Cell Biology Division, Research Society, BJ Wadia Hospital for Children, Seth GS Medical College and King Edward Memorial Hospital, Parel, Mumbai, India.
Sex Dev. 2009;3(5):245-52. doi: 10.1159/000261659. Epub 2009 Nov 20.
Turner Syndrome (TS) is a disorder of human females associated with complete or partial loss of one of the X chromosomes, varying degrees of multiple congenital malformations and gonadal dysgenesis. However, the reason for the premature loss of germ cells in the TS ovaries is currently unknown. To understand the molecular basis of the gonadal dysgenesis the mRNA expression of Mullerian Inhibiting Substance (MIS) was examined in human fetal and adult TS ovaries and compared with normal ovaries by in situ hybridization. The expression of MIS was found to be increased in the granulosa cells of the TS ovaries as compared to that in normal ovaries, and these granulosa cells were organized to form testicular tubule like structures. MIS was also found to be ectopically expressed in the oocytes of the developing TS gonads. The stromal cells of the streak gonads of adult TS women abundantly expressed MIS. We speculate that the absence of a second X chromosome leads to over-expression of MIS that may be co-responsible for failure of ovarian differentiation in TS. MIS may be a potential negative regulator of ovarian development in humans.
特纳综合征（Turner Syndrome，TS）是一种与 X 染色体完全或部分缺失相关的人类女性疾病，表现为多种先天性畸形和性腺发育不全的不同程度。然而，目前尚不清楚 TS 卵巢中生殖细胞过早丢失的原因。为了了解性腺发育不全的分子基础，我们通过原位杂交技术检测了人类胎儿和成人 TS 卵巢中缪勒管抑制物质（Mullerian Inhibiting Substance，MIS）的 mRNA 表达，并与正常卵巢进行了比较。结果发现，与正常卵巢相比，TS 卵巢中的颗粒细胞中 MIS 的表达增加，这些颗粒细胞被组织形成睾丸小管样结构。MIS 也被发现异位表达于发育中的 TS 性腺的卵母细胞中。成年 TS 女性的条索状性腺的基质细胞大量表达 MIS。我们推测，第二个 X 染色体的缺失导致 MIS 的过度表达，这可能是 TS 卵巢分化失败的共同原因。MIS 可能是人类卵巢发育的潜在负调控因子。
