrine Diseases;
Department of Endocrinology, MF, Medical University-Sofia;
European Network for Rare Endocrine Diseases (ENDO-ERN)
Introduction: Klinefelter syndrome (KS) is a common chromosomal aberration characterized by an extra X chromosome.The clinical symptoms are variable, the leading symptom being disorders in spermatogenesis. Affected men usually have azoospermia and infertility, and in adulthood, low testosterone levels and multiple comorbidities are often found. However, less than 40% of men with CS in developed countries are diagnosed. Clinical case: We present a 37-year-old patient with infertility, in whom multiple factors of damage to the germinal epithelium, including infectious and toxic, were found. There are no other subjective complaints or marked hypogonadism. However, the patient was genetically confirmed to have KC with karyotype 47, XXY. Discussion: CS patients may have variable symptoms and discrete clinical manifestations, especially at a younger age. This can cause difficulties in diagnosing the disease. CS is associated not only with testicular dysfunction, but also with an increased risk of developing metabolic, bone, autoimmune and oncological diseases, and early diagnosis is key to their prevention and treatment. The role of general practitioners is extremely important in the diagnosis of CS in patients with pronounced or discrete clinical symptoms.
Key words: Klinefelter syndrome; Azoospermia; Infertility; Karyogram; Androgen deficiency.
Address for correspondence:
Koritska, M.
USBALE „Acad. Iv. Penchev“
2, Zdrave, Str.
1463, Sofia