PDF(Pubmed)
Abstract：
UNASSIGNED: Imperforate hymen is an uncommon obstructive anomaly of the developing female reproductive tract. There are occasional case reports of imperforate hymen occurring in family clusters, suggesting a plausible familial mode of inheritance. We describe a set of monozygotic premature twins with imperforate hymen noted at birth, whose mother was diagnosed with the same condition as a teenager. We also elucidate the likely underlying mode of inheritance of imperforate hymen.
UNASSIGNED: We utilized the CARE (Case Report) guideline in reporting the cases.
UNASSIGNED: These are monozygotic twins born prematurely at 30 weeks of gestation, noted at birth to have bulging cyst-like structures protruding from their vaginas. The twins were not dysmorphic and did not have any other congenital malformations. Over the next few weeks, these cyst-like structures (mucoceles) became less prominent. The genital anomaly was diagnosed as imperforate hymen. Their mother was also diagnosed with an imperforate hymen when she was 12 years old and was treated with hymenectomy.
UNASSIGNED: This unique occurrence of imperforate hymen in a set of premature monozygotic twins and their mother suggests a plausible autosomal or X-linked dominant mode of inheritance. Given the role of genetic inheritance in imperforate hymen development, it is important to screen female relatives of an index case for this genital anomaly.
UNASSIGNED: We utilized the CARE (Case Report) guideline in reporting the cases.
UNASSIGNED: These are monozygotic twins born prematurely at 30 weeks of gestation, noted at birth to have bulging cyst-like structures protruding from their vaginas. The twins were not dysmorphic and did not have any other congenital malformations. Over the next few weeks, these cyst-like structures (mucoceles) became less prominent. The genital anomaly was diagnosed as imperforate hymen. Their mother was also diagnosed with an imperforate hymen when she was 12 years old and was treated with hymenectomy.
UNASSIGNED: This unique occurrence of imperforate hymen in a set of premature monozygotic twins and their mother suggests a plausible autosomal or X-linked dominant mode of inheritance. Given the role of genetic inheritance in imperforate hymen development, it is important to screen female relatives of an index case for this genital anomaly.
摘要：
■处女膜穿孔是发育中的女性生殖道的一种罕见的阻塞性异常。偶尔有病例报告在家庭簇中出现处女膜闭锁，暗示了一种似是而非的家族遗传方式.我们描述了一组出生时出现无孔处女膜的单卵早产双胞胎，她的母亲被诊断出患有与青少年相同的疾病。我们还阐明了无孔处女膜遗传的可能潜在模式。
■我们在报告病例时使用了CARE（病例报告）指南。
■这些是在妊娠30周时过早出生的单卵双胞胎，出生时注意到有从阴道突出的囊肿样结构。这对双胞胎没有畸形，也没有任何其他先天性畸形。在接下来的几周里，这些囊肿样结构（粘液囊肿）变得不那么突出。生殖器异常被诊断为处女膜闭锁。他们的母亲在12岁时也被诊断出处女膜无孔，并接受了处女膜切除术。
■在一组早熟的单卵双胞胎及其母亲中，处女膜无孔的独特发生表明了一种合理的常染色体或X连锁显性遗传模式。鉴于遗传在处女膜无孔发育中的作用，重要的是要筛查这种生殖器异常的索引病例的女性亲属。
■我们在报告病例时使用了CARE（病例报告）指南。
■这些是在妊娠30周时过早出生的单卵双胞胎，出生时注意到有从阴道突出的囊肿样结构。这对双胞胎没有畸形，也没有任何其他先天性畸形。在接下来的几周里，这些囊肿样结构（粘液囊肿）变得不那么突出。生殖器异常被诊断为处女膜闭锁。他们的母亲在12岁时也被诊断出处女膜无孔，并接受了处女膜切除术。
■在一组早熟的单卵双胞胎及其母亲中，处女膜无孔的独特发生表明了一种合理的常染色体或X连锁显性遗传模式。鉴于遗传在处女膜无孔发育中的作用，重要的是要筛查这种生殖器异常的索引病例的女性亲属。
