ABSTRACT
Background: Endometriosis involves the intestine, and its clinical manifestations are nonspecific and lack of etiological manifestations. The diagnosis is difficult, which often leads to misdiagnosis. We report a case of endometriosis which was misdiagnosed as intestinal malignant tumor after colonoscopy and three biopsies. Case Presentation: We reported a 42-year-old woman who went to see a doctor because of anal distension. She was examined by three gastrointestinal endoscopists at different levels in different hospitals and underwent biopsy at the same time. Combined with clinical manifestations, imaging examination, endoscopic examination and pathological examination, she was misdiagnosed as intestinal malignant tumor, and partial intestinal resection was performed according to the surgical principle of malignant tumor. Conclusion: Although there are advanced gastrointestinal endoscopy and imaging techniques, intestinal endometriosis is still easy to be misdiagnosed. As our case report shows, after three colonoscopy and biopsy, it is still misdiagnosed as intestinal malignant tumor. Further research is needed to improve the ability of preoperative diagnosis, which deserves the attention of gastroenterologists and obstetricians and gynecologists.
ABSTRACT
Background: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is mainly characterized by congenital aplasia of the uterus and the upper two-thirds of the vagina in females with normal secondary sex characteristics and female karyotype (46,XX). MRKH syndrome is typically diagnosed due to primary amenorrhea in adolescence and is very difficult to diagnose in childhood. MRKH syndrome combined with central precocious puberty (CPP) is extremely rare. In this article, we report a case of MRKH syndrome with idiopathic CPP (ICPP). Case Description: A 7-year-old girl was presented with development of bilateral breasts for 1 year and relatively low body height. Based on her age, clinical signs, and laboratory findings, she was initially diagnosed with ICPP and treated with sustained-release gonadotropin-releasing hormone analog (GnRHa) therapy, and recombinant human growth hormone (rhGH) therapy from the 6th month onwards. During the follow-up, ultrasound and magnetic resonance imaging showed no uterus or uterine neck, an unclear vaginal structure, and normal ovaries. Her chromosome karyotype was 46,XX. A pediatric gynecological examination showed colpatresia. She was finally diagnosed with MRKH syndrome combined with CPP. After the GnRHa and rhGH treatment, her height became normal compared to her peers, and her bone age development was delayed. Conclusions: The present case suggests the possibility of concomitant CPP in patients with MRKH syndrome. The gonads and sexual organs of children with precocious puberty should be carefully monitored and assessed to exclude any sexual organ disorders.
