Absence of uterine body

Absence of uterine body, also known as uterine agenesis or uterine aplasia, is a rare congenital malformation in which the body (corpus) of the uterus fails to develop during embryogenesis. This condition falls under the broader category of Müllerian duct anomalies, where the paramesonephric (Müllerian) ducts do not properly form or fuse during fetal development. It is classified under ICD-10 code Q51.0 (agenesis and aplasia of uterus). The condition primarily affects the female reproductive system and may occur in isolation or as part of a syndrome, most notably Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, in which uterine agenesis is accompanied by upper vaginal aplasia while ovarian function and external genitalia remain normal. Affected individuals typically have a 46,XX karyotype and normal secondary sexual characteristics, as ovarian function is usually preserved. The key clinical feature is primary amenorrhea (absence of menstruation), which is often the presenting complaint during adolescence. Infertility is a direct consequence of the absent uterine body, as there is no functional uterus to support pregnancy. In some cases, associated anomalies of the renal system (such as unilateral renal agenesis or ectopic kidney) and skeletal system may be present, particularly when the condition occurs as part of MRKH syndrome. Currently, there is no way to restore a naturally absent uterus through conventional treatment. Management focuses on addressing the psychological impact of the diagnosis and enabling sexual function. Vaginal dilation therapy or surgical vaginoplasty (such as the Vecchietti or McIndoe procedures) may be offered when vaginal hypoplasia is also present. In recent years, uterine transplantation has emerged as an experimental but increasingly successful option for achieving pregnancy in affected women. Gestational surrogacy remains another reproductive option. Psychological support and genetic counseling are important components of comprehensive care.

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