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Müllerian Anomalies: a Cause for Primary Amenorrhea

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Müllerian Anomalies: a Cause for Primary Amenorrhea JSAFOG Müllerian Anomalies:10.5005/jp-journals-10006-1499 A Cause for Primary Amenorrhea ORIGINAL ARTICLE Müllerian Anomalies: A Cause for Primary Amenorrhea 1Anuja V Bhalerao, 2Richa Garg ABSTRACT Primary amenorrhea is the absence of secondary sexual Introduction: Primary amenorrhea is a challenging entity as characters until 14 years of age or absence of menstruation it affects the reproductive outcome. Primary amenorrhea is an with secondary sexual characters until 16 years of age.2 absence of secondary sexual characters until 14 years of age The incidence of primary amenorrhea is 0.3%.3 It is or absence of menstruation with secondary sexual characters due to congenital absence of uterus or failure of ovary to until 16 years of age. receive or maintain egg cells. The anomalies commonly The aim of this article is to study the frequency, etiologic Aim: associated with primary amenorrhea relate to its embryo- causes, presentation, diagnosis, and optimal mode of manage- ment of primary amenorrhea. genesis and define therapy and prognosis. There are a wide variety of defects whose ethology is not known, Materials and methods: All girls who had not attained men- arche until 16 years of age in the absence of secondary sexual and they vary from patient to patient, so management characters and until 14 years, if no secondary sexual characters, needs to be individualized. and were willing for follow-up were subjected to investigations The anomalies are asymptomatic, so are frequently and were treated as per the etiology. missed in routine gynecological examination. They Results: Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome affect the reproductive prognosis of a woman, and as the was the most common cause of primary amenorrhea (42.85%) followed by imperforate hymen (28.57%) and transverse vaginal presentation is complex; 62% of them require more than septum (21.42%), one each of low, mid, and high varieties. There imaging modality. was one case of androgen insensitivity syndrome. There is paucity of data for diagnosis and management. Conclusion: Establishing correct diagnosis is essential for Only two randomized controlled trials are available on planning treatment and management strategies in primary PubMed and Cochrane databases; the rest of them are cases amenorrhea as treatment goals are preservation of fertility and or case series. This puts the treating clinician in a quandary. progression of normal development. Early diagnosis and specific management are essential Keywords: Müllerian anomalies, Primary amenorrhea, Vaginal septum. for planning treatment for a healthy sexual relationship and achievement of successful reproductive outcomes in How to cite this article: Bhalerao AV, Garg R. Müllerian Anomalies: A Cause for Primary Amenorrhea. J South Asian primary amenorrhea. Feder Obst Gynae 2017;9(3):221-224. AIMS AND OBJECTIVES Source of support: Nil Conflict of interest: None • To study the frequency of primary amenorrhea in a Date of received: 17 May 2017 population. • To study etiologic causes of primary amenorrhea. Date of acceptance: 16 July 2017 • To study presentation, diagnosis, and optimal mode August 2017 Date of publication: of management of primary amenorrhea. INTRODUCTION MATERIALS AND METHODS Amenorrhea is the absence of menstrual period in a This prospective hospital-based study was carried out woman at reproductive age. In Greek, A stands for nega- at a rural tertiary care hospital after obtaining ethical tive, men for month, and rhoea for flow.1 committee approval. Over a period of 3 years from January 1, 2012 to December 31, 2015, there were 32,400 women attending 1 2 Associate Professor, Senior Resident gynecology outpatient department (OPD). Of them, there 1,2Department of Obstetrics and Gynaecology, NKP Salve were 14 girls with primary amenorrhea. Institute of Medical Sciences & Research Center, Nagpur Maharashtra, India Inclusion Criteria Corresponding Author: Anuja V Bhalerao, Associate Professor Department of Obstetrics and Gynaecology, NKP Salve Institute • All girls who had not attained menarche until 16 years of Medical Sciences and Research Center, Nagpur, Maharashtra of age in the absence of secondary sexual characters India, Phone: +9107104236290, e-mail: anuja_bhalerao@ and until 14 years if no secondary sexual characters. yahoo.com • Willing for follow-up. Journal of South Asian Federation of Obstetrics and Gynaecology, July-September 2017;9(3):221-224 221 Anuja V Bhalerao, Richa Garg The exclusion criteria were pregnancy and age Table 1: Frequency of Müllerian anomalies <14 years. Anomaly Number Percentage Frequency All the girls were subjected to careful history taking MRKH syndrome 6 42.85 0.0185 