Common Cause Of Primary Amenorrhea Research Articles

A rare variant of mullerian agenesis: a case report and review of the literature

IntroductionMenstruation is a developmental milestone and usually marks healthy and normal pubertal changes in females. Menarche refers to the onset of first menstruation in a female. The causes of primary amenorrhea include outflow tract abnormalities, resistant endometrium, primary ovarian insufficiency, and disorders of the hypothalamus, pituitary, or other endocrine glands. A rare variant of mullerian agenesis, which warrants an individualized approach to management, is presented here.Case reportWe present here the case of a 25-year-old Indian female with pain in the lower abdomen and primary amenorrhea. After a thorough history, clinical examination, imaging, and diagnostic laparoscopy, two small uteri, a blind upper half vagina, bilateral polycystic ovaries, and a blind transverse connection between the two uteri—a horseshoe band cervix—were detected, which confirmed the diagnosis of mullerian agenesis. There was evidence of adenomyosis in the mullerian duct element. This is a rare form of Müllerian abnormality with an unusual presentation.ConclusionMullerian agenesis is the most common cause of primary amenorrhea with well-developed secondary sexual characteristics. There are various forms of mullerian agenesis. Most of the cases are managed by a multidisciplinary team. Rare variants warrant an individualized approach to management.

Beyond anatomy: I don’t have a uterus, what now? Case report and literature review

Rokitansky - Küster-Hauser syndrome (MRKH) is characterized by agenesis or aplasia of the uterus and upper part of the vagina and is considered the second most common cause of primary amenorrhea. The psychological repercussions are significant and are directly related to sexual and reproductive health. This work reports the case of a teenager with MRKH and reviews the syndrome and the main factors that impact mental health. Case description: Adolescent 14 years old, female, absence of menarche, sexual life not initiated, Tanner M5P5. Pelvic ultrasound with hypoplastic uterus, magnetic resonance imaging of the pelvis with non-individualized uterus, unidentified vagina and ovaries with normal topography and morphology. Diagnosed with MRKH and has no desire to perform vaginal dilation. He has difficulty talking about the syndrome and aspects of his sexual life. She appeared sad and felt inadequate, especially after her father told her she was "less of a woman." Discussion: MRKH is the second most common cause of primary amenorrhea and its psychosocial impact is relevant. Historically, the uterus is described as primordial in female identity and menarche is an important milestone in puberty in girls. People with the syndrome tend to present more anxious and depressive symptoms, image disturbances, influencing self-esteem and identity construction. Conclusion: The diagnosis of MRKH involves several factors that go beyond anatomical changes. Therefore, it is essential to include emotional aspects in the clinical approach, aiming to improve sexual, reproductive and mental health and, above all, the quality of life of these people.

Let Us Treat the Patient Not the Case… A Young Girl with Mayer–Rokitansky–Küster–Hauser Syndrome

Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome is a rare cause of primary amenorrhea with an incidence of 1 in 5000. As per the American Society of Reproductive Medicine (ASRM) classification of Müllerian duct anomalies, uterine and vaginal agenesis correspond to class 1, the extreme form of which is the MRKH syndrome. Although considered rare, it is surprisingly the second-most common cause of primary amenorrhea after hypogonadism. The importance of the psychosocial dimension in the management of this condition cannot be overemphasized. Here, we describe a case of MRKH syndrome in a young girl from South India.

