5  Secondary Amenorrhea

37

References

1.\ Reindollar RH, Novak M, Tho SP, McDonough PG. Adult-onset amenorrhea: a study of 262 patients. Am J Obstet Gynecol. 1986;155(3):531–43.

2.\ Roberts RE, Farahani L, Webber L, Jayasena C. Current understanding of hypothalamic amenorrhoea. Ther Adv Endocrinol Metab. 2020;11:2042018820945854.

3.\ Perkins RB, Hall JE, Martin KA. Aetiology, previous menstrual function and patterns of neuro-­ endocrine disturbance as prognostic indicators in hypothalamic amenorrhoea. Hum Reprod. 2001;16(10):2198–205.

4.\ Couzinet B, Young J, Brailly S, Le Bouc Y, Chanson P, Schaison G. Functional hypothalamic amenorrhoea: a partial and reversible gonadotrophin defciency of nutritional origin. Clin Endocrinol. 1999;50(2):229–35.

5.\ Klein DA, Paradise SL, Reeder RM. Amenorrhea: a systematic approach to diagnosis and management. Am Fam Physician. 2019;100(1):39–48.

6.\ Harrington BC, Jimerson M, Haxton C, Jimerson DC. Initial evaluation, diagnosis, and treatment of anorexia nervosa and bulimia nervosa. Am Fam Physician. 2015;91(1):46–52.

Chapter 6

Mullerian Anomaly

Samantha M. Pfeifer

Case

A 14-year-old female presents to the emergency room with severe pain that started with the onset of her menstrual cycle. She had menarche at age 13, and her menses have been occurring approximately every 5–6 weeks since then. Each time she has her menstrual cycle, she describes bleeding for 4–5 days with severe cramping located on the right side. Her dysmenorrhea has been increasing with each menstrual cycle. She started bleeding 2 days ago and is now writhing on the bed in severe right lower quadrant pain with some nausea. The pain radiates all over the right side. She is otherwise healthy. She had recurrent ear infections as a child, which have resolved. She is on no medications and has no allergies. She is in ninth grade and is doing well in school. Her mother reports that prenatal ultrasound during the pregnancy with SP revealed right renal agenesis. She denies renal or urinary issues. In the ER her vital signs are stable, and her abdomen is tender on the right with a mass noted in the right lower quadrant. Transabdominal ultrasound revealed a 14 × 8 cm uid-flled mass in the right lower quadrant.

Differential Diagnosis

The presenting symptom in this young female is dysmenorrhea that is increasing in severity. One would consider primary or secondary dysmenorrhea. However, her pain is not generalized as is seen with primary dysmenorrhea, but rather localized on the right side. In addition, her history is notable for congenital right renal agenesis. Congenital

S. M. Pfeifer (*)

Reproductive Medicine and Ob/Gyn, The Ronald Perelman and Claudia Cohen Center for Reproductive Medicine, Weill Medical College of Cornell University, New York, NY, USA e-mail: [e-mail]

© Springer Nature Switzerland AG 2023

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P. H. Chung, Z. Rosenwaks (eds.), Problem-Focused Reproductive Endocrinology and Infertility, Contemporary Endocrinology, https://doi.org/10.1007/978-3-031-19443-6_6

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40	S. M. Pfeifer
a	b

Fig. 6.1  (a) Uterus didelphys, obstructed right hemivagina. (b) Complete septate uterus with obstructed right hemivagina. (Figures from: Pfeifer SM, Attaran M, Goldstein J, Lindheim S, Petrozza J, Rackow B, Zuckerman A, Siegelman E, Troiano R, Winters T, Ramaiah SD. ASRM Mullerian anomalies classifcation 2021. Fertil Steril 2021;116:1238–52)

renal anomalies are seen in association with Mullerian anomalies. In particular, congenital renal agenesis is associated with ipsilateral obstructed Mullerian anomalies [1–3]. Ultrasound imaging in this patient shows a uid-flled mass in the right lower quadrant. Differential diagnosis of this mass includes a large right ovarian cyst, obstructed Mullerian anomaly including imperforate hymen, transverse vaginal septum, cervical agenesis, and obstructed hemivagina associated with uterus didelphys or obstructed right uterine horn. Given that this patient has been experiencing menstrual bleeding, complete obstructive anomalies such as imperforate hymen, transverse vaginal septum, and cervical agenesis are excluded. The increasingly severe right-sided dysmenorrhea, right renal agenesis, and imaging showing a large cystic mass are most consistent with obstructed right hemivagina (Fig. 6.1). The vagina is distensible and able to accommodate a large volume of menstrual blood and will present with a large mass.An obstructed uterine horn is less distensible than the vagina as it is smooth muscle and therefore unlikely to accommodate a large volume of menstrual blood or distend to the size noted on the ultrasound image. An ovarian cyst is possible but not likely to cause pain only during menstruation unless the cyst was endometriosis. An endometrioma cyst this size is atypical in such a young individual unless caused by an obstructed Mullerian anomaly.

