Guevara-Aguirre J, Rosenbloom A L, Vaccarello M A, Fielder P J, de la Vega A, Diamond F B, Rosenfeld R G
Instituto Endocrinologia Metabolismo y Reproduccion, Quito, Ecuador.
Acta Paediatr Scand Suppl. 1991;377:96-103. doi: 10.1111/apa.1991.80.s377.96.
Approximately 60 cases of GHRD (Laron syndrome) were reported before 1990 and half of these were from Israel. We have described 47 additional patients from an inbred population of South Ecuador and have emphasized certain clinical features including: markedly advanced osseous maturation for height age; normal body proportions in childhood but child-like proportions in adults; much greater deviation of stature than head size, giving an appearance of large cranium and small facies; underweight in childhood despite the appearance of obesity and true obesity in adulthood; blue scleras; and limited elbow extension. The Ecuadorean patients differed markedly and most importantly from the other large concentration, in Israel, by being of normal or superior intelligence, suggesting a unique linkage in the Ecuadorean population. The Ecuadorean population also differed in that those patients coming from Loja province had a markedly skewed sex ratio (19 females: 2 males), while those from El Oro province had a normal sex distribution (14 females: 12 males). The phenotypic similarity between the El Oro and Loja patients indicates that this abnormal sex distribution is not a direct result of the GHRD.
1990年以前报告了约60例生长激素抵抗性侏儒症（拉伦综合征），其中一半来自以色列。我们描述了另外47例来自厄瓜多尔南部近亲人群的患者，并强调了某些临床特征，包括：身高年龄对应的骨成熟明显提前；儿童期身体比例正常，但成年后呈儿童样比例；身高偏差比头围大得多，呈现出大头颅和小脸的外观；儿童期体重不足，尽管成年后有肥胖和真性肥胖的表现；巩膜呈蓝色；以及肘部伸展受限。厄瓜多尔患者与另一个集中病例较多的群体（以色列）有明显且最重要的不同，即厄瓜多尔患者智力正常或高于平均水平，这表明厄瓜多尔人群存在独特的联系。厄瓜多尔人群的另一个不同之处在于，来自洛哈省的患者性别比例明显失衡（19名女性：2名男性），而来自埃洛罗省的患者性别分布正常（14名女性：12名男性）。埃洛罗省和洛哈省患者的表型相似性表明，这种异常的性别分布并非生长激素抵抗性侏儒症的直接结果。
