Department of Hormonology and Metabolic Disorders, Hopital Cochin, APHP, Paris-Descartes, University, France.
Acta Paediatr. 2011 Jun;100(6):824-9. doi: 10.1111/j.1651-2227.2011.02280.x. Epub 2011 Apr 20.
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.
将我们最近在 77 名 <2 岁非嵌合型 XXY 婴儿队列中的研究结果与已报道的临床和生物学特征进行比较。
报告的大多数 XXY 新生儿具有正常的外生殖器。仅未降睾丸和/或小阴茎被确定为转诊的原因。运动和语言技能延迟也是新生儿进行核型分析的指征。我们队列中的所有受试者（73 例产前检出，5 例产后诊断）的身高和体重均在正常范围内，且无畸形。Leydig 细胞分泌的胰岛素样肽-3 和睾酮对黄体生成素的反应似乎正常。在已报道的研究中，抑制素 B 水平在正常范围内，抗苗勒管激素水平正常或升高，卵泡刺激素（FSH）水平明显高于对照值，数据表明对 FSH 存在相对抵抗。
早期发现克莱恩费尔特综合征有利于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，以期在精原细胞退化完成之前设计未来的保守干预措施。
