A patient presents with primary amenorrhea. On examination, she has normal breast and pubic hair development but no visible vagina. Which of the following is the most probable diagnosis?
Mullerian agenesis is a disorder of genital development characterized by absence of the vagina, an absent or hypoplastic uterus, and normal or hypoplastic fallopian tubes.Typically, the ovaries are entirely normal. Patients with mullerian agenesis typically present in late adolescence or as young adults with primary amenorrhea, exhibiting normal breast and pubic hair development and no visible vagina. Affected patients often also have urologic anomalies (unilateral renal agenesis, ectopic or horseshoe kidney, and duplication of the collecting systems) and skeletal malformations (e.g., hemiveebrae and scoliosis, or the Klippel-Feil syndrome, which includes a sho neck, low hairline, limited range of motion, and neurologic symptoms, resulting from one or more fused veebrae).Reference: Clinical gynecologic endocrinology; 10th edition; Chapter 9; Normal and Abnormal Sexual Development; Page no: 364
Turner's syndrome
Androgen insensitivity syndrome
Mullerian agenesis
Swyer syndrome
Sexuality and intersexuality