Evaluation

Evaluation in this patient should focus on determining if there is an obstructed Mullerian anomaly, and if so where the level of obstruction is, and assessing the structure of the reproductive organs. The new ASRM Mullerian Anomaly Classifcation published in 2021 is a novel classifcation that utilizes words to name each anomaly, and in addition, it is an innovative tool that may be used to view the

6  Mullerian Anomaly	41
a	b

c

d

Fig. 6.2  (a) Sagittal T2-weighted MRI image showing obstructed hemivagina with hematocolpos, hematometra, and distended but well-defned cervix. (b) Coronal T2-weighted MRI image showing right hematometra and hematocolpos (yellow arrow) with left uterine horn cross section with normal endometrium (red arrow). (c) Sagittal T2-weighted MRI image of large obstructed hemivagina. (d) Axial T2-weighted MRI image showing distended right hemivagina with hematometra with well-defned right cervix (yellow arrow) and compressed left hemivagina adjacent to distended right hemivagina (red arrow). (Images from Samantha M. Pfeifer MD)

wide range of Mullerian anomalies and compare and contrast clinical presentation and imaging studies in order to arrive at the most likely diagnosis [4]. Magnetic resonance imaging (MRI) is the imaging modality preferred in these cases as the detail of the imaging in many imaging planes is able to defne the anatomy (Fig. 6.2) [5]. 3D ultrasound imaging, although successful in differentiating uterine anomalies such as arcuate, septate, bicornuate, and didelphys, is not as good as MRI for the complex anomalies. When utilizing radiology studies to confrm diagnosis of

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42	S. M. Pfeifer

Mullerian anomalies, it is important to work with radiologists who are familiar with these anomalies, as these are rare, and many may not have experience in interpreting the studies. The images are best obtained parallel to the long axis of the uterus. This may be accomplished with the usual sagittal, transverse, and coronal planes, but may require additional imaging in the oblique transverse or coronal planes to best defne the anatomy. In some cases, contrast gel may be inserted into the patient’s vagina to defne vaginal and cervical anatomy. When imaging complex anomalies, it is critical to work with the radiologist and discuss the differential diagnosis and suspected anomaly before performing the study so that an optimal study may be planned. After the studies have been performed, it is ideal to review the images with the radiologist to better understand and defne the anatomy.

Physical exam can be helpful in confrming the correct diagnosis. However, a pelvic exam in a young girl who has never had such an exam can be frightening and as a result limited. It may not be feasible to get a good look at the vagina and cervix due to a small hymenal opening. Some advocate a rectal exam, but this may also be invasive for a young female. Examination of the external genitalia may be helpful and with her cooperation may not be threatening. However, imaging is usually a better and less invasive way to determine the anatomy. When there is concern, an exam under anesthesia may be performed with little distress for the patient. In addition, other minimally invasive techniques such as vaginoscopy, hysteroscopy, and even uoroscopy can be utilized at that time to better defne the anatomy.

In this patient the MRI was performed, and it revealed a uterus didelphys with the left hemiuterus lying in the left pelvis with a normal cervix and vagina noted. The right hemiuterus was positioned high in the right pelvis with a normal cervix and a large right hematocolpos measuring 14 × 8 × 8 cm. The lower margin of the hematocolpos extended to 2 cm above the symphysis. Both ovaries were normal. The right and left fallopian tubes were not visualized. Right renal agenesis was confrmed; the left kidney was normal with a normal collecting system. The MRI confrmed the diagnosis of uterus didelphys and obstructed right hemivagina associated with right renal agenesis as identifed in the ASRM MAC2021 [4]. This condition has many names, including obstructed hemivagina and ipsilateral renal agenesis (OHVIRA) [3] and Herlyn-Werner-Wunderlich syndrome (HWW) [6]. It is classifed by the ESHRE-ESGE Classifcation system as U3 C2 V2 [7].

Uterus didelphys and obstructed hemivagina associated with ipsilateral renal agenesis is a rare condition, and no clear incidence has been determined, although it is seen less frequently than Mullerian agenesis (congenital absence of the uterus, cervix, and vagina). The cause has yet to be determined, but it is believed to represent disruption of embryologic development of the mesonephric and/or paramesonephric ducts. The obstruction may be complete or partial and occur at the level of the vagina or cervix. The obstruction is more common on the right, with an incidence of 52–67% as reported in small case series [8, 9]. Approximately 95% of the cases are associated with ipsilateral renal agenesis; other reported anomalies include dysplastic/hypoplastic kidney on the ipsilateral side, pelvic kidney, and contralateral duplicated ureter. A small proportion of cases have been described with normal renal anatomy.