FRI412 A Case of 46,XX Gonadal Dysgenesis With Mayer-Rokitansky-Küster-Hauser Syndrome And Primary Hypothyroidism

Abstract Disclosure: S. Al Allawi: None. R. Osman: None. Introduction: The association between Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome and gonadal dysgenesis is rarely reported in the literature. Coexistence of hypothyroidism with this condition is scarce and clinical correlation remains unclear. We describe a case of this rare clinical entity in conjunction with primary hypothyroidism. Clinical case: A 27-year-old Female with a medical history of primary hypothyroidism was referred to our clinic for evaluation of primary amenorrhea. She was born with a female phenotype. Growth was appropriate, but puberty was delayed with self-reported late pubarche at age 19. She never had a menstrual cycle, and had received hormonal replacement therapy (HRT) for a few months but failed to trigger menarche. However due to financial constraints, treatment was not continued. She was diagnosed with hypothyroidism since birth, for which she is currently maintained on levothyroxine 225 mcg daily. On physical exam, blood pressure was 126/72 mmHg, pulse rate 83 BPM, height 5’9”, BMI 34 kg/m2. No facial dysmorphisms or skeletal deformity were apparent. She had normal pubic and axillary hair distribution, breast budding consistent with Tanner Stage II. Genital examination revealed normal external genitalia and a blind vaginal pouch. Hormonal workup revealed hypergonadotrophic hypogonadism with estradiol < 0.5 pg/mL and post-menopausal range follicle-stimulating hormone (FSH) 36.7 mIU/mL. Thyroid stimulating hormone (TSH) 2.19 uIU/ml (nl 0.45-4.5 uIU/mL) and anti-TPO antibodies 10 IU/mL (nl 0-34 IU/mL). Prior thyroid ultrasound reported a small thyroid gland. Fluorescence in situ hybridization (FISH) analysis revealed 46XX karyotype. Abdominal and pelvic ultrasound showed normal kidneys with a non-visualized uterus and ovaries. Pelvic MRI confirmed the absence of both and showed a blind end vaginal pouch, leading to the conclusion of the coexistence of gonadal dysgenesis with MRKH. She was then placed on transdermal estradioltherapy. Conclusion: The association between gonadal dysgenesis (the most common cause of primary amenorrhea) and MRKH syndrome (the second most common cause) is infrequent. HRT remains the only therapeutic option. It aims to trigger the development of secondary sexual characteristics and prevent osteoporosis by allowing appropriate bone mineral accrual. Unfortunately, infertility remains the most significant consequential issue; hence the availability of good caring and psychological counseling should not be underestimated. The co-existence of likely non-immune primary hypothyroidism is even less frequent. To our knowledge, our case is the second reported case of this trilogy. Given the paucity of data, the association of this condition with primary hypothyroidism cannot be well established and can be coincidental. More studies are needed to determine if this condition has a higher prevalence of hypothyroidism. Presentation: Friday, June 16, 2023

Updated Causes of Primary Amenorrhea [ID: 1381195

INTRODUCTION: Pubertal progression within a normal cadence is an important marker of natal female health. Data regarding causes of primary amenorrhea in a United States' adolescent population have not been published since 1981. We hypothesize that hyperandrogenism/polycystic ovarian syndrome (PCOS) is an increasingly common cause of primary amenorrhea. METHODS: A retrospective chart review was performed to identify patients with primary amenorrhea. A total of 1,785 charts were identified, of which 1,052 charts have been reviewed. Patients with hyperandrogenism/PCOS were classified by meeting any recommended diagnostic criteria for PCOS in adolescents or an elevated total or free testosterone based on Tanner staging with all other conditions ruled out. Other diagnoses for primary amenorrhea were classified per the American Society for Reproductive Medicine guidelines. RESULTS: Of the 1,052 charts reviewed so far, 263 patients met criteria for primary amenorrhea. Causes in order of prevalence were as follows: 85 hyperandrogenism/PCOS (32.3%), 71 hypothalamic hypogonadism (27%), 36 physiologic delay (13.7%), 19 primary hypogonadism (7.2%), 15 other endocrine causes (5.7%), 8 pituitary (3%), and 4 anatomic (1.5%). Twenty-five (9.5%) patients were unable to be classified. Of the 71 patients with hypothalamic hypogonadism, 27 (38%) had relative energy deficiency in sport (RED-S) making it the most common diagnosis of patients in this categorization. CONCLUSION: Polycystic ovarian syndrome/hyperandrogenism and RED-S are among the top three causes of primary amenorrhea. Proposed reasons for the shift in causes of primary amenorrhea over time include increasing obesity rates and metabolic syndrome in adolescents on one hand as well as increasing access to high-level athletics on the other.

