Knowra Müllerian agenesis Müllerian agenesis Müllerian agenesis is a congenital condition in which the uterus and upper vagina are absent or underdeveloped, usually with normal ovaries and external genitalia.
Paramesonephric duct : An embryonic duct that develops into the uterus, fallopian tubes, cervix, and upper vagina. Failure of its development or persistence underlies the reproductive-tract differences in this condition.
WNT4 : A signaling protein involved in ovarian development and formation of the female reproductive tract. Variants in WNT4 can cause a rare form of Müllerian agenesis with androgen excess.
Primary amenorrhea : The absence of a first menstrual period by the expected age, requiring evaluation for underlying causes. It is a common reason the condition is first investigated.
MURCS association : A pattern of Müllerian duct aplasia, renal anomalies, and cervicothoracic somite abnormalities. It describes a subset with characteristic reproductive, kidney, and skeletal findings.
Müllerian ducts : Paired embryonic ducts that form much of the female reproductive tract. Müllerian agenesis is a disorder of structures derived from these ducts.
HNF1B : A transcription factor gene involved in organ development, including the kidneys and reproductive tract. HNF1B variants have been associated with some cases and may link reproductive and renal findings.
Pelvic ultrasonography : Imaging that uses sound waves to examine pelvic organs. It can assess uterine anatomy and locate ovaries during initial evaluation.
Unilateral renal agenesis : A congenital condition in which one kidney does not develop. Renal anomalies, including a missing kidney, occur more often alongside Müllerian agenesis.
Urogenital sinus : An embryonic structure that contributes to the lower vagina and parts of the urinary and reproductive systems. Its contribution helps explain why the lower vagina can be present despite upper-vaginal agenesis.
LIM1 : A developmental transcription factor encoded by LHX1 that contributes to formation of the reproductive tract. LHX1 variants have been identified in a subset of people with Müllerian agenesis.
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