Mayer-Rokitansky-Kuster-Hauser Syndrome - A Detailed Study of Nine Cases

2020 ◽  
Vol 7 (43) ◽  
pp. 2479-2484
Author(s):  
Amulya Reddy Bellal ◽  
Puneet Shirbur ◽  
Geetha R.G.
Keyword(s):  
External Genitalia ◽  
Type I ◽  
Mullerian Duct ◽  
Mrkh Syndrome ◽  
Müllerian Duct ◽  
Live Births ◽  
Primary Amenorrhoea ◽  
Secondary Sexual Characteristics ◽  
Uterine Anomalies ◽  
Sexual Characteristics

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 & 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 & 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

scholarly journals Evaluation and management of cases of primary amenorrhoea with MRKH syndrome

2013 ◽  
Vol 45 (1-2) ◽  
pp. 24-29
Author(s):  
Nasreen Akhter ◽  
Badrunnesa Begum
Keyword(s):  
Multidisciplinary Approach ◽  
Type I ◽  
Type Ii ◽  
Associated Anomalies ◽  
Complete Evaluation ◽  
Mrkh Syndrome ◽  
Primary Amenorrhoea ◽  
Secondary Sexual Characteristics ◽  
Sexual Characteristics ◽  
Congenital Aplasia

The Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, the second most common cause of primary amenorrhoea usually remains undetected until puberty and is characterized by congenital aplasia or hypoplasia of the uterus and most of the vagina in women showing normal secondary sexual characteristics. MRKH syndrome may be isolated (type I) but is more frequently associated with renal, vertebral, and, to a lesser extent, auditory and cardiac defects (MRKH type II or MURCS association). Complete evaluation of MRKH patient includes genital, urinary tract, cardiac, spinal and auditory assessment which need multidisciplinary approach. This review is an attempt to discuss the subtypes, associated anomalies, diagnostic consideration and treatment recommendations of patients with MRKH syndrome and aimed to make the specialists of other discipline, general physicians and the gynaecologists well aware about the entity. DOI: http://dx.doi.org/10.3329/bmjk.v45i1-2.13626 Bang Med J (Khulna) 2012; 45 : 24-29

scholarly journals Ovarian inguinal hernia – a possibility in MURCS syndrome

2020 ◽  
Author(s):  
Rahul Saini ◽  
Lovenish Bains ◽  
Tarangpreet Kaur ◽  
Pawan Lal ◽  
Veer Pal ◽  
...  
Keyword(s):  
Inguinal Hernia ◽  
Reproductive Age ◽  
Mullerian Duct ◽  
Age Group ◽  
Women Of Reproductive Age ◽  
Müllerian Duct ◽  
Secondary Sexual Characteristics ◽  
Sexual Characteristics ◽  
Reproductive Age Group ◽  
Secondary Sexual

Abstract Background Inguinal hernia containing ovary can be found in paediatric population and is a rare finding in women of reproductive age group. Most of the cases are associated with congenital abnormalities of the female genital tract. Case Presentation A 20 year old female presented with right reducible inguinal hernia, primary amenorrhea and normal secondary sexual characteristics. Clinical examination revealed scoliosis with convexity towards left side, prominence of left rib cage with sprengel deformity and right sided heart sounds. Ultrasound of the inguinal swelling revealed right ovary within the hernial sac, Chest X-ray revealed right lung collapse and dextrocardia. Further Magnetic resonance imaging (MRI) of pelvis revealed inguinal hernia with right ovary as its content, normal left ovary and absent uterus. Computed tomography (CT) revealed complete collapse of right lung with compensatory left lung hyperinflation and absent right kidney. Karyotyping of the patient was normal, 46XX. A diagnosis of MURCS syndrome with right ovarian hernia was made. The hernia was surgically managed with repositioning of ovary into the pelvis. Discussion Ovary in inguinal hernia is rare in women of reproductive age group. MRKH syndrome, a mullerian duct anomaly, is the congenital aplasia of uterus and upper two-thirds of vagina in a female with normal ovaries, fallopian tube, secondary sexual characteristics and 46XX karyotype. MURCS is a subtype of MRKH type 2 having mullerian duct agenesis with renal, cardiac, muscular & vertebral defects. General physical examination and primary investigations if yields abnormal findings; the patient must undergo an array of investigations to rule out MRKH/MURCS, or other congenital abnormality. Early diagnosis is essential to prevent its incarceration or torsion. The primary treatment of ovary in inguinal hernia is repositioning the ovary back to pelvis to preserve fertility and repair of inguinal hernia. A multidisciplinary team is required to deal with various abnormalities present in a patient with MURCS.