078 A rare case of Mayer-Rokitansky-Küster-Hauser syndrome associated with bilateral ovarian agenesis in a normal karyotypic female

Objective: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is the second more common cause of primary amenorrhea resulting from congenital absence of the vagina and agenesis or hypoplasia of the Mullerian (paramesonephric) ducts. Patients with MRKH syndrome have normal functioning ovaries with normal 46, XX karyotype and undergo puberty. On the contrary bilateral gonadal agenesis is a rare cause of hypergonadotropic hypogonadism. Combination of these two pathologic entities is sporadically reported in the literature. We present an extremely rare case of primary amenorrhea with MRKH syndrome (U5bC4V4 by ESHRE classification) and coexisting bilateral ovarian agenesis.

A rare case of Mayer\u2013Rokitansky\u2013Kuster\u2013Hauser syndrome with right ectopic kidney diagnosed on MRI

IntroductionMeyer–Rokitansky–Küster–Hauser syndrome is rare congenital abnormality in females with a blind ending vagina. There can be associated hypoplasia of uterus. The syndrome is of sporadic origin and affects the reproductive life. Adequate and early diagnosis can help to rule out other associated anomalies.Case presentationWe are presenting an interesting case of Mullerian agenesis in a 16-year-old female patient who came to our gynecology department of our hospital with complaints of primary amenorrhea. On imaging, it was found that she was a case of Mayer–Rokitansky–Küster–Hauser syndrome with ectopic kidney. On physical examination, affected individuals appear normal but there was agenesis of uterus which is the common cause of primary amenorrhea. Magnetic resonance imaging findings are discussed in this article. On karyotyping and hormonal evaluation, patient hormones were in range and karyotype was 46, XX.ConclusionMRI is mainstay for diagnosis of this condition although other modalities like ultrasound can diagnose hypoplastic uterus and ectopic kidney. A rudimentary uterus hampers the reproductive functioning, and patient needs counseling for the same.

The Coexistence of Gonadal Dysgenesis With Mayer-rokitansky-küster-hauser Syndrome, and Dandy-Walker Variant

Background: Gonadal dysgenesis, the most common cause of primary amenorrhea, is characterized by absent or underdeveloped ovaries. Although the coexistence of gonadal dysgenesis and Mayer-Rokitansky-Küster-Hauser (MRKH) has been reported, it is still quite infrequent. To the extent that authors searched, just one study reported the association between Rokitansky sequence and Dandy-Walker malformation. Clinical Presentation and Intervention: We aimed to report a case with gonadal dysgenesis, MRKH, and the Dandy-Walker variant. In this care report, the authors reported a 15-year-old girl with primary amenorrhea and underdeveloped secondary sexual properties. Her karyotype was 46, XX. The abdominopelvic MRI without contrast demonstrated bilateral ovarian agenesis and no uterus or cervix. Vagina was normal in length. Brain MRI was consistent with the Dandy-Walker variant. Conclusion: Although some affected chromosomal regions have been identified, further genetic analyses should be performed to elucidate the probable association between these anomalies.

ANDROGEN INSENSITIVITY SYNDROME – A CASE REPORT

Background: AIS is one of the most commonly diagnosed XY DSD, with an estimated prevalence of 2:100.000 to 5:100.0001 and an incidence of 1:20.0002 to 1:99.0003. The name testicular feminization syndrome was coined by John McLean Morris of Yale University in 1953. The first description of this syndrome dates back to 1817, as quoted by Morris 4. It is the third most common cause of primary amenorrhea after gonadal dysgenesis and Mullerian agenesis 5.
 Case Report and Discussion: A 15-year-old phenotypic girl was evaluated for primary amenorrhea to find Complete Androgen Insensitivity Syndrome (CAIS) and underwent bilateral orchidectomy with plan for vaginoplasty at AIMSR, Hyderabad.
 Review of Literature: The treatment of AIS is based on the reinforcement sexual identity, gender identity plan and hormone replacement therapy. The prognosis is good, if the testicular tissue is resected at proper time.
 Conclusion: CAIS should be considered as important differential diagnosis in delayed menarche while evaluation for primary amenorrhea and early gonadectomy can avoid gender identity disorder (GID) / psychological issues
 Keywords: CAIS, GID

