Artículo de revista
Early onset of primary hypogonadism revealed by serum anti-Müllerian hormone determination during infancy and childhood in trisomy 21
Fecha
2011Registro en:
International Journal of Andrology, Volumen 34, Issue 5 PART 2, 2018,
01056263
13652605
10.1111/j.1365-2605.2011.01210.x
Autor
Grinspon, R. P.
Bedecarrás, P.
Ballerini, M. G.
Iñíguez Vila, Germán
Rocha, A.
Mantovani Rodrigues Resende, E. A.
Brito, V. N.
Milani, C.
Figueroa Gacitúa, V.
Chiesa, A.
Keselman, A.
Gottlieb, S.
Borges, M. F.
Ropelato, M. G.
Picard, J. Y.
Codner Dujovne, Ethel
Rey, R. A.
Institución
Resumen
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: 2months-20year). To compare with an adequate control population, we established reference levels for serum anti-Müllerian 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