INVESTIGADORES
GRINSPON Romina
artículos
Título:
Early onset of primary hypogonadism revealed by serum anti-Müllerian hormone determination during infancy and childhood in trisomy 21
Autor/es:
ROMINA P. GRINSPON; PATRICIA BEDECARRÁS; MARÍA GABRIELA BALLERINI; GERMÁN IÑIGUEZ; ANA ROCHA; ELISABETE A. MANTOVANI RODRIGUES RESENDE; VINICIUS N BRITO; CARLOS MILANI; VERÓNICA FIGUEROA GACITÚA; ANA CHIESA; ANA KESELMAN; SILVIA GOTTLIEB; MARIA DE FÁTIMA BORGES; MARÍA GABRIELA ROPELATO; JEAN-YVES PICARD; ETHEL CODNER; RODOLFO A. REY
Revista:
INTERNATIONAL JOURNAL OF ANDROLOGY
Editorial:
WILEY-BLACKWELL PUBLISHING, INC
Referencias:
Lugar: Copenhague; Año: 2011 vol. 34 p. 487 - 498
ISSN:
0105-6263
Resumen:
ABSTRACT
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 in
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 to 20 yr). 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 AMH below the 3rd percentile was 64.3% in infants
with trisomy 21. FSH was elevated in patients <6 months and after pubertal onset. Testosterone was
within the normal range, but LH was elevated in most patients <6 months and after pubertal onset,
indicating a mild Leydig cell dysfunction. We conclude that in trisomy 21, primary hypogonadism
involves a combined dysfunction of Sertoli and Leydig cells, which can be observed independently of
cryptorchidism soon after birth, thus prompting the search for new hypotheses to explain the
pathophysiology of gonadal dysfunction in autosomal trisomy.