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Testicular size development and reproductive hormones in boys and adult males with Noonan syndrome: a longitudinal study

Journal article
Authors Carina Ankarberg-Lindgren
Otto Westphal
Jovanna Dahlgren
Published in European Journal of Endocrinology
Volume 165
Issue 1
Pages 137-44
ISSN 0804-4643
Publication year 2011
Published at Institute of Clinical Sciences, Department of Pediatrics
Pages 137-44
Language en
Subject categories Medical and Health Sciences


Objective To characterise changes in testicular size and reproductive hormones and to investigate the aetiology of delayed puberty and impaired fertility in males with Noonan syndrome (NS). Design In this study, 12 males with NS were longitudinally followed from pre/early puberty until adulthood. Of the 12 males, ten had no medical history other than NS and were divided into two groups, undescended testes (UT), and descended testes (DT) and compared with a reference population. Methods Hormone concentrations in serum were determined by immunoassays and testicular volume was measured using an orchidometer. Results Before puberty, reproductive hormone levels were within the expected range in almost all cases. In some cases, LH, FSH and testosterone and oestradiol (E(2)) concentrations started to increase during puberty and inhibin B and anti-Mullerian hormone (AMH) declined to subnormal levels. Most of the boys studied had small testes that, in the majority of cases, progressed to normal size in adulthood. No difference in reproductive hormones was observed between the UT and DT groups either during puberty or at adulthood. However, as adults, males with NS had higher LH (5.7 vs 4.0 U/l, P<0.01), FSH (7.1 vs 2.5 U/l, P<0.001), testosterone (18.7 vs 15.6 nmol/l, P<0.01) and E(2) (66 vs 46 pmol/l, P<0.001) levels and lower AMH (33 vs 65 pmol/l, P<0.01) and inhibin B (median 108 vs 187 pg/ml, P<0.01) levels than the reference population. Conclusions In NS males, both Sertoli and Leydig cell dysfunction is common with reproductive hormone levels deteriorating progressively to adulthood.

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