The syndrome of anosmia with hypogonadotropic hypogonadism: a genetic study of 18 new families and a review.
The syndrome of anosmia with hypogonadotropic hypogonadism: a genetic study of 18 new families and a review.
复制标题
伴有低促性腺激素性性腺功能减退症的嗅觉丧失综合征：18 个新家族的遗传学研究和综述。
DOI：
10.1002/ajmg.1320150307
复制
发表时间：
1983
期刊：
影响因子：
--
通讯作者：
J. M. Opitz
中科院分区：
文献类型：
--
作者：
B. White;A. Rogol;K. S. Brown;J. M. Lieblich;S. Rosen;J. M. Opitz
Among 18 NIH probands with anosmia and hypogonadotropic hypogonadism (AHH), seven had affected relatives and three had consanguineous parents. Both sexes were equally affected and parents were phenotypically normal. Parental age was not increased. Cleft lip and palate occurred in both eugonadal and hypogonadal persons, a previously reported association that may represent variable expression of AHH. Diabetes mellitus, usually insulin-dependent, was frequent in probands and their families. Other common traits included obesity, cryptorchidism, and hearing loss. All probands were chromosomally normal. The frequency of some dermatoglyphic traits of probands differed from normal, but no trait was unique to AHH. Segregation analysis of our proband sibships was consistent with a hypothesis of autosomal-recessive inheritance with variable expression. However, genetic heterogeneity was apparent when previous reports of familial AHH were surveyed. An X-linked or male sex-limited autosomal-dominant form with unilateral renal agenesis, mental retardation, and hypotelorism has been observed. The infrequent reports of direct male-to-male transmission limit characterization of an autosomal-dominant form of AHH. Our phenotypic analysis suggests that the traits of mental retardation, renal anomalies, hypotelorism, diabetes, and hearing loss may help to distinguish various forms of AHH, whereas cryptorchidism, clefts, and obesity appear in several types of families. At present, genetic counseling is dependent upon establishing inheritance pattern after examination for the known associated anomalies.
