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