Department of Pediatrics, Institute of Clinical Sciences, Göteborg Pediatric Growth Research Center, The Queen Silvia Children's Hospital, The Sahlgrenska Academy at University of Gothenborg, S-416 85 Göteborg, Sweden.
Eur J Endocrinol. 2011 Jul;165(1):137-44. doi: 10.1530/EJE-11-0092. Epub 2011 May 6.
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).
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.
Hormone concentrations in serum were determined by immunoassays and testicular volume was measured using an orchidometer.
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-Müllerian 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.
In NS males, both Sertoli and Leydig cell dysfunction is common with reproductive hormone levels deteriorating progressively to adulthood.
描述努南综合征（Noonan syndrome，NS）男性患者睾丸大小和生殖激素的变化，并探讨其青春期延迟和生育力受损的病因。
本研究对 12 例 NS 男性患者进行了前瞻性随访，从青春期前/早期到成年期。12 例男性中，除 NS 外，10 例无其他病史，分为隐睾（undescended testes，UT）和睾丸下降（descended testes，DT）两组，并与参考人群进行比较。
采用免疫分析法测定血清中激素浓度，用睾丸测量计测量睾丸体积。
青春期前，大多数患者的生殖激素水平处于正常范围。在某些情况下，LH、FSH 和睾酮及雌二醇（E2）浓度在青春期开始升高，抑制素 B 和抗苗勒管激素（AMH）水平降至低于正常水平。研究中大多数男孩的睾丸较小，在大多数情况下，睾丸在成年后会发育至正常大小。在青春期或成年期，UT 和 DT 组之间的生殖激素水平无差异。然而，作为成年人，NS 男性的 LH（5.7 比 4.0 U/l，P<0.01）、FSH（7.1 比 2.5 U/l，P<0.001）、睾酮（18.7 比 15.6 nmol/l，P<0.01）和 E2（66 比 46 pmol/l，P<0.001）水平较高，而 AMH（33 比 65 pmol/l，P<0.01）和抑制素 B（中位数 108 比 187 pg/ml，P<0.01）水平较低。
NS 男性的 Sertoli 和 Leydig 细胞功能障碍均较为常见，生殖激素水平逐渐恶化至成年期。