Laparoscopic Davydov Procedure for Creation of Neovagina in MRKH Syndrome

Introduction: The Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a condition in which there is an absence of the uterus and the upper part (2/3) of the vagina. Women with MRKH syndrome show normal development of secondary sexual characteristics and a normal 46, XX karyotype. MRKH syndrome is a common cause of primary amenorrhea. Ultrasonography examination confirms kidneys, presence of the ovaries, and absence of uterus. Treatment should include a multidisciplinary approach to create a functional vagina. One of the procedures is laparoscopic Davydov vaginoplasty.
 Aim: To report MRKH syndrome case treated with laparoscopic Davydov vaginoplasty.
 Method: Ms. A, 21 years old, P0A0, came to FER clinic Moh. Hoesin Hospital Palembang with complaint, never had menstruation, the patient admitted her breast, and her pubic had growth. She wants to get married in the next six months. From the US result, there was non visualized uterus, genital band (+), and both ovaries within normal limit ~ MRKH Syndrome. Karyotype Examination: 46, XX. Patient was diagnosed with primary amenorrhea caused by MRKH syndrome and was planned for neovagina (Davydov Procedure).
 Result: A woman 21-year-old, P0A0, was diagnosed with primary amenorrhea caused by MRKH syndrome. The Davydov procedure was done to create a neovagina. Intraoperative, after protrusion of the wood mold as a marker shown, an incision is made to the left and right side so that the mold penetrates the abdominal cavity, then the mold is pulled into the vaginal canal slowly. The anterior and posterior peritoneal layers are drawn into the vaginal canal. The anterior and posterior peritoneal layers were withdrawn with an ovum clamp and then interrupted suture. The anterior and posterior peritoneal layers were sutured in a circular method to form a vaginal cuff. The vaginal wall is sutured (interrupted) to hold mold fixed.
 Conclusion: MRKH syndrome is a disorder that occurs in females and mainly affects the reproductive system. This condition causes the vagina and the uterus to be underdeveloped or even absent at birth. Patients with diagnosed MRKH syndrome require interdisciplinary care. Davydov procedure is a laparoscopically-assisted technique, which has an advantage over traditional approaches. It has shorter operating time, lower intraoperative complications, shorter hospital stay, and no external scars. Postoperatively, sexual function is similar to women without gynecological disorders.

