Vidal Alfonso, Loidi Lourdes, Colino Esmeralda, del Carmen Miranda María, Barrio Raquel
Unidad de Endocrinología Pediátrica, Hospital Universitario Ramón y Cajal, Madrid, Spain.
Med Clin (Barc). 2007 May 26;128(20):777-9. doi: 10.1157/13106330.
Hypogonadotropic hypogonadism and anosmia characterize Kallmann's syndrome, whose X-linked form is due to mutations in the KAL1 gene. We studied a family with 6 affected members.
We compare their clinical (chryptorchidism, micropenis, puberty, associated malformations), analytical (gonadotrophin releasing hormone test, and human chorionic gonadotropin test), genetic (cariotype), and radiological data of the described familiar cases with other reported sporadic cases.
The described cases carried the R191X mutation. We found phenotypic heterogeneity between the patients.
We report the first familiar cases of Kallmann's syndrome due to the R191X mutation. Probably other genes and/or epigenetic factors determine the phenotype.
促性腺激素缺乏性性腺功能减退和嗅觉缺失是卡尔曼综合征的特征，其X连锁型是由KAL1基因突变所致。我们研究了一个有6名受累成员的家族。
我们将所描述的家族性病例的临床（隐睾、小阴茎、青春期、相关畸形）、分析（促性腺激素释放激素试验和人绒毛膜促性腺激素试验）、遗传学（核型）及放射学数据与其他报道的散发性病例进行比较。
所描述的病例携带R191X突变。我们发现患者之间存在表型异质性。
我们报道了首例因R191X突变导致的卡尔曼综合征家族性病例。可能其他基因和/或表观遗传因素决定了表型。
