• Journal of Veterinary Clinics
• /
• v.35 no.6
• /
• pp.279-281
• /
• 2018

This report describes a case of newly recognized congenital $M{\ddot{u}}llerian$ duct anomaly in a bitch. A fourteen-year-old, mixed breed bitch was presented with mild hematuria and mammary gland tumor. Complementary examinations were performed and abdominal ultrasonography revealed distended uterine horns and uterine tumor-like mass around the right ovarian area. Macroscopic examination showed the mass to be on the level of insertion of the right round ligament. The mass was cystic in nature, and had no communication with the uterine cavity. Histopathologically, the mass was identified as an accessory cavity lined by functional endometrium, which confirmed the diagnosis of accessory and cavitated uterine mass.

• Childhood Kidney Diseases
• /
• v.22 no.1
• /
• pp.12-16
• /
• 2018

Herlyn-Werner-Wunderlich (HWW) syndrome is a rare congenital malformation syndrome that is characterized by a triad of uterine didelphys, blind hemivagina, and ipsilateral renal agenesis. There is a wide variety of phenotypic presentation which is recognized as a spectrum of disease rather than a separate entity. The exact incidence and pathogenesis of HWW syndrome are yet to be investigated. While this disease typically involves adolescent girls who present with abdominal pain or a pelvic mass that is secondary to hematocolpos, nowadays, a majority of potential patients with HWW are being prenatally screened for renal anomalies. Therefore, it is recommended to search for uterovaginal anomalies whenever a multicystic dysplastic kidney or the absence of a kidney is noted in a newborn female, and the role of pediatric nephrologists has become ever more important for early recognition of the disease.

• Investigative Magnetic Resonance Imaging
• /
• v.19 no.3
• /
• pp.196-199
• /
• 2015

Obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) syndrome is an uncommon congenital abnormality of the female urogenital tract characterized by the triad of uterine didelphys, obstructed hemivagina, and ipsilateral renal agenesis. A 13-year-old female presented with acute lower abdominal pain. Magnetic resonance imaging (MRI) revealed uterine didelphys, hematometrocolpos, obstructed hemivagina, and right ipsilateral agenesis, consistent with OHVIRA syndrome. Also, a well-defined mass with fluid signal intensity, mimicking adnexal neoplasm was seen in the right lower pelvic cavity adjacent to the posterior wall of the bladder. Vaginal septotomy and drainage of hematometrocolpos were done initially, but unilateral hysterectomy was later performed to relieve the patient's symptoms. The cystic mass in the right lower pelvic cavity was also excised and confirmed as a blind megaureter.

• Investigative Magnetic Resonance Imaging
• /
• v.14 no.1
• /
• pp.1-9
• /
• 2010

Although ultrasonography is the most commonly used first-line imaging modality of the female pelvis because of diagnostic accuracy, low cost and safety, MRI is the best imaging modality of choice for the evaluation of the female pelvis. The indication of female pelvis MRI is diverse and includes the evaluation of M$\ddot{u}$llerian duct anomaly, differential diagnosis and characterization of uterine and ovarian tumors, and staging of malignant uterine and ovarian tumors. Understanding of MR protocols according to the specific gynecologic pathology allows accurate diagnosis and proper patient management.

• Annals of Pediatric Endocrinology and Metabolism
• /
• v.23 no.4
• /
• pp.220-225
• /
• 2018

Androgen insensitivity syndrome (AIS) is a rare genetic disease caused by various abnormalities in the androgen receptor (AR). The AR is an essential steroid hormone receptor that plays a critical role in male sexual differentiation and development and preservation of the male phenotype. Mutations in the AR gene on the X chromosome cause malfunction of the AR so that a 46,XY karyotype male has some physical characteristics of a woman or a full female phenotype. Depending on the phenotype, AIS can be classified as complete, partial or mild. Here, we report 2 cases of complete AIS in young children who showed complete sex reversal from male to female as a result of AR mutations. They had palpable inguinal masses and normal female external genitalia, a blind-end vagina and absent $M{\ddot{u}}llerian$ duct derivatives. They were both 46,XY karyotype and AR gene analysis demonstrated pathologic mutations in both. Because AIS is inherited in an X-linked recessive manner, we performed genetic analysis of the female family members of each patient and found the same mutation in the mothers of both patients and in the female sibling of case 2. Gonadectomy was performed in both patients to avoid the risk of malignancy in the undescended testicles, and estrogen replacement therapy is planned for their adolescence. Individuals with complete AIS are usually raised as females and need appropriate care.