Lehigh Valley Health Network LVHN Scholarly Works

Department of Obstetrics & Gynecology

Rare Diagnosis of Vaginal Atresia in a Patient with VATER Syndrome and Primary Doreen Kyere MD, MPH Lehigh Valley Health Network

Rochelle Steiner-Friel MD Lehigh Valley Health Network, [email protected]

Sarah Stevens MD, MPH Lehigh Valley Health Network, [email protected]

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Published In/Presented At Kyere, D., Steiner-Friel, R., & Stevens, S. (2010). Rare Diagnosis of Vaginal Atresia in a Patient with VATER Syndrome and Primary Amenorrhea. LVHN Scholarly Works. Retrieved from http://scholarlyworks.lvhn.org/obstetrics-gynecology/25

This Poster is brought to you for free and open access by LVHN Scholarly Works. It has been accepted for inclusion in LVHN Scholarly Works by an authorized administrator. For more information, please contact [email protected]. Rare Diagnosis of Vaginal Atresia in a Patient with VATER Syndrome and Primary Amenorrhea Doreen Kyere, MD, MPH; Rochelle Steiner-Friel, MD; Sarah Stevens, MD, MPH Lehigh Valley Health Network, Allentown, Pennsylvania

Objective Laboratory and Diagnostic Evaluation Final Diagnosis and Management This case presents the evaluation of amenorrhea in an adolescent patient • Prolactin 104.8 ng/ml • Estradiol - 73 pg/ml Vaginal Atresia Referral to university-based with VATER/VACTERL syndrome. • Testosterone 93ng/dl • DHEAS - 221 mg/dL fertility center Background • LH - 7.6 mIU/ml • Brain MRI - no intracranial lesions • Occurs 1 in 5,000-10,000 females • Surgical correction of obstruction • FSH - 5.7 mIU/ml • Renal US - within normal limits • Frequently associated with Mayer • Operative findings Congenital abnormalities of the female reproductive organs account for • TSH - 2.67 uU/ml • Pelvic US: -Rokitansky -Kuster-Hauser - Blind vaginal introitus with approximately 20% of cases of primary amenorrhea. occluded and dilated upper -  4.4 x1.9x4.2cm (MRKH) syndrome: absent uterus, a deformed or missing vagina, approximately 6-8cm from the normal and normal external introitus; genitalia - Normal uterus, left and tube; Initial Diagnosis and Management - Surgically absent right ovary; Pituitary Disease • Can be associated with Winter Most Common Etiologies of Trans or im perforate • Primary amenorrhea secondary • Discontinue Reglan - Dilated right tube; and hym en syndrome, which is characterized Absence of uterus, cervix, and/or to: - Endometriosis Primary Amenorrhea vagina, m ullerian agenesis • Recheck prolactin level after two by renal agenesis and deafness Hypothalam ic - Hyperprolactinemia from chornic use months Chrom osom al abnorm alities causing of Reglan • Identified during adolescence gonodal dysgenesis - 6.5 ng/ml - Polycystic ovarian syndrome when cyclic pain and a lack of menstrual flow indicates the 6 weeks later... condition. Patient presented to the Emergency Department with severe lower Management A 14 year old female presents for abdominal pain, worse in the right lower quadrant. A CT scan of the abdomen and pelvis showed the uterus and vagina to be distended A patent and functional vagina was formed by creating a space between evaluation of primary amenorrhea with fluid suggestive of hydrometrocolpos. Left ovarian follicles were the bladder and rectum. The distended upper vagina was mobilized and also visualized. The patient was then taken to O.R. for an exam under attached to the introitus. The patient was subsequently instructed on the anesthesia. use of vaginal dilators and placed on a continuous Orth-Evra patch. • PMH: • Medications: Reglan TID - VATER syndrome • Physical Exam Discussion - Severe GERD Exam Under Anesthesia Pelvic MRI - BMI 30 Primary amenorrhea in an adolescent can be a diagnostic challenge. The - Chronic headaches - Acanthosis nigricans differential diagnosis is long and includes disorders of the hypothalamus, • PGyn: - Acne pituitary, thyroid and adrenal glands, ovarian failure, PCOS, and pregnancy. - Thelarche/pubarche age 10.5 - Hursutism This case shows that a complete and timely physical examination is even - Denied cyclical abdominal pain - Tanner Stage IV breast and genital more pertinent in the evaluation of primary amenorrhea, particularly when development there is a history of congenital anomalies or birth defects. We would • PSHx: - Vaginal introitus not clearly visualized. also recommend that pediatricians continue to include external genital - Repair of tracheo-esophagal fistula Patient did not tolerate exam Figure 1. Intraoperative findings from exam under Figure 2. MRI showing with right- anesthesia. A Foley catheter is placed in the sided hematosalpinx and an atretic or hypoplastic examinations as a routine part of the pediatric physical assessment. - Surgical correction of VSD and PDA urethra, which was placed lower than expected. vagina with fluid distending the cervix and uterine - Multiple esophageal dilitations Findings showed a normal clitoris and clitoral hood, canal. but there was no vaginal opening between the - Correction of anal atresia urethra and anus. The anal orifice was enlarged. Recto-vaginal exam revealed slightly enlarged - Laparoscopic right oophorectomy uterus with no apparent vaginal mass. for teratoma