Obgyn · Year 3 · from Obgyn

Case 3: Primary Amenorrhea with Absent Uterus

Patient Demographics

• Age: 17 years
• Sex: Female
• Occupation: High school student

Chief Complaint

"I still haven't gotten my period and all my friends have."

History of Present Illness

The patient is a 17-year-old who has never menstruated. She is concerned because her friends all started their periods between ages 11-14. She has normal breast development and pubic hair. She has never been sexually active. She denies pelvic pain (no cyclical pain). She is otherwise healthy with no chronic medical conditions.

Definition of Primary Amenorrhea

• Absence of menses by age 15 in the presence of secondary sexual characteristics: MEETS CRITERIA
• (OR absence by age 13 without secondary sexual characteristics)

Developmental History

• Breast development began at age 11 (Tanner stage 4 currently)
• Pubic hair development began at age 12 (Tanner stage 4)
• Growth: Normal height (5'7"), appropriate for family
• No cyclical pain (rules out outflow obstruction with accumulated blood)

Family History

• Mother: Menarche at age 13
• Sister: Menarche at age 12
• No family history of infertility or amenorrhea

Physical Examination

• Height: 5'7" (170 cm)
• Weight: 135 lbs (61 kg)
• BMI: 21.2 kg/m2
• General: Healthy-appearing adolescent female
• Breast Development: Tanner stage 4 (normal)
• Pubic Hair: Tanner stage 4 (normal)
• External Genitalia: Normal female external genitalia
• Vaginal Examination: Blind-ending vaginal pouch, approximately 2 cm depth; no cervix visualized

Initial Assessment

Normal secondary sexual characteristics with absent vagina/cervix:

• Differential includes:
• Mullerian agenesis (Mayer-Rokitansky-Kuster-Hauser syndrome)
• Complete androgen insensitivity syndrome (46,XY)

Diagnostic Workup

Laboratory Studies:

Karyotype: 46,XX (normal female)

Pelvic Ultrasound:

• Uterus: Not visualized
• Ovaries: Bilateral normal-appearing ovaries identified
• No hematocolpos or hematometra

Pelvic MRI (Confirmatory):

• Uterus: Absent
• Cervix: Absent
• Upper 2/3 vagina: Absent (consistent with blind-ending pouch on exam)
• Ovaries: Normal bilaterally
• Kidneys: Normal bilaterally (no renal anomalies)

Diagnosis

Mullerian Agenesis (Mayer-Rokitansky-Kuster-Hauser Syndrome)

• 46,XX karyotype
• Normal ovarian function (normal estrogen, normal secondary sexual characteristics)
• Congenital absence of uterus, cervix, and upper vagina
• Normal external genitalia

Why Not Androgen Insensitivity?

• 46,XX karyotype (AIS would have 46,XY)
• Normal testosterone for female (AIS would have male testosterone levels)
• Presence of pubic hair (AIS patients have sparse/absent pubic hair)

Multidisciplinary Care

Counseling:

• Sensitive discussion with patient (and parents if patient desires)
• She has normal female chromosomes and normal ovaries
• She will not have periods and cannot carry a pregnancy
• Biological children are possible via gestational surrogacy using her oocytes
• Creation of functional vagina possible for sexual activity

Treatment Options:

First-line: Vaginal Dilation Therapy

• Progressive self-dilation using dilators
• 85-90% success rate in creating functional vagina
• Non-surgical, can be done at home
• Requires motivation and time (typically 6-12 months)

Second-line: Surgical Vaginoplasty

• McIndoe procedure or other surgical techniques
• Reserved for failed dilation therapy

Psychological Support:

• Referral to counselor specializing in DSD/reproductive differences
• Support groups for women with MRKH syndrome
• Address grief around infertility, identity, and relationships

Associated Evaluations

• Renal ultrasound: Normal (25-30% have renal anomalies)
• Spine evaluation: No skeletal anomalies
• Audiology: Normal hearing

Long-term Follow-up

• Annual gynecologic exam
• Bone density monitoring (normal given functioning ovaries producing estrogen)
• Fertility counseling when appropriate
• Continued psychological support

Patient Outcome

• Successfully created functional vagina with dilation therapy over 9 months
• Engaged with MRKH support community
• Coping well with diagnosis

Clinical Image

Image Description: Sagittal MRI of the pelvis demonstrating absence of the uterus in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome. The bladder is visualized anteriorly and the rectum posteriorly, with no uterine structure between them. Normal ovaries are visible on axial images.

Attribution: Image from Radiopaedia. Case courtesy of Dr. Frank Gaillard. Licensed under CC BY-NC-SA 3.0. Source: https://radiopaedia.org/cases/mayer-rokitansky-kuster-hauser-syndrome

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