Clinical and hormonal status of infants with nonmosaic XXY karyotype.
Clinical and hormonal status of infants with nonmosaic XXY karyotype.
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DOI：
10.1111/j.1651-2227.2011.02280.x
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发表时间：
2011-06
期刊：
影响因子：
--
通讯作者：
Roger M
中科院分区：
文献类型：
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作者：
Lahlou N;Fennoy I;Ross JL;Bouvattier C;Roger M
比较我们最近在77名2岁以下非镶嵌性XXY婴儿队列中的发现与已报道的临床和生物学特征。大多数报告的XXY新生儿外生殖器正常。只有隐睾和/或小阴茎被确定为转诊原因。延迟的行走和言语能力也是产后核型分析的指征。来自我们队列的所有受试者（73例产前检测受试者，5例产后诊断）的身高和体重均在正常范围内，并且没有畸形。胰岛素样肽-3和睾丸间质细胞分泌的睾酮似乎正常敏感的促黄体激素。在报道的研究中，抑制素B水平在正常范围内，抗苗勒管激素水平正常或较高，促卵泡激素（FSH）水平显着高于对照值，数据与对FSH的相对耐药性一致。Klinefelter综合征的早期检测是理想的前瞻性监测发育问题的出现和睾丸小管功能的进行性下降，希望在生殖细胞变性完成之前设计未来的保守干预措施。
To compare our recent findings in a cohort of 77 nonmosaic XXY infants <2 years of age with clinical and biological features already reported. The majority of reported XXY neonates had normal external genitalia. Only undescended testes and/or micropenis were identified reasons for referral. Delayed ambulation and speech skills were also indications for postnatally karyotyping. All subjects from our cohort (73 prenatally detected subjects, five postnatal diagnoses) had height and weight within the normal range, and were not dysmorphic. Insulin-like-peptide-3 and testosterone secretion by Leydig cells appeared normally sensitive to luteinizing hormone. In reported studies, inhibin B levels were within normal range, anti-Mullerian hormone levels were normal or high and follicle-stimulating hormone (FSH) levels were significantly higher than control values, data consistent with a relative resistance to FSH. Early detection of Klinefelter syndrome is desirable for prospectively monitoring the apparition of developmental problems and the progressive decline in the tubular function of the testis, with the hope of designing future conservative interventions before germ cell degeneration is completed.