Location
Suwanee, GA
Start Date
17-4-2026 12:00 PM
End Date
17-4-2026 1:00 PM
Description
Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome and androgen insensitivity syndrome (AIS) are two distinct disorders of sexual development that can present with similar clinical features, including primary amenorrhea, an absent uterus, and typical female external genitalia.
We present the case of a 27-year-old female who died following a motor vehicle accident and was found to have congenital absence of the uterus, cervix, and upper vagina, consistent with MRKH syndrome. MRKH occurs in phenotypic females with normal ovarian function, whereas AIS presents similarly but occurs in genotypic males with absent Müllerian structures and no ovaries.
This case was identified incidentally during an autopsy at Dekalb Medical Examiner’s Office. A focused review of the literature on Müllerian agenesis, MRKH syndrome, and complete and partial androgen insensitivity syndrome (AIS) was performed to compare distinguishing anatomic and clinical features. Gross examination revealed absence of the uterus and cervix, with bilateral absence of the fallopian tubes. The vaginal canal terminated in a blind pouch measuring 7.0 × 6.0 cm with a depth of 4 cm. Both ovaries were present but positioned high near the iliac vessels. The right kidney, including its ureter and hilar vessels, was absent, while the left kidney was present and mildly enlarged. The adrenal glands were grossly unremarkable, and no testes were identified.
The constellation of absent Müllerian structures, unilateral renal agenesis, and bilaterally ascended ovaries is consistent with a congenital disorder of MRKH syndrome. Although genetic testing was not available at the time of autopsy, the anatomic findings favored a diagnosis within the MRKH spectrum rather than AIS, given the presence of bilateral ovaries and absence of testicular tissue and androgen-dependent secondary sexual characteristics.
Recognition of these findings in a reproductive-age female identified at autopsy contributes to improved understanding of congenital reproductive tract anomalies. This highlights the importance of careful anatomic evaluation of disorders of sexual development and the possible differential diagnoses.
Embargo Period
6-2-2026
Included in
A Rare Case of Suspected Mayer-Rokitansky-Küster-Hauser Syndrome: A Comparative Review of Androgen Insensitivity Syndrome
Suwanee, GA
Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome and androgen insensitivity syndrome (AIS) are two distinct disorders of sexual development that can present with similar clinical features, including primary amenorrhea, an absent uterus, and typical female external genitalia.
We present the case of a 27-year-old female who died following a motor vehicle accident and was found to have congenital absence of the uterus, cervix, and upper vagina, consistent with MRKH syndrome. MRKH occurs in phenotypic females with normal ovarian function, whereas AIS presents similarly but occurs in genotypic males with absent Müllerian structures and no ovaries.
This case was identified incidentally during an autopsy at Dekalb Medical Examiner’s Office. A focused review of the literature on Müllerian agenesis, MRKH syndrome, and complete and partial androgen insensitivity syndrome (AIS) was performed to compare distinguishing anatomic and clinical features. Gross examination revealed absence of the uterus and cervix, with bilateral absence of the fallopian tubes. The vaginal canal terminated in a blind pouch measuring 7.0 × 6.0 cm with a depth of 4 cm. Both ovaries were present but positioned high near the iliac vessels. The right kidney, including its ureter and hilar vessels, was absent, while the left kidney was present and mildly enlarged. The adrenal glands were grossly unremarkable, and no testes were identified.
The constellation of absent Müllerian structures, unilateral renal agenesis, and bilaterally ascended ovaries is consistent with a congenital disorder of MRKH syndrome. Although genetic testing was not available at the time of autopsy, the anatomic findings favored a diagnosis within the MRKH spectrum rather than AIS, given the presence of bilateral ovaries and absence of testicular tissue and androgen-dependent secondary sexual characteristics.
Recognition of these findings in a reproductive-age female identified at autopsy contributes to improved understanding of congenital reproductive tract anomalies. This highlights the importance of careful anatomic evaluation of disorders of sexual development and the possible differential diagnoses.