Meyers C M, Boughman J A, Rivas M, Wilroy R S, Simpson J L
Department of Obstetrics and Gynecology, University of Maryland, Baltimore 21201, USA.
Am J Med Genet. 1996 Jun 28;63(4):518-24. doi: 10.1002/(SICI)1096-8628(19960628)63:4<518::AID-AJMG2>3.0.CO;2-K.
Gonadal (ovarian) dysgenesis with normal chromosomes (46,XX) clearly is a heterogeneous condition. In some forms, the defect is restricted to the gonads, whereas other affected females show neurosensory hearing loss (Perrault syndrome). In another form, brothers may have germ cell aplasia [Granat et al., Fertil Steril 1983; 40:215-219]. Nongenetic causes exist as well. To elucidate the proportion of XX gonadal (ovarian) dysgenesis due to autosomal recessive genes, we analyzed published (N = 17) and unpublished (N = 8) families having at least two female offspring. Analysis was restricted to cases in whom ovarian failure was documented by the presence of streak ovaries (published cases) or elevated gonadotropins (unpublished cases). We reasoned that the closer to that segregation ratio expected for an autosomal recessive trait (0.25), the lower the frequency of nongenetic forms. Segregation analysis utilized standard correction for single ascertainment, with only females included in the preliminary analysis. The segregation ratio estimate was 0.16. Our results suggest that many 46,XX females with gonadal (ovarian) dysgenesis represent a disorder segregating as an autosomal recessive trait, placing sisters of these cases at a 25% risk for this disorder.
具有正常染色体（46,XX）的性腺（卵巢）发育不全显然是一种异质性疾病。在某些形式中，缺陷仅限于性腺，而其他受影响的女性则表现为神经感觉性听力丧失（佩罗特综合征）。在另一种形式中，兄弟可能患有生殖细胞发育不全[格拉纳特等人，《生育与不育》1983年；40:215 - 219]。非遗传原因也存在。为了阐明常染色体隐性基因导致的XX性腺（卵巢）发育不全的比例，我们分析了已发表（N = 17）和未发表（N = 8）的至少有两个女性后代的家系。分析仅限于通过条索状卵巢（已发表病例）或促性腺激素升高（未发表病例）记录有卵巢功能衰竭的病例。我们推断，越接近常染色体隐性性状预期的分离比例（0.25），非遗传形式的频率就越低。分离分析采用了单例确定的标准校正方法，初步分析仅纳入女性。分离比例估计为0.16。我们的结果表明，许多患有性腺（卵巢）发育不全的46,XX女性代表一种作为常染色体隐性性状分离的疾病，这些病例的姐妹患这种疾病的风险为25%。
