Shokeir M H
Birth Defects Orig Artic Ser. 1978;14(6C):147-65.
Thirteen unrelated females ranging in age from 15 to 28 years old have recently been recognized to have aplasia of the müllerian duct derivatives. They presented one or both of two major complaints: amenorrhea and difficulty or pain on attempted sexual intercourse. Clinically all cases were characterized by absence of vagina and failure to palpate the uterus rectally; normal mature external genitalia; normal stature, intellect, hearing and vision; normal secondary sex characteristics including breast development, pubic and axillary hair. Libido was normally preserved and sexual self-identification was unambiguously feminine. Apart from the pelvic findings, the affected individuals were phenotypically unremarkable women. Laparoscopic examination revealed absent uteri, absent or rudimentary tubes, but normally developed ovaries. Cytogenetic evaluation disclosed normal female karyotypes with normal banding patterns on all patients. Endocrine investigations revealed female cyclic pattern consistent with normal ovarian endocrine function. Biopsy specimens on the ovaries of 5 patients were histologically unremarkable with evidence of normal follicular activity. Investigation of the families of these patients revealed similarly affected individuals in 10 families. In 8 of these the pattern of transmission was consistent with autosomal dominant inheritance with sex limitation to XX individuals; in 2 the distribution of affected individuals was compatible with either sex-limited autosomal dominant or autosomal recessive inheritance. Though unlikely, polygenic inheritance remains a formal possibility. In 3 families, apart from the propositae, no other affected females were ascertained. In these, the etiology is either teratogenic or genetic with autosomal dominant or recessive inheritance, and sex limitation to females. Three further cases with partial aplasia or the Rokitansky-Kuster-Hauser syndrome (RKHS) were ascertained. No other similarly affected individuals were encountered in their families.
最近发现13名年龄在15至28岁之间的无血缘关系女性患有苗勒管衍生物发育不全。她们出现了以下两种主要症状中的一种或两种：闭经以及性交尝试时出现困难或疼痛。临床上，所有病例的特征均为阴道缺失且直肠指诊未触及子宫；外生殖器成熟正常；身材、智力、听力和视力正常；第二性征正常，包括乳房发育、阴毛和腋毛。性欲通常保留，性自我认同明确为女性。除盆腔检查结果外，这些受影响个体在表型上是无明显异常的女性。腹腔镜检查显示子宫缺失、输卵管缺失或发育不全，但卵巢发育正常。细胞遗传学评估显示所有患者的女性核型正常，带型模式正常。内分泌检查显示女性周期性模式与正常卵巢内分泌功能一致。对5名患者的卵巢活检标本进行组织学检查无明显异常，有正常卵泡活动的证据。对这些患者的家族调查发现，10个家族中有类似受影响的个体。其中8个家族的遗传模式符合常染色体显性遗传，性别限制于XX个体；2个家族中受影响个体的分布与性连锁常染色体显性或常染色体隐性遗传相符。虽然可能性不大，但多基因遗传仍是一种形式上的可能性。在3个家族中，除了先证者外，未确定其他受影响的女性。在这些家族中，病因要么是致畸性的，要么是具有常染色体显性或隐性遗传且性别限制于女性的遗传性的。另外还确定了3例部分发育不全或罗基坦斯基-库斯特-豪泽综合征（RKHS）的病例。在他们的家族中未发现其他类似受影响的个体。