Laparoscopic Davydov Procedure for Creation of Neovagina in MRKH Syndrome

Introduction: The Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a condition in which there is an absence of the uterus and the upper part (2/3) of the vagina. Women with MRKH syndrome show normal development of secondary sexual characteristics and a normal 46, XX karyotype. MRKH syndrome is a common cause of primary amenorrhea. Ultrasonography examination confirms kidneys, presence of the ovaries, and absence of uterus. Treatment should include a multidisciplinary approach to create a functional vagina. One of the procedures is laparoscopic Davydov vaginoplasty.
 Aim: To report MRKH syndrome case treated with laparoscopic Davydov vaginoplasty.
 Method: Ms. A, 21 years old, P0A0, came to FER clinic Moh. Hoesin Hospital Palembang with complaint, never had menstruation, the patient admitted her breast, and her pubic had growth. She wants to get married in the next six months. From the US result, there was non visualized uterus, genital band (+), and both ovaries within normal limit ~ MRKH Syndrome. Karyotype Examination: 46, XX. Patient was diagnosed with primary amenorrhea caused by MRKH syndrome and was planned for neovagina (Davydov Procedure).
 Result: A woman 21-year-old, P0A0, was diagnosed with primary amenorrhea caused by MRKH syndrome. The Davydov procedure was done to create a neovagina. Intraoperative, after protrusion of the wood mold as a marker shown, an incision is made to the left and right side so that the mold penetrates the abdominal cavity, then the mold is pulled into the vaginal canal slowly. The anterior and posterior peritoneal layers are drawn into the vaginal canal. The anterior and posterior peritoneal layers were withdrawn with an ovum clamp and then interrupted suture. The anterior and posterior peritoneal layers were sutured in a circular method to form a vaginal cuff. The vaginal wall is sutured (interrupted) to hold mold fixed.
 Conclusion: MRKH syndrome is a disorder that occurs in females and mainly affects the reproductive system. This condition causes the vagina and the uterus to be underdeveloped or even absent at birth. Patients with diagnosed MRKH syndrome require interdisciplinary care. Davydov procedure is a laparoscopically-assisted technique, which has an advantage over traditional approaches. It has shorter operating time, lower intraoperative complications, shorter hospital stay, and no external scars. Postoperatively, sexual function is similar to women without gynecological disorders.

An Unusual Cause of Primary Amenorrhea

Background: Müllerian agenesis is the most common cause of primary amenorrhea in patients with typical thelarche and adrenarche. Most of the time, this diagnosis is made at the age of 10-13 years. Clinical Case: We present a case of a 18 year-old Vietnamese female who was referred to the endocrine clinic for primary amenorrhea. She stated that pubic hair developed at age 15 years. Patient is sexually active and uses condoms. She has 10 siblings (7 sisters, 3 brothers), 6 older sisters with menarche at ages 12-16 and a younger sister of 10 years old who has not yet had menarche. In addition, her older sister has 3 biological children and there was no reported infertility in her family. She stated that a pelvic ultrasound had been done at age of 17 years that showed no uterus. Oral contraceptives had been previously trialed and failed to induce withdrawal bleeding. HT 157.48 cm, WT 55.34 kg. The patient had a normal female phenotype with normal bilateral breast development, and no hirsutism. She was not concerned with this issue, which questioned her personality and coping skills. Laboratory testing-cortisol 13.0 ug/dL (5.3- 2.5), ACTH 29 pg/mL (0-47), estradiol 46.04 pg/mL), total testosterone 39 ng/dL (2-45), free testosterone 4.2 pg/mL (0.1-6.4), TSH 1.80 uIU/mL (0.358- .74), free T4 0.99 ng/dL(0.76- .46), FSH 4.4 mIU/mL (Follicular Phase:2.3 - 12.6, Midcycle Peak:5.2-17.5 mIU/mL, Luteal Phase:1.7-12.9 mIU/mL), Progesterone <0.5 ng/mL (follicular -less than 0.8 ng/ml, luteal=4.1- 3.7 ng/ml, mid-luteal= 4.5-25.2 ng/ml), LH 3.7 mIU/mL (follicular phase = 1.9-26.2 mIU/mL, Midcycle = 22.8 - 6.1 mIU/mL, Luteal phase = 0.6-16.6 mIU/mL). Transvaginal ultrasound-uterus not visualized; ovaries were unremarkable. DXA scan-normal Z scores. She refused to have a karyotype analysis. Differential diagnoses included müllerian agenesis, 5-alpha-reductase deficiency and complete androgen insensitivity syndrome. Unfortunately, our patient declined karyotype testing. Based on clinical presentation, which showed normal female genitalia, absence of uterus and normal laboratory finding, the most likely diagnosis was müllerian agenesis (Mayesr-Rokitansky-Kuster-Hauser syndrome). This syndrome has an incidence of 1/4,500-5,000 females and is caused is caused by embryologic underdevelopment of the müllerian duct, with resultant agenesis or atresia of the vagina, uterus, or both. Patients with müllerian agenesis usually are identified when they are evaluated for primary amenorrhea with otherwise typical growth and pubertal development, as in our patient. Psychosocial and genetic counseling, as well as offering options for pregnancy are important. In addition, certain personality traits, such as higher neuroticism, depression, and decreased coping styles may be observed.

