What are the typical clinical presentations of Mullerian (Mullerian Duct) agenesis?

Müllerian Agenesis: Clinical Presentation

Müllerian agenesis typically presents as primary amenorrhea in adolescent females who otherwise demonstrate normal growth and pubertal development. 1, 2

Primary Clinical Features

Menstrual History

• Primary amenorrhea is the hallmark presentation, occurring in patients who have never menstruated despite reaching appropriate age 1, 2, 3
• Patients are typically evaluated around age 15-16 years when absence of menses becomes clinically apparent 1

Physical Examination Findings

• Normal secondary sexual characteristics including breast development (normal Tanner staging) 1, 2, 3
• Normal external genitalia with typical pubertal development 1, 2
• Absent or shortened vagina on pelvic examination—the vaginal canal is typically absent or represents only a shallow dimple 1, 3
• Normal height and body habitus consistent with typical female development 2, 3

Hormonal Profile

• Normal karyotype (46,XX) distinguishing this from androgen insensitivity syndrome 3
• Normal ovarian function with appropriate estrogen production, explaining the normal pubertal development 3
• Normal follicle-stimulating hormone (FSH), luteinizing hormone (LH), and estradiol levels 3

Associated Congenital Anomalies

Renal Abnormalities

• Renal anomalies occur in a significant proportion of patients and must be systematically evaluated 1, 2, 4
• These may include unilateral renal agenesis, ectopic kidney, or other structural renal malformations 5

Skeletal Abnormalities

• Skeletal anomalies may be present, particularly in MRKH syndrome type II (MURCS association) 5
• Cervicothoracic somite anomalies can occur 5

Classification Types

• Type I (isolated): Isolated absence of the upper 2/3 of vagina and uterus without other anomalies 5
• Type II (MURCS): Müllerian duct aplasia associated with unilateral renal agenesis and cervicothoracic somite anomalies 5

Diagnostic Considerations

Key Distinguishing Features

• The combination of primary amenorrhea WITH normal pubertal development is pathognomonic and distinguishes müllerian agenesis from other causes of primary amenorrhea 1, 2
• Unlike gonadal dysgenesis (Turner syndrome), patients have normal breast development and estrogenization 3
• Unlike androgen insensitivity syndrome, patients have a 46,XX karyotype 3

Common Pitfalls

• Two-dimensional ultrasound is NOT reliable for diagnosis and should not be solely relied upon, as demonstrated in case reports 3
• The condition may be misdiagnosed if clinicians fail to perform adequate pelvic examination 3
• Failure to evaluate for associated renal and skeletal anomalies represents incomplete management 1, 4

Psychosocial Impact

The psychological impact of this diagnosis should never be underestimated and represents a critical component of clinical presentation 1, 2. Patients face:

• Distress regarding sexual function and inability to have vaginal intercourse 5
• Concerns about fertility and biological motherhood 1, 2
• Identity issues related to reproductive anatomy 5

All patients require counseling and should be connected with peer support groups as part of comprehensive management 1, 2.