24:T472,IN 1956, Prader et al¹described a new syndrome which they called "Ein Syndrom von Adipositas, Kleinwuchs, Kryptorchismus und Oligophrenie nach myatonieartigem Zustand im Neugeborenenalter" (a syndrome of obesity, short growth, cryptorchidism, and mental retardation, with an amyotonia-like condition in the neonatal period). Since then, other cases have been reported^2-24(Table 1) under various titles. (Synonyms for this condition are: Syndrome of Willi-Prader,⁸of Willi, Prader, and Labhart,¹⁸of Prader-Willi,^13-15,23,24of Prader, Labhart, and Willi,⁷and of Prader, Labhart, Willi, and Fanconi.²¹[Fanconi, with Prader, Labhart, and Willi, was coauthor of an exhibit of this syndrome at the Eighth International Congress of Paediatrics, July 22-27, 1956, in Copenhagen.] Some of the more descriptive titles are: hypotonia, mental retardation, obesity, and cryptorchidism associated with dwarfism and diabetes in children⁵; hypogenital dystrophy with diabetic tendency¹²; congenital muscular weakness and hypotonia with mental retardation,25:T4ff,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.26:T6bb,

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