for psychological and emotional stress, family history Imperforate hymen 4 28.57 0.012 of genetic anomalies, clinical assessment for physical Transverse vaginal 3 21.42 0.009 septum problems, such as nutritional status, abnormal growth, AIS 1 7.14 0.0030 per abdominal examination, local examination of the 14/32,400 hymen, and per rectal examination; these were done in all 0.0432% patients to determine the presence or absence of uterus. Ultrasonography (USG) was done to determine pres- Table 2: Age at registration ence of uterus and its anomalies, endometrial thickness Anomaly Number Mean age in years and associated mass if any. The computed tomography/ MRKH syndrome 6 19.83 magnetic resonance imaging were done in some cases, Imperforate hymen 4 16.5 if USG seemed inadequate. Laparoscopy and Barr body Transverse vaginal septum 3 16.6 were done when required. AIS 1 17 Investigations like prolactin, thyroid-stimulating hormone, complete blood count, erythrocyte sedi- Table 3: Clinical presentation mentation rate, and Mantoux test were also done. Transverse They were then subjected for operative procedures MRKH Imperforate vaginal depending upon the etiology. They were all counseled syndrome Hymen septum AIS for being financially independent. Intraoperative and Primary amenorrhea 4 1 postoperative complications were noted. Girls with Pain in abdomen 2 2 Retention of urine 3 3 Mayer–Rokitansky–Küster–Hauser syndrome were Infertility 2 counseled and underwent vaginoplasty 6 months prior to marriage. Cruciate incision was given and hematometra was Table 4: Mode of diagnosis drained for imperforate hymen and low transverse Clinical Pelvic Anomaly diagnosis USG Laparoscopy Cytogenetics vaginal septum. MRKH + + High vaginal septum was managed by abdomino- syndrome vaginal route; a pull-through surgery was done. Thick Imperforate + low transverse vaginal septum was resected, and vagina hymen was sutured by Z plasty per vaginally. Transverse + + vaginal Androgen insensitivity syndrome (AIS) – counseled septum for gonadectomy after secondary sexual characters are AIS + + + developed and hormone replacement therapy (HRT) was advised. It was seen that only patients with Müllerian anoma- lies presented with amenorrhea as a primary com- Observations plaint, while in others, the presenting symptom varied During the study period, the total number of patients (Table 4). attending the gynecology OPD was 32,400. We had Clinical examination clinched the diagnosis of the 14 girls who presented with primary amenorrhea. The various Müllerian anomalies. Pelvic USG was helpful for incidence of primary amenorrhea in our institute was diagnosis of high transverse vaginal septum, and inguinal 0.04%, which is very low (Table 1). testes for AIS. A band was seen on laparoscopy in MRKH The MRKH syndrome was the most common cause of syndrome. The XY pattern in cytogenetics helped in the primary amenorrhea (42.85%) followed by imperforate diagnosis of AIS (Table 5). hymen (28.57%) and transverse vaginal septum (21.42%), Vaginoplasty was done in 6 girls who were to get one each of low, mid, and high varieties. There was one married. Its 5 of the 6 girls had Mcindoe and 1 had case of AIS (Table 2). vichetti. High vaginal septum was approached abdomino- It was observed that patients with obstructive anoma- vaginally,and low and imperforate hymen were lies presented earlier than those with Müllerian agenesis, approached vaginally. Low transverse vaginal septum as they developed complaints because of obstruction and imperforate hymen were managed by a cruciate (Table 3). incision on septum and drainage. 222 JSAFOG Müllerian Anomalies: A Cause for Primary Amenorrhea Table 5: Management for primary amenorrhea Incidence in general Incidence Tanmahansut Diagnosis Parikh et al5 population in our study et al4 n = 295 Primary amenorrhea3 0.022 (14/60,958) 0.3 0.043 Imperforate hymen7 0.006 (4/60,958) 0.1 0.012 2.0 Transverse vaginal septum4 0.001 (1/60,958) 0.00002 (2/100,000) 0.009 0.3 Müllerian agenesis8 0.013 (8/60,958) 0.00025 (1/4,000) 0.0185 39.7 AIS9 0.001 (1/60,958) 1.010 (1/99,000) 0.0030 5.1 Two of the six girls who underwent vaginoplasty study. This verified that racial and environmental stopped using mold and had cicatrization of vagina. The factors played an essential part in the causes of primary girl who underwent Vichetti vaginoplasty developed amenorrhea. vesicovaginal fistula (VVF) on the 10th postoperative Though the incidence of primary amenorrhea was day. She was advised to come for repair. quite low in our study, the incidence of transverse vaginal septum, Müllerian agenesis, and androgen insensitivity DISCUSSION was quite compatible. The MRKH syndrome is associ- ated with vaginal genesis and is thought to be due to Primary amenorrhea is usually due to gross error in mutation and polymorphism in anti-Müllerian hormone
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