Testicular size development and reproductive hormones in boys and adult males with Noonan syndrome: a longitudinal study
Testicular size development and reproductive hormones in boys and adult males with Noonan syndrome: a longitudinal study
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DOI：
10.1530/eje-11-0092
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发表时间：
2011-07-01
影响因子：
5.8
通讯作者：
Dahlgren, Jovanna
中科院分区：
文献类型：
--
作者：
Ankarberg-Lindgren, Carina;Westphal, Otto;Dahlgren, Jovanna
目的：表征睾丸大小和生殖激素的变化，并调查努南综合征 (NS) 男性青春期延迟和生育能力受损的病因。设计：在本研究中，对 12 名 NS 男性从青春期前/早期直至成年进行纵向随访。在这 12 名男性中，有 10 名除 NS 之外没有病史，并分为睾丸未降 (UT) 和睾丸下降 (DT) 两组，并与参考人群进行比较。方法：通过免疫测定法测定血清中的激素浓度，并使用睾丸计测量睾丸体积。结果：几乎所有病例在青春期之前，生殖激素水平都在预期范围内。在某些情况下，LH、FSH、睾酮和雌二醇 (E-2) 浓度在青春期开始增加，而抑制素 B 和抗苗勒氏管激素 (AMH) 则降至正常水平以下。大多数接受研究的男孩的睾丸都很小，在大多数情况下，成年后会恢复到正常大小。在青春期或成年期，UT 组和 DT 组之间的生殖激素没有差异。然而，成年后，患有 NS 的男性的 LH（5.7 vs 4.0 U/l，P < 0.01）、FSH（7.1 vs 2.5 U/l，P < 0.001）、睾酮（18.7 vs 15.6 nmol/l，P < 0.01）和 E2（66 vs 46 pmol/l，P < 0.001）水平较高，AMH 较低（33 vs 65 pmol/l，P < 0.01）和抑制素 B（中位数 108 vs 187 pg/ml，P < 0.01）水平高于参考人群。 结论：在 NS 男性中，支持细胞和间质细胞功能障碍很常见，生殖激素水平在成年后逐渐恶化。
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 E2 (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.