Chua Bernadine Han Ern, Amin Zubair, Ng Yvonne Peng Mei
MOH Holdings, Ministry of Health, Singapore, Singapore.
Department of Neonatology, Khoo Teck Puat-National University Children's Medical Institute, National University Health System, Singapore, Singapore.
Front Pediatr. 2024 Jul 19;12:1377290. doi: 10.3389/fped.2024.1377290. eCollection 2024.
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.
We utilized the CARE (Case Report) guideline in reporting the cases.
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.
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.
处女膜闭锁是女性生殖道发育过程中一种罕见的梗阻性异常。偶尔有关于处女膜闭锁在家族聚集性发生的病例报告，提示可能存在家族遗传模式。我们描述了一对单卵双胎早产女婴，出生时即发现处女膜闭锁，其母亲在青少年时期也被诊断为相同疾病。我们还阐明了处女膜闭锁可能的潜在遗传模式。
我们在报告病例时采用了CARE（病例报告）指南。
这对单卵双胎在孕30周时早产，出生时可见阴道有突出的囊肿样结构。这对双胞胎没有畸形，也没有其他先天性畸形。在接下来的几周里，这些囊肿样结构（黏液囊肿）变得不那么明显。生殖器异常被诊断为处女膜闭锁。她们的母亲在12岁时也被诊断为处女膜闭锁，并接受了处女膜切除术。
这对早产单卵双胎及其母亲均出现处女膜闭锁这一独特情况，提示可能存在常染色体或X连锁显性遗传模式。鉴于遗传因素在处女膜闭锁发生中的作用，对索引病例的女性亲属进行这种生殖器异常的筛查很重要。
