Early onset of primary hypogonadism revealed by serum anti-Mu llerian hormone determination during infancy and childhood in trisomy 21 R. P. Grinspon, P. Bedecarras, M. G. Ballerini, G. Iñiguez, A. Rocha, E. A. Mantovani Rodrigues Resende, V. N. Brito

GRINSPON R; BEDECARRAS P; BALLERINI M G; IÑIGUEZ G; ROCHA A; MANTOVANI E A; RODRIGUES RESENDE, V.; BRITO N; MILANI C; FIGUEROA GACITUA V; . CHIESA A,; KESELMAN A; GOTTLIEB S; BORGES M F; REY R

INTERNATIONAL JOURNAL OF ANDROLOGY

WILEY-BLACKWELL PUBLISHING, INC

Lugar: Londres; Año: 2011 vol. 34 p. 487 - 498

0105-6263

Male patients with an extra sex chromosome or autosome are expected to present primary hypogonadism at puberty owing to meiotic germ-cell failure. Scarce information is available on trisomy 21, a frequent autosomal aneuploidy. Our objective was to assess whether trisomy 21 presents with pubertal-onset, germ-cell specific, primary hypogonadism in males, or whether the hypogonadism is established earlier and affects other testicular cell populations. We assessed the functional status of the pituitary-testicular axis, especially Sertoli cell function, in 117 boys with trisomy 21 (ages: 2 months– 20 year). To compare with an adequate control population, we established reference levels for serum anti-Mu¨llerian hormone (AMH) in 421 normal males, from birth to adulthood, using a recently developed ultrasensitive assay. In trisomy 21, AMH was lower than normal, indicating Sertoli cell dysfunction, from early infancy, independently of the existence of cryptorchidism. The overall prevalence rate of AMH below the 3rd percentile was 64.3% in infants with trisomy 21. Follicle-stimulating hormone was elevated in patients