Agenesis of female internal reproductive organs, the Mayer- Rokitansky-Küster-Hauser syndrome

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is the most common cause of uterine and uterine tubes absence/underdevelopment and the second most common cause of primary amenorrhea. It is characterized by a congenital agenesis of the uterine tubes, uterus, cervix, and upper part of the vagina. This study presents our 10 years of experience with the diagnostics and therapeutic management of patients with MRKH syndrome. We also focused on the description of anatomical deviations of the female reproductive organs. We studied a cohort of 16 patients hospitalized with MRKH syndrome between 2011-2020. We analysed the age at diagnosis, clinical signs and symptoms, diagnostic techniques, methods of neovagina creation, and anatomical anomalies of the female reproductive organs. The mean age of our patients at the time of diagnosis was 16.75 years. The most frequent clinical manifestations were primary amenorrhea (56.25 %), pelvic pain (31.25 %) and coitus-associated problems. We used two methods of neovagina creation. In six patients we used the non-surgical Frank's dilators method. The vaginal length at the beginning of the dilation was 1.5-2 cm. In 4 patients the vaginal length was under 1 cm, so we performed surgical neovagina creation using the laparoscopic Vecchietti method. An-other two patients could create the vagina via regular sexual intercourse. Based on magnetic resonance imaging and ultrasound examination, the following anomalies were observed: complete agenesis of the uterus (50 % of cases), fibrous band (25 %) and rudimentary uterus (25 %). Satisfactory results in the attempt to create a neovagina can be obtained by both non-surgical and surgical methods. Modern medicine provides many therapeutic measures, which make it possible for the affected women to have a normal sexual life (Tab. 1, Fig. 3, Ref. 37).

English

BACKGROUND Mayer-Rokitansky-Küster-Hauser Syndrome or MRKH Syndrome is a rare condition and is the second most common cause of primary amenorrhea, comprising of vaginal atresia (upper two thirds), rudimentary uterus, normal fallopian tubes, ovaries, broad and round ligaments. The spectrum of uterine anomalies (hypoplasia or duplication) include a partial lumen to a bicornuate or septate uterus with obstruction (unilateral or bilateral). The incidence is 1 in 4500 - 5000 female live births, presenting with primary amenorrhoea. The secondary sexual characteristics, external genitalia, ovaries and karyotype are normal. There are two types - the first type is the isolated form and the second type also termed as MURCS association [Müllerian duct aplasia, renal dysplasia-agenesis, hydronephrosis, horseshoe kidney and cervicothoracic anomalies such as fused vertebrae, scoliosis etc.]. Initial assessment with ultrasound scan of abdomen and pelvis followed by MRI study of the abdomen and pelvis are the imaging modalities of choice. METHODS This is a case series of 9 female patients who had presented to the Department of Obstetrics &amp; Gynaecology and the Department of Radiodiagnosis from July 2019 to June 2020, aged between 15 and 20 years with a chief complaint of anxiety due to primary amenorrhoea. Following a thorough clinical, gynaecological and biochemical evaluation (levels of FSH, LH and 17 beta oestradiol), radiological examination (ultrasound and MRI - abdomen and pelvis) was conducted. RESULTS In our study, out of a total of nine cases, six cases were MRKH Type I and three were MRKH Type 2. All the nine cases presented with primary amenorrhoea, normal secondary sexual characteristics (except one case with ectopic atrophic ovaries) and normal external genitalia. Available hormonal profile was unremarkable. Uterus was not palpable on PV and per speculum examination. Along with the above features, when features of only hypoplastic / infantile / rudimentary / absent uterus with hypoplastic / absent upper two thirds of vagina, normal pelvic ovaries or ectopic inguinal ovaries was present, a diagnosis of MRKH Type–I was given. With additional features of renal abnormalities or skeletal system abnormalities, a diagnosis of MRKH Type–II was given. CONCLUSIONS MRKH syndrome is a condition caused due to the failure of fusion of Müllerian duct derivatives. It affects 1 in 4500 - 5000 female live births. It is a class I Mullerian duct anomaly including vaginal atresia, uterine anomalies &amp; malformations of the upper urinary tract. There are two types in this. USG and MRI of the abdomen and pelvis are helpful in imaging this condition. KEYWORDS MRKH Syndrome, Ultrasound, MRI, MURCS Association

