Patient: [Patient Name]
MRN: [Medical Record Number]
Date: [Date of Encounter]
Chief Complaint:
New or established diagnosis of Müllerian agenesis (MA)
(Specify) Primary presenting complaint may vary depending on age:
Absent menstruation (primary amenorrhea) in adolescents
Difficulty getting pregnant (primary infertility) in young adults
Pelvic pain or urinary tract symptoms (less common)
History of Present Illness:
Age at diagnosis (if applicable)
For adolescents with primary amenorrhea:
Age at expected menarche (first period)
Development of secondary sexual characteristics (breast development, pubic hair)
Emotional distress related to absent periods
Past Medical History:
History of surgeries or pelvic procedures (may suggest potential cause for MA)
Family history of MA or other congenital anomalies
Medications:
List all current medications, including hormonal therapy (if applicable)
Social History:
Sexual history (important for infertility evaluation)
Partner information (relevant for infertility workup)
Family History:
Family history of MA in first-degree relatives (mothers, sisters)
History of other congenital malformations in the family
Physical Exam:
General examination: Assess for signs of hormonal deficiency (delayed puberty, lack of secondary sexual characteristics).
Breast examination: Assess for breast development.
Pelvic examination:
External genitalia: Normal appearance expected.
Internal genitalia (performed with patient’s consent):
Vagina may be present (variable length and depth)
Cervix and uterus absent on palpation
Ovaries may or may not be palpable depending on the type of MA
Imaging Studies:
Ultrasound: First-line imaging to assess the absence of the uterus and ovaries.
May be performed transabdominally or transvaginally.
Pelvic MRI (Magnetic Resonance Imaging): May be used for confirmation, especially if ultrasound findings are unclear.
Genetic Testing:
Karyotyping (chromosome analysis): May be considered to rule out chromosomal abnormalities associated with MA.
Targeted gene sequencing: May be offered in some cases to identify specific genetic mutations linked to MA.
Assessment:
Müllerian agenesis: Based on clinical presentation (absent periods, infertility) and imaging findings (ultrasound or MRI) demonstrating the absence of the uterus and ovaries.
Type of MA: Categorized based on the extent of the developmental defect:
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: Most common type, uterus and cervix absent, ovaries usually present.
Vaginal agenesis (VA): Absence of the vagina in addition to the uterus and cervix.
Uterine agenesis (UA): Absence of the uterus only, with cervix and ovaries present.
Differential Diagnoses:
Consider other conditions that can cause absent periods or infertility:
Primary ovarian insufficiency (POI)
Hypothalamic amenorrhea (due to hormonal imbalances)
Congenital anomalies of the reproductive tract (septum, hymenal atresia)
Plan:
Management depends on the patient’s age, concerns, and desired outcomes:
Adolescents with primary amenorrhea:
Address emotional concerns and provide reassurance.
Initiate hormonal therapy with estrogen and progesterone to promote secondary sexual development and prevent osteoporosis.
Discuss future fertility options (egg donation with surrogacy).
Young adults with primary infertility:
Explain the diagnosis and limited fertility potential due to the absence of the uterus.
Explore assisted reproductive technologies (ART) using donor eggs and surrogacy.
Consider psychological counseling to cope with infertility.
Pelvic pain or urinary symptoms: May require further evaluation and management by a urologist.
Referral: Consider referral to a gynecologist specializing in reproductive endocrinology and infertility for comprehensive evaluation and management. Genetic counseling may be recommended for patients desiring a more in-depth analysis of potential genetic causes.
Follow-up:
Schedule regular follow-up visits for monitoring hormonal therapy and addressing any new concerns.
Education:
Educate the patient about MA, the different types, and the impact on menstruation and fertility.
Discuss hormonal therapy and its benefits.
Provide information about assisted reproductive technologies (ART) as a potential option for future childbearing.
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