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  • Title: Establishment of testicular endocrine function impairment during childhood and puberty in boys with Klinefelter syndrome.
    Author: Bastida MG, Rey RA, Bergadá I, Bedecarrás P, Andreone L, del Rey G, Boywitt A, Ropelato MG, Cassinelli H, Arcari A, Campo S, Gottlieb S.
    Journal: Clin Endocrinol (Oxf); 2007 Dec; 67(6):863-70. PubMed ID: 17645574.
    Abstract:
    OBJECTIVE: To precisely characterize the chronology of testicular endocrine function impairment during childhood and adolescence in patients with Klinefelter syndrome. Design Retrospective chart review. Patients A total of 29 boys with Klinefelter syndrome with up to 12.3 years follow-up. MEASUREMENTS: Clinical features and serum hormone levels were analysed during follow-up. RESULTS: Of the 29 patients, 16 were prepubertal and 13 had already entered puberty at their first visit. Fifteen patients were followed up through late puberty. Before puberty, LH, FSH, testosterone, anti-Müllerian hormone (AMH) and inhibin B were within the expected range in almost all cases. However, levels of the inhibin alpha-subunit precursor Pro-alphaC were in the lowest levels of the normal range in most cases. During puberty, FSH levels increased earlier and more markedly than LH. Inhibin B and AMH declined to abnormally low or undetectable levels in advanced pubertal stages. Although testosterone and Pro-alphaC levels were within the reference ranges in most cases, they were abnormally low for the observed LH values. CONCLUSIONS: In Klinefelter syndrome, a mild Leydig cell dysfunction is present from early childhood in most cases and persists throughout puberty. Sertoli cell function is normal until mid puberty, when a dramatic impairment is observed.
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