ROLE OF IMAGING IN PRIMARY AMENORRHEA- A PROSPECTIVE STUDY.

Background: Amenorrhea is the sixth major cause of female infertility affecting 2–5% of women in reproductive age. Primary amenorrhea affects 2–5% of adolescent girls. Early diagnosis and treatment is necessary to prevent complications and social consequences. Imaging plays a vital role in etiology of primary amenorrhea. Ultrasound is the first line investigation while Magnetic resonance imaging is important for accurate diagnosis and surgical planning.&#x0D; Aim and Objective: Determine etiology of primary amenorrhea in Kashmiri tertiary care centre and assess role of imaging (USG, CT, MRI) in determining its etiology.&#x0D; Materials and Methods: This was a hospital based prospective study done by departments of Gynaecology and Obstetrics and Radiodiagnosis and Imaging done in SKIMS hospital from Febuary to December 2019. 46 adolescent girls with primary complain of primary amenorrhea visited hospital’s out patient department.&#x0D; Results: Eugonadism was the most common cause of primary amenorrhea in our study accounting for 60.8% cases followed by Hypogonadotropic hypogonadism in 28.2% cases and hypergonadotropic hypogonadism in 10.8% cases. Mayer-Rokitansky-Kuster-Hauser syndrome was the most common cause of primary amenorrhea accounting for 21.7% cases followed by constitutional delay in 17.3% cases and polycystic ovarian disease in 13% cases.&#x0D; Radiological investigations primarily ultrasound and magnetic resonance imaging were directly or indirectly involved in diagnosing 65.5% cases of primary amenorrhea. Radiological Imaging was least useful in patients with constitutional delay.&#x0D; Conclusion: Radiology should be the first referral department in primary amenorrhea patients. Imaging is helpful in identifying cause of primary amenorrhea in majority of patients. Other modalities like karyotyping, laboratory investigations, clinical examination etc are helpful as well in addition to imaging.&#x0D; Keywords: Primary Amenorrhea, ultrasound(USG), Magnetic resonance Imaging(MRI), Computerized tomography(CT), Mayer-Rokitansky-Kuster-Hauser (MRKH).

Patient with Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) who Underwent Laparoscopic Davydov-Moore vaginoplasty

The Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) constitutes the second most common cause of primary amenorrhea, after gonadal dysgenesis. It is a congenital absence of the vagina with variable uterine development, which is a result of Mullerian duct agenesis or hypoplasia. The incidence for vaginal agenesis is 1 in 5000 (range 1 per 4000 to 10,000 females). We describe two cases of women diagnosed with MRKH syndrome who underwent laparoscopic Davydov-Moore vaginoplasty. Our video demonstrates the succesful operation which is composed of dissection of the rectovesical space, abdominal mobilization of the peritoneum to create the vaginal fornices, and attachment of the peritoneum to the introitus. Treatment of this syndrome should be multidisciplinary and individualized to the patient. It includes a combination of psychosocial support and correction of the anatomic abnormality.

