Khalil Touqa, Syed Faaezuddin, Elaasser Basant, Javaid Haroon A, Othman Usama I, Shehata Nabil
Internal Medicine, Alfaisal University College of Medicine, Riyadh, SAU.
Radiology, Saudi German Hospital Group, Riyadh, SAU.
Cureus. 2023 Feb 11;15(2):e34880. doi: 10.7759/cureus.34880. eCollection 2023 Feb.
Neonatal hydrometrocolpos (HMC) is a cystic dilatation of a neonate's vagina and uterus occurring secondary to congenital vaginal obstruction, with or without maternal estrogenic stimulation of uterine and cervical glands causing increased secretions during the prenatal and postnatal period. Diagnosis is made using ultrasonography and further confirmed by MRI. HMC in a neonate can rarely present with congenital anomalies such as polydactyly, which may indicate a variety of underlying genetic syndromes. There is a deficit in the literature as to whether the development of HMC in a neonate of consanguineous parents is an isolated finding or solely related to an underlying syndrome. We hope to help bridge this gap by reporting a case of a 12-day-old neonate presenting with hydrometrocolpos and polydactyly, born to consanguineous parents.
新生儿阴道积脓积水（HMC）是指新生儿阴道和子宫的囊性扩张，继发于先天性阴道梗阻，产前和产后期间可有或无母体雌激素对子宫和宫颈腺体的刺激导致分泌物增加。通过超声检查进行诊断，并通过磁共振成像（MRI）进一步确认。新生儿HMC很少伴有多指畸形等先天性异常，这可能提示多种潜在的遗传综合征。关于近亲结婚父母所生新生儿HMC的发生是孤立现象还是仅与潜在综合征有关，文献中存在不足。我们希望通过报告一例近亲结婚父母所生的12日龄新生儿出现阴道积脓积水和多指畸形的病例来填补这一空白。
