División de Endocrinología and Centro de Investigaciones Endocrinológicas, Hospital de Niños Ricardo Gutiérrez, Buenos Aires, Argentina.
Clin Endocrinol (Oxf). 2007 Dec;67(6):863-70. doi: 10.1111/j.1365-2265.2007.02977.x. Epub 2007 Jul 20.
To precisely characterize the chronology of testicular endocrine function impairment during childhood and adolescence in patients with Klinefelter syndrome. Design Retrospective chart review. Patients A total of 29 boys with Klinefelter syndrome with up to 12.3 years follow-up.
Clinical features and serum hormone levels were analysed during follow-up.
Of the 29 patients, 16 were prepubertal and 13 had already entered puberty at their first visit. Fifteen patients were followed up through late puberty. Before puberty, LH, FSH, testosterone, anti-Müllerian hormone (AMH) and inhibin B were within the expected range in almost all cases. However, levels of the inhibin alpha-subunit precursor Pro-alphaC were in the lowest levels of the normal range in most cases. During puberty, FSH levels increased earlier and more markedly than LH. Inhibin B and AMH declined to abnormally low or undetectable levels in advanced pubertal stages. Although testosterone and Pro-alphaC levels were within the reference ranges in most cases, they were abnormally low for the observed LH values.
In Klinefelter syndrome, a mild Leydig cell dysfunction is present from early childhood in most cases and persists throughout puberty. Sertoli cell function is normal until mid puberty, when a dramatic impairment is observed.
精确描述克氏综合征患者儿童和青少年时期睾丸内分泌功能障碍的发生时间。
回顾性病历分析。
29 名克氏综合征男孩，随访时间最长达 12.3 年。
分析了随访期间的临床特征和血清激素水平。
29 名患者中，16 名处于青春前期，13 名首次就诊时已进入青春期。15 名患者在青春期后期得到随访。在青春期前，LH、FSH、睾酮、抗苗勒管激素（AMH）和抑制素 B 在大多数情况下都在预期范围内。然而，大多数情况下，抑制素 alpha 亚基前体 Pro-alphaC 的水平处于正常范围的最低水平。在青春期，FSH 水平的升高早于 LH，且更为显著。在青春期后期，抑制素 B 和 AMH 降至异常低水平或无法检测。尽管在大多数情况下，睾酮和 Pro-alphaC 的水平在参考范围内，但它们与观察到的 LH 值相比异常低。
在克氏综合征中，大多数情况下从儿童早期就存在轻度的 Leydig 细胞功能障碍，并持续整个青春期。Sertoli 细胞功能在青春期中期之前正常，此时观察到明显的损害。
