Final answer:
Müllerian aplasia, or Mayer-Rokitansky-Küster-Hauser syndrome, is a congenital disorder affecting the reproductive system in females, specifically leading to underdevelopment or absence of the uterus and the upper vagina, with the individual maintaining a normal 46,XX karyotype and ovarian function.
Step-by-step explanation:
Müllerian Aplasia (Mayer-Rokitansky-Küster-Hauser Syndrome)
Müllerian aplasia, also known as Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, is a congenital disorder characterized by the underdevelopment or absence of the uterus and the upper part of the vagina in females with an otherwise normal development of secondary sexual characteristics and a normal 46,XX karyotype. This condition affects the reproductive structures while the ovaries remain normal, and individuals with MRKH syndrome usually have normal external genitalia.
This condition is a result of the improper development of the Müllerian ducts during embryogenesis, which are the precursors to the female reproductive tract. Women with MRKH typically discover the condition during adolescence due to the absence of menstruation (amenorrhea) or inability to conceive. Although MRKH is not typically associated with chromosomal abnormalities like those that lead to Cri-du-chat syndrome or trisomies, it underscores the complexity of reproductive development and organogenesis.