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Inhibin B and Anti-Müllerian Hormone, But Not Testosterone Levels, Are Normal in Infants with Nonmosaic Klinefelter Syndrome

Laboratoire de Biologie Hormonale (N.L., M.R.), Hôpital Saint-Vincent-de-Paul, 75014 Paris, France; Children’s Hospital of New York (I.F.), Division of Pediatric Endocrinology, Columbia University, New York, New York 10032; and Service d’Endocrinologie Pédiatrique (J.-C.C.), Hôpital Saint-Vincent-de-Paul, 75014 Paris, France

Address all correspondence and requests for reprints to: Dr. Najiba Lahlou, Biologie Hormonale, Hôpital Saint-Vincent-de-Paul, 82 avenue Denfert-Rochereau, 75014 Paris, France. E-mail: najiba.lahlou{at}svp.ap-hop-paris.fr.

Klinefelter syndrome is a major cause of infertility in the male. Nevertheless, pregnancies were recently obtained by intracytoplasmic injection of sperm retrieved by surgery or ejaculation, underscoring the need to understand the role of Sertoli and Leydig cell secretions during development. In 18 infants with prenatally diagnosed homogenous 47,XXY karyotype, blood samples were taken from birth to 3 yr of age. Inhibin B (INHB), anti-Müllerian hormone (AMH), testosterone, FSH, and LH levels were compared with those in six adolescents with XXY karyotype and reference values established in 215 control infants. In XXY infants FSH, LH, INHB, and AMH did not differ from controls. Testosterone levels during the first trimester exhibited a physiological increase but were lower than in controls (P = 0.0001). Significant correlations were found between testosterone and LH (P < 0001), between INHB and FSH (P = 0.0011), and between AMH and INHB (P = 0.025). In XXY adolescents, AMH and INHB were undetectable. Our findings demonstrate that testosterone secretion is impaired in infants with Klinefelter syndrome. By contrast, INHB and AMH secretions were not altered, which raises the question of the mechanism(s) governing the decline of Sertoli cell function after puberty.

This work was supported by Columbia University (New York, New York) and Institut de Recherche Endocrinienne et Metabolique (Paris, France).

This work was presented in part at the 41st Annual Meeting of the European Society for Paediatric Endocrinology, Madrid, Spain, September 26–28, 2002.

Abbreviations: AMH, Anti-Müllerian hormone; hCG, human chorionic gonadotropin; INHB, inhibin B.

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