Kyere, Doreen, MD, MPH

Steiner-Friel, Rochelle, MD

Stevens, Sarah, MD, MPH

English

Lehigh Valley Health Network: LVHN Scholarly Works

Lehigh Valley Health NetworkLVHN Scholarly WorksDepartment of Obstetrics & GynecologyRare Diagnosis of Vaginal Atresia in a Patient withVATER Syndrome and Primary AmenorrheaDoreen Kyere MD, MPHLehigh Valley Health NetworkRochelle Steiner-Friel MDLehigh Valley Health Network, Rochel.Steiner-Frield@lvhn.orgSarah Stevens MD, MPHLehigh Valley Health Network, Sarah.Stevens@lvhn.orgFollow this and additional works at: http://scholarlyworks.lvhn.org/obstetrics-gynecologyPart of the Obstetrics and Gynecology Commons, and the Pediatrics CommonsThis 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 anauthorized administrator. For more information, please contact LibraryServices@lvhn.org.Published In/Presented AtKyere, D., Steiner-Friel, R., & Stevens, S. (2010). Rare Diagnosis of Vaginal Atresia in a Patient with VATER Syndrome and PrimaryAmenorrhea. LVHN Scholarly Works. Retrieved from http://scholarlyworks.lvhn.org/obstetrics-gynecology/25Rare Diagnosis of Vaginal Atresia in a Patient with VATER Syndromeand Primary AmenorrheaLehigh Valley Health Network, Allentown, PennsylvaniaObjectiveDoreen Kyere, MD, MPH; Rochelle Steiner-Friel, MD; Sarah Stevens, MD, MPHThis case presents the evaluation of amenorrhea in an adolescent patient with VATER/VACTERL syndrome. Most Common Etiologies ofPrimary AmenorrheaA 14 year old female presents for evaluation of primary amenorrhea• PMH: 	 	 -	 	VATER	syndrome 	 	 -	 Severe	GERD 	 	 -	 	Chronic	headaches• PGyn: 	 	 -	 	Thelarche/pubarche	age	10.5 	 	 -	 Denied	cyclical	abdominal	pain• PSHx: 	 	 -	 	Repair	of	tracheo-esophagal	fistula 	 	 -	 Surgical	correction	of	VSD	and	PDA 	 	 -	 	Multiple	esophageal	dilitations 	 	 -	 Correction	of	anal	atresia 	 	 -	 	Laparoscopic	right	oophorectomy	for	teratomaFigure 1. Intraoperative findings from exam under anesthesia.  A Foley catheter is placed in the urethra, which was placed lower than expected.  Findings showed a normal clitoris and clitoral hood, but there was no vaginal opening between the urethra and anus.  The anal orifice was enlarged.  Recto-vaginal exam revealed slightly enlarged uterus with no apparent vaginal mass. BackgroundCongenital abnormalities of the female reproductive organs account for approximately 20% of cases of primary amenorrhea.  ManagementA patent and functional vagina was formed by creating a space between the bladder and rectum.  The distended upper vagina was mobilized and attached to the introitus.  The patient was subsequently instructed on the use of vaginal dilators and placed on a continuous Orth-Evra patch.DiscussionPrimary amenorrhea in an adolescent can be a diagnostic challenge.  The differential diagnosis is long and includes disorders of the hypothalamus, pituitary, thyroid and adrenal glands, ovarian failure, PCOS, and pregnancy. This case shows that a complete and timely physical examination is even more pertinent in the evaluation of primary amenorrhea, particularly when there is a history of congenital anomalies or birth defects. We would also recommend that pediatricians continue to include external genital examinations as a routine part of the pediatric physical assessment.   •  Medications: Reglan TID•  Physical Exam 	 	 -	 	BMI	30 	 	 -	 Acanthosis	nigricans 	 	 -	 	Acne 	 	 -	 Hursutism 	 	 -	 	Tanner	Stage	IV	breast	and	genital	development 	 	 -	 	Vaginal	introitus	not	clearly	visualized.	Patient	did	not	tolerate	examLaboratory and Diagnostic Evaluation• Prolactin 104.8 ng/ml• Testosterone 93ng/dl• LH - 7.6 mIU/ml• FSH - 5.7 mIU/ml• TSH - 2.67 uU/ml• Estradiol - 73 pg/ml• DHEAS - 221 mg/dL•  Brain MRI - no intracranial lesions•  Renal US - within normal limits•  Pelvic US: 	 	 -	 	uterus	4.4	x1.9x4.2cm Initial Diagnosis and Management•  Primary amenorrhea secondary to: 	 	 -	 	Hyperprolactinemia	from	chornic	use	of	Reglan 	 	 -	 	Polycystic	ovarian	syndrome• Discontinue Reglan•  Recheck prolactin level after two months 	 	 -	 	6.5	ng/ml6 weeks later...Patient presented to the Emergency Department with severe lower abdominal pain, worse in the right  lower quadrant.  A CT scan of the abdomen and pelvis showed the uterus and vagina to be distended with fluid suggestive of hydrometrocolpos.  Left ovarian follicles were also visualized. The patient was then taken to O.R. for an exam under anesthesia.Figure 2. MRI showing hematocolpos with right-sided hematosalpinx and an atretic or hypoplastic vagina with fluid distending the cervix and uterine canal.    Final Diagnosis and Management•  Occurs 1 in 5,000-10,000 females•  Frequently associated  with  Mayer -Rokitansky -Kuster-Hauser (MRKH) syndrome: absent uterus, a deformed or missing vagina, normal ovaries and normal external genitalia•  Can be associated with Winter syndrome, which is characterized by renal agenesis and deafness•  Identified during adolescence when cyclic pain and a lack of menstrual flow indicates the condition. • Surgical correction of obstruction•  Operative findings 	 	 -	 	Blind	vaginal	introitus	with	occluded	and	dilated	upper	vagina	approximately	6-8cm	from	the	introitus; 	 	 -	 	Normal	uterus,	left	ovary	and	tube; 	 	 -	 	Surgically	absent	right	ovary; 	 	 -	 Dilated	right	tube;	and 	 	 -	 EndometriosisVaginal Atresia Referral to university-basedfertility centerExam Under Anesthesia Pelvic MRIP itu ita ry D iseaseT rans Vagina l sep tum or im perfo ra tehym enA bsence of u te rus, ce rvix, and /o rvag ina , m u lle rian agenesisH ypo tha lam ic hypogonad ismC hrom osom al abnorm a lities causinggonoda l dysgenesis

Rare Diagnosis of Vaginal Atresia in a Patient with VATER Syndrome and Primary Amenorrhea

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Rare Diagnosis of Vaginal Atresia in a Patient with VATER Syndrome and Primary Amenorrhea

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