The absence of both the uterus and breasts indicates which primary amenorrhea cause?

The absence of both the uterus and breasts in a patient with primary amenorrhea is indicative of a testosterone synthesis defect. In this condition, the body is unable to produce adequate levels of testosterone, which is critical for the development of male primary and secondary sexual characteristics. In genetic males (46,XY), testosterone is essential for the formation of internal and external male genitalia.

In cases of testosterone synthesis defects, patients may have XY chromosomes but present with phenotypically female characteristics, including the absence of a uterus and breasts, leading to primary amenorrhea. The presence of androgen insensitivity syndrome illustrates this situation, where individuals are genetically male (XY) but develop female external characteristics due to a lack of response to androgen hormones.

Other conditions, such as Mullerian agenesis and gonadal dysgenesis, are associated with primary amenorrhea but typically present different physical attributes. Mullerian agenesis specifically would show an absent uterus but usually would still have developed female secondary sexual characteristics. Gonadal dysgenesis would present with streak gonads and may or may not have normal external genitalia depending on the specific chromosomal makeup and development.

Understanding the specific cause of primary amenorrhea is essential for appropriate management and counseling of patients regarding their condition