Key content
In Mayer–Rokitansky–Küster–Hauser syndrome (müllerian agenesis) there is congenital absence of the upper two‐thirds of the vagina and the uterus is absent or rudimentary.
A common presentation is primary amenorrhoea in a female with 46,XX karyotype and normal secondary sexual characteristics.
There may be associated abnormalities of the kidneys, skeletal system, heart and auditory system.
Magnetic resonance imaging is a useful diagnostic tool with which to assess the anatomical abnormalities.
Management involves psychological support and creation of a neovagina for sexual function.
Objectives
To understand the anatomical abnormalities of this entity.
To learn about the clinical presentation and differential diagnosis.
To understand the management issues.
Ethical issues
If, in the future, uterine transplantation becomes safe and effective, will it be ethical for a woman to donate her uterus to her daughter?
With many children awaiting adoption, should women with Mayer–Rokitansky–Küster–Hauser syndrome be encouraged to adopt rather than undergo surrogacy?
Who should pay for assisted reproduction treatment, given the constraints of health service budgets?
Should women with Mayer–Rokitansky–Küster–Hauser syndrome be managed in selected centres of excellence?
All-trans-retinoic acid (ATRA) has been proved to be an effective treatment for acute promyelocytic leukemia (APL), inducing remission in more than 90% of cases. Treatment of APL in pregnancy is controversial as the use of ATRA has been questioned due to the teratogenic effect of retinoids. We report a case of pregnancy in a woman exposed to ATRA during the first trimester. The baby was born healthy, without any anomalies. Review of all reported cases of the use of ATRA in pregnancy revealed no serious adverse outcomes or congenital anomalies although only very few cases had exposure in the first trimester.
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