Establishment of testicular endocrine function impairment during childhood and puberty in boys with Klinefelter syndrome

BASTIDA MG; REY RA; BERGADÁ I; BEDECARRÁS P; ANDREONE LUZ; DEL REY G; BOYWITT A; ROPELATO MG; CASSINELLI H; ARCARI A; CAMPO SM; GOTTLIEB S

CLINICAL ENDOCRINOLOGY

WILEY-BLACKWELL PUBLISHING, INC

Lugar: Londres; Año: 2007

0300-0664

ObjectiveTo precisely characterize the chronology of testicularendocrine function impairment during childhood and adolescencein patients with Klinefelter syndrome.DesignRetrospective chart review.PatientsA total of 29 boys with Klinefelter syndrome with up to12·3 years follow-up.MeasurementsClinical features and serum hormone levels wereanalysed during follow-up.ResultsOf the 29 patients, 16 were prepubertal and 13 had alreadyentered puberty at their first visit. Fifteen patients were followed upthrough late puberty. Before puberty, LH, FSH, testosterone,anti-Müllerian hormone (AMH) and inhibin B were within theexpected range in almost all cases. However, levels of the inhibinα-subunit precursor Pro-αC were in the lowest levels of the normalrange in most cases. During puberty, FSH levels increased earlierand more markedly than LH. Inhibin B and AMH declined toabnormally low or undetectable levels in advanced pubertalstages. Although testosterone and Pro-αC levels were within thereference ranges in most cases, they were abnormally low for theobserved LH values.ConclusionsIn Klinefelter syndrome, a mild Leydig cell dysfunctionis present from early childhood in most cases and persists throughoutpuberty. Sertoli cell function is normal until mid puberty, when adramatic impairment is observed.