Neovaginoplasty Using Nile Tilapia Fish Skin as a New Biologic Graft in Patients with Mayer-Rokitansky-Küster-Hauser Syndrome

Mayer-Rokitansky-Küster-Hauser syndrome is the second most common cause of primary amenorrhea, trailing only to gonadal dysgenesis. Neovaginoplasty is an appropriate treatment option for patients who have failed dilation therapy. Several biomaterials have been used in this procedure, including peritoneum, amnion, skin grafts, and myocutaneous flaps. Nile Tilapia Fish Skin has noninfectious microbiota, morphologic structure comparable to human skin, and high in vivo bioresorption. In addition, it showed good outcomes when used as a xenograft for burn treatment. Thus, we suggest it as a new biologic graft for vaginal agenesis management. In this descriptive study, neovaginoplasty using Nile Tilapia Fish Skin offered 3 patients an anatomic and functional neovagina via a simple method with potential long-term effectiveness. When postsurgical dilation was performed correctly, a vaginal length greater than 6 cm was maintained at 180 days follow-up. Histologic and immunohistochemical analyses revealed the presence of stratified squamous epithelium with high expression of cytokeratins and fibroblast growth factor, matching the characteristics of normal adult vaginal tissue. We believe that further studies will show Nile Tilapia Fish Skin to be a relevant option in the therapeutic arsenal of Mayer-Rokitansky-Küster-Hauser syndrome.

A rare form of Mayer-Rokitansky-Küster-Hauser syndrome: Case report and review of literature

IntroductionPrimary amenorrhea is failure to reach menarche. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is the second most common cause of primary amenorrhea, after gonadal dysgenesis. Herein, we report a rare case of an unusual subtype of MRKH syndrome.Case ReportThis report describes the case of a 28-year-old woman with primary amenorrhea and coital difficulties. On examination, she had normal secondary sexual characteristics but a blind-ending vagina. Her hormonal profile was within normal limits; ultrasound examination was inconclusive due to technical difficulties. Subsequently, she underwent pelvic magnetic resonance imaging, which revealed bilateral rudimentary uterine horns in the presence of normal ovaries and normal length of a blind-ending narrow vagina.ConclusionMRKH syndrome with bilateral rudimentary uterine horns and normal-length vagina is an unusual form of Müllerian agenesis.

Complete Müllerian agenesis, renal agenesis, and renal ectopia: MURCS association – A rare cause of primary amenorrhea

Mullerian duct aplasia–renal agenesis–cervicothoracic somite dysplasia (MURCS) association is a rare and unusual constellation of nonrandom findings that include Mullerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia. The agenesis of the Mullerian duct is the second-most common cause of primary amenorrhea after Turner syndrome. The abnormal development of Mullerian duct often associates with the urinary tract and skeletal abnormalities. MURCS association is a unique and rare developmental disorder with four common features of uterine hypoplasia or aplasia, renal agenesis or ectopy, vertebral anomalies, and short stature. Here, we report a 32-year-old female with aplasia of the Mullerian duct, unilateral renal agenesis, and anomalies of the cervicothoracic somites (MURCS association).

Search for altered imprinting marks in Mayer-Rokitansky-Küster-Hauser patients.

BackgroundMayer–Rokitansky–Küster–Hauser syndrome (MRKH) is the second most common cause of primary amenorrhea and characterized by absence of the uterus and the upper part of the vagina. The etiology of MRKH is mainly unknown but a contribution of genomic alterations is probable. A molecular disturbance so far neglected in MRKH research is aberrant methylation at imprinted loci. In fact, MRKH has been reported in patients with the imprinting disorder Silver–Russell syndrome.MethodsWe report on a rare patient with MRKH and SRS due to an ICR1 hypomethylation in 11p15.5. On the basis of this observation we screened a large cohort of MRKH patients (n > 100) for aberrant methylation at nine imprinted loci.ResultsWe failed to detect any epimutation, thus we conclude that imprinting defects at least at the currently known disease‐relevant imprinted loci do not contribute to the isolated MRKH phenotype. However, it cannot be excluded that altered methylation marks at other loci are involved in the etiology of MRKH.ConclusionThe molecular basis for MRKH remains unclear in the majority of patients, but future studies on the association between MRKH and ICR1 hypomethylation/SRS will to enlighten the role of epigenetics in the etiology of MRKH.