scholarly journals MAYER-ROKITANSKY-KUSTER-HAUSER (MRKH) SYNDROME: A CASE REPORT

2020 ◽  
pp. 44-45
Author(s):  
Vamanagunta. Pranavi ◽  
Kurapati. Sai Anusha
Keyword(s):  
Abnormal Development ◽  
Primary Amenorrhea ◽  
Mullerian Duct ◽  
Fallopian Tubes ◽  
Mrkh Syndrome ◽  
Müllerian Duct ◽  
Sexual Characteristics ◽  
Endocrine Status ◽  
Congenital Aplasia ◽  
Uncommon Condition

Mayer-Rokitansky-Kuster-Hauser syndrome is an uncommon condition, with an incidence of 1 in 4000- 5000 female births and is the second most frequent cause of primary amenorrhea after gonadal dysgenesis .The reproductive abnormalities of MRKH syndrome are due to incomplete development of the Müllerian duct which develops into the uterus, fallopian tubes, cervix, and the upper part of the vagina. The cause of the abnormal development of the Müllerian duct in affected individuals is unknown. This abnormality is characterized by congenital aplasia/hypoplasia of the uterus and the upper part (2/3) of vagina, in young women presenting otherwise with normal endocrine status. It may include absence or hypoplasia of the uterus and fallopian tubes. The patients present with normal secondary sexual characteristics, as the functional ovaries are present, but menstruation is absent .

scholarly journals MRKH syndrome: a review of literature

2018 ◽  
Vol 7 (12) ◽  
pp. 5219
Author(s):  
Nidhi Jain ◽  
Jyotsna Harlalka Kamra
Keyword(s):  
Ovarian Function ◽  
Surgical Techniques ◽  
Primary Amenorrhea ◽  
Mrkh Syndrome ◽  
Secondary Sexual Characteristics ◽  
Secondary Sexual Characters ◽  
Vaginal Aplasia ◽  
Rare Congenital Disorder ◽  
Sexual Characteristics ◽  
Secondary Sexual

Primary amenorrhea is defined as failure to achieve menarche till age of 14 years in absence of normal secondary sexual characters or till 16 years irrespective of secondary sexual characters. The most common cause of primary amenorrhea is gonadal pathology followed by Mayer-Rokitansky-Küster-Hauser syndrome (MRKH syndrome). MRKH syndrome is a rare congenital disorder characterised by uterine and vaginal aplasia. It occurs due to failure of development of Müllerian duct. Its incidence is 1 per 4500 female births. Mostly girls present with primary amenorrhea. It is characterised by presence of normal secondary sexual characteristics, normal 46 XX genotype, normal ovarian function in most of the cases and absent or underdeveloped uterus and upper part (2/3) of vagina. It is of two types: type A is isolated type while type B is associated with other renal/skeletal/cardiac anomalies. Treatment includes psychological counselling and vaginoplasty. Vaginoplasty can be done by various non-surgical and surgical techniques. The authors hereby review the literature of MRKH syndrome regarding its embryology, etiopathogenesis, approach to work up and management.

Role of Ultrasound and Magnetic Resonance Imaging in Assessment of Müllerian Duct Anomalies

QJM ◽  
2020 ◽  
Vol 113 (Supplement_1) ◽  
Author(s):  
S B Ali ◽  
A M Salama ◽  
Z A Mahmoud
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Imaging Modality ◽  
Mullerian Duct ◽  
Resonance Imaging ◽  
Müllerian Duct ◽  
Uterine Anomalies ◽  
Müllerian Duct Anomalies ◽  
Mullerian Duct Anomalies

Abstract Background Müllerian duct anomalies (MDAs) occur as a result from abnormal development of the uterus, cervix, and upper vagina. Many classification systems are presented, aiming to provide a more suitable and accurate categorization of female genital anomalies. Ultrasonography (US), Magnetic Resonance Imaging (MRI), or a combination of both are considered the gold standard in evaluation of uterine anomalies. Aim of the Work The main purpose of the study is to determine the diagnostic role of MRI and US in assessment of Müllerian duct anomalies and its subtypes. Patients and Methods This prospective analytical study was conducted at 14 patients suspected to have MDAs at Al-Demerdash Hospital-Ain Shams University in the period from September 2017 to May 2018, Their ages ranged from 15-40 year-old. All cases underwent Pelvic U/S and MRI, findings were correlated with laparoscopy. Results In this study the Mullerian duct anomalies