Anti-Müllerian Hormone levels in a large cohort of healthy Latin-American and Down syndrome males

GRINSPON R; BEDECARRÁS P; MARIA DE FÁTIMA BORGES; LUCIANE BUSSMANN; GERMÁN IÑÍGUEZ; ANA ROCHA; ELISABETE A. MANTOVANI RODRIGUES RESENDE ; FIGUEROA GACITUA V.; ANDREA FORRESTER; CARLOS MILANI; VIVIANA OSTA; MARÍA JOSÉ RIAL; GOTTLIEB S.; ANA CHIESA; KESELMAN A.; ANDREA ARCARI; HAMILTON CASSINELLI; GRYNGARTEN MIRTA; PATRICIA PAPENDIECK; MARINA TROIANO; FLORENCIA CLÉMENT; SOLEDAD RODRIGUEZ PRIETO; ROSA ENACÁN; BERGADÁ , IGNACIO; MARIA G. ROPELATO; MARÍA GABRIELA BALLERINI; SERGIO RECABARREN; TERESA SIR-PETERMANN ; ETHEL CODNER; VINICIUS N BRITO; BERENICE B. MENDONÇA; JEAN-YVES PICARD ; NATHALIE JOSSO; VÉRONIQUE GARZINO; REY RA

Boston

Congreso; Endocrine Society 93th Annual Meeting, 4 June 2011. Boston, USA; 2011

Endocrine Society

Background: 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.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. Objective and hypotheses: We asked whether trisomy 21 presents with pubertal-onset, germ cell-specific, primary hypogonadism, or whether the hypogonadism is established earlier and affects other testicular cell populations.We asked whether trisomy 21 presents with pubertal-onset, germ cell-specific, primary hypogonadism, or whether the hypogonadism is established earlier and affects other testicular cell populations. Methods: We assessed the pituitary-testicular axis functional status, especially Sertoli cell function. To compare with an adequate control population, we established reference levels for AMH in 357 normal males using a recently developed ultrasensitive assay.We assessed the pituitary-testicular axis functional status, especially Sertoli cell function. To compare with an adequate control population, we established reference levels for AMH in 357 normal males using a recently developed ultrasensitive assay. Results: In normal males, AMH increased from birth to 2-3 yr, then decreased to a plateau until pubertal onset, and further decreased until adulthood. The main fall was between Tanner stages 1 and 3, in coincidence with a significant increase in testis volume and serum testosterone. Serum AMH was above assay sensitivity at all ages (Table). In trisomy 21  AMH was lower than normal, indicating Sertoli cell dysfunction, from early infancy (Table).In normal males, AMH increased from birth to 2-3 yr, then decreased to a plateau until pubertal onset, and further decreased until adulthood. The main fall was between Tanner stages 1 and 3, in coincidence with a significant increase in testis volume and serum testosterone. Serum AMH was above assay sensitivity at all ages (Table). In trisomy 21  AMH was lower than normal, indicating Sertoli cell dysfunction, from early infancy (Table).