Primary Amenorrhea in a Patient with Congenital Anomalies of the Kidney and Urinary Tract (CAKUT): Unmasking Atypical MRKH Syndrome Type II
https://doi.org/10.15605/jafes.041.S1
- Author:
Dameil Saw Kah Kheng
1
Author Information
1. Hospital Queen Elizabeth II
- Publication Type:Journal Article
- MeSH:
Female;
Cakut;
Mullerian aplasia;
Amenorrhea;
Urinary Tract;
Kidney
- From:
Journal of the ASEAN Federation of Endocrine Societies
2026;41(S1):101-102
- CountryPhilippines
- Language:English
-
Abstract:
Introduction:Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome
is characterized by congenital agenesis or hypoplasia of
the uterus and upper vagina in phenotypic females with
normal secondary sexual characteristics and a 46,XX
karyotype. Atypical MRKH syndrome, or MRKH type
II, is associated with extragenital anomalies, particularly
renal abnormalities. Its diagnosis may be delayed when
overshadowed by complex medical comorbidities.
Case:A 19-year-old phenotypic female with CAKUT, complicated
by right duplex kidney and end-stage renal failure on
continuous ambulatory peritoneal dialysis, was admitted
in September 2025 for peritonitis. Further history revealed
primary amenorrhea. Physical examination demonstrated
preserved pubertal development with Tanner stage III
pubic hair and at least Tanner stage IV breast development.
Hormonal profile was unremarkable, and chromosomal
analysis showed a normal female karyotype (46,XX). Pelvic
ultrasonography and computed tomography of the thorax,
abdomen, and pelvis demonstrated uterine agenesis. In
addition, bilateral oval-shaped heterogeneous soft tissue
masses were identified within the paracolic gutters;
ultrasonography showed multiple cysts within both masses, and each was associated with a gonadal vein, suggestive
of bilateral ectopic gonadal structures on imaging. These
findings were consistent with atypical MRKH syndrome
type II in the context of underlying renal anomalies.
Conclusion:This case highlights the importance of evaluating primary
amenorrhea even in patients with significant chronic illness.
In phenotypic females with CAKUT, associated Müllerian
anomalies should be actively considered. Atypical MRKH
syndrome type II should be recognized early to enable
accurate diagnosis, multidisciplinary follow-up, and
appropriate reproductive and psychosocial counseling.
- Full text:2026080416462827830EP_A147.pdf
