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.
Female ; Cakut ; Mullerian aplasia ; Amenorrhea ; Urinary Tract ; Kidney

In Mayer-Rokitansky-K0ster-Hauser (MRKH) syndrome, the development of the uterus and some parts of the vagina is either completely absent or reduced. It is a rare congenital anomaly, and affects one in 4,000-5,000 female births and commonly presents as primary amenorrhea. Approximately 6% - 10% of these patients with MRKH syndrome report persistent pelvic pain, which may be attributed to the presence of myomas, endometriosis, adenomyosis or hematometra caused by a functioning endometrial tissue in a uterine remnant. This paper presents the case of a 37 year old nulligravid who experienced severe cyclic hypogastric pain, and was subsequently diagnosed with MRKH syndrome with adenomyosis. Clinical evaluation and definitive management of the index case are discussed.
Human ; Female ; Adult: 25-44 yrs old ; mullerian failure ; mullerian aplasia ; adenomyosis ; pelvin pain

Turner syndrome and Mayer-Rokitansky-Kuster-Hauser syndrome are the most common causes of primary amenorrhea. However, mullerian agenesis in patients with Turner syndrome is rare, with only 15 reported cases worldwide. Described in this report is an 18-year-old female who presented with primary amenorrhea, absent secondary sexual characteristics, short stature, webbed neck, and shield chest. Work up revealed hypergonadotropic hypogonadism, absence of normal ovaries and uterus, and hypothyroidism. She had a 45,X karyotype and was diagnosed with a very rare case of Turner syndrome with associated Mayer-Rokitansky-Kuster-Hauser syndrome. Early detection of the etiology of amenorrhea is critical for prompt management and initiation of hormonal replacement. She was counseled on the possible systemic problems associated with her condition. The importance of regular follow-up and continuous care were also emphasized. With the coexistence of these two conditions, adoption is the only option for having children in the Philippines, where oocyte donation and uterine transplantation are currently unavailable.
Turner Syndrome ; Mullerian aplasia

Herlyn-Werner-Wunderlich syndrome, characterized by uterus didelphys with blind hemivagina and ipsilateral renal agenesis, is a rare Mullerian duct anomaly. This case series shows a wide spectrum of the condition, one presenting in an adolescent, managed conservatively and the other in the perimenopausal age group given a more definitive management. The first case is an 18-year- old nulligravid who manifested with progressive dysmenorrhea and foul smelling vaginal discharge a few years after menarche. She subsequently underwent vaginal septotomy followed by diagnostic hysteroscopy. On the other hand, the second case is a 46- year-old nulligravid whose chief complaint is a foul smelling vaginal discharge and consequently went through a total abdominal hysterectomy with salpingo-oophorectomy. To our knowledge, the second case is the only patient diagnosed in the perimenopausal stage and underwent a total hysterectomy. Ultrasound is the first-line imaging modality used in both cases and its merits are highlighted to prove its importance and diagnostic value in the workup of this condition.
Mullerian aplasia ; Mullerian Ducts ; Urogenital Abnormalities

Amenorrhea is one of the most taxing cases in the field of gynecologic endocrinology. Turner's and Mayer-Rokitansky-Kuster-Hauser Syndromes are the two most common separate causes of primary amenorrhea worldwide. Presented here is a rare case of an 18-year old female with Turner's Syndrome and concomitant Mayer-Rokitansky-Kuster-Hauser Syndrome. The worldwide incidence of both syndromes occurring simultaneously in an individual is 1 in 15,000,000 livebirths. The index patient presents with primary amenorrhea and chromosomal analysis revealed 45,X. Transrectal ultrasound noted absence of both the uterus and the ovaries. Early detection of this rare case is important for the initiation of hormone replacement therapy. Adoption is the only option to have a child since Assisted Reproductive Technique (ART) by means of in-vitro fertilization is not applicable for patients with both of these syndromes. Parents and children must be educated regarding the limitations of current knowledge about the management of both Turner's and Mayer-Rokitansky-Kuster-Hauser Syndromes and must be given realistic expectations with respect to sexual functionand social acceptance.

Human ; Female ; Adolescent ; Ovary ; Amenorrhea ; Mullerian Aplasia ; Turner Syndrome ; Uterus ; 46, Xx Disorders Of Sex Development ; Hormone Replacement Therapy ; Fertilization In Vitro ; Reproductive Techniques, Assisted ; Parents