Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark.
Reproductive Medicine Unit, Institute for Women's Health, University College London Hospitals, London, UK.
Clin Endocrinol (Oxf). 2019 Jun;90(6):822-826. doi: 10.1111/cen.13963. Epub 2019 Apr 4.
The dual diagnosis of hypoplastic uterus in association with ovarian dysgenesis is regularly reported but the pathogenesis of the association is unclear. The uterus, however, may be invisible to all imaging modalities without at least six months of exogenous oestrogen exposure in complete ovarian failure. We assessed all available case reports in this category to estimate whether the apparent association between primary ovarian insufficiency or Turner syndrome and Mullerian agenesis can be largely accounted for by oestrogen deficiency.
A literature review of all cases in which an association between ovarian insufficiency or Turner syndrome and hypoplastic uterus has been reported.
PubMed was searched for all case reports associated with relevant key terms. In total, 22 publications with a total of 25 patients were identified and reviewed; 14 subjects had the normal female karyotype (46,XX), and 11 subjects had Turner Syndrome.
Proportion of subjects who had been exposed to adequate oestrogen prior to the absent uterine diagnosis.
A diagnosis of absent uterus was made prior to exposure to exogenous oestrogen in 22/25 (88%) of subjects with primary hypogonadism including 14/14 females with normal karyotype and 8/11 females with Turner syndrome.
Oestrogen deficiency is a possible explanation for most subjects being reported as having Mullerian agenesis in association with Turner syndrome or primary ovarian insufficiency. In the presence of oestrogen deficiency, no conclusion can be made about the status of the uterus until adequate exposure to exogenous oestrogen has been completed and we suggest reassessment of the uterus when full adult dose has been reached towards the end of induction of puberty.
子宫发育不全伴卵巢发育不全的双重诊断经常被报道，但这种关联的发病机制尚不清楚。然而，如果在完全卵巢衰竭的情况下没有至少六个月的外源性雌激素暴露，那么所有成像方式都可能无法看到子宫。我们评估了这一类别中的所有现有病例报告，以评估原发性卵巢功能不全或特纳综合征与中肾管发育不全之间的明显关联是否可以在很大程度上归因于雌激素缺乏。
对所有报道过卵巢功能不全或特纳综合征与子宫发育不全相关的病例进行文献复习。
通过与相关关键词相关的搜索，在 PubMed 中搜索所有病例报告。总共确定了 22 篇出版物，共涉及 25 名患者，并进行了回顾；14 名患者具有正常女性核型（46,XX），11 名患者患有特纳综合征。
有多少患者在出现子宫缺失之前接受了足够的雌激素治疗。
在 25 名原发性性腺功能减退症患者中，有 22 名（88%）在出现子宫缺失之前接受了外源性雌激素治疗，包括 14 名核型正常的女性和 8 名特纳综合征患者。
雌激素缺乏可能是大多数患者在特纳综合征或原发性卵巢功能不全时被报告为中肾管发育不全的原因。在雌激素缺乏的情况下，在充分暴露于外源性雌激素并完成青春期诱导后，我们建议在达到完全成人剂量时，对子宫进行重新评估，直到达到完全成人剂量，才能对子宫的状况做出任何结论。
