Establishment of testicular endocrine function impairment during childhood and

BASTIDA, MG; REY, RA; BERGADA, I; BEDECARRÁS, P; ANDREONE, L; DEL REY, G; BOYWITT, A; ROPELATO MG; CASSINELLI, H; ARCARI, A; CAMPO, S; GOTTLIEB, S

CLINICAL ENDOCRINOLOGY

Año: 2007 vol. 67 p. 863 - 870

0300-0664

OBJECTIVE: To precisely characterize the chronology of testicular endocrinefunction impairment during childhood and adolescence in patients with Klinefeltersyndrome. Design Retrospective chart review. Patients A total of 29 boys withKlinefelter syndrome with up to 12.3 years follow-up. MEASUREMENTS: Clinicalfeatures and serum hormone levels were analysed during follow-up. RESULTS: Of the29 patients, 16 were prepubertal and 13 had already entered puberty at theirfirst visit. Fifteen patients were followed up through late puberty. Beforepuberty, LH, FSH, testosterone, anti-Müllerian hormone (AMH) and inhibin B werewithin the expected range in almost all cases. However, levels of the inhibinalpha-subunit precursor Pro-alphaC were in the lowest levels of the normal range in most cases. During puberty, FSH levels increased earlier and more markedlythan LH. Inhibin B and AMH declined to abnormally low or undetectable levels inadvanced pubertal stages. Although testosterone and Pro-alphaC levels were withinthe reference ranges in most cases, they were abnormally low for the observed LH values. CONCLUSIONS: In Klinefelter syndrome, a mild Leydig cell dysfunction ispresent from early childhood in most cases and persists throughout puberty.Sertoli cell function is normal until mid puberty, when a dramatic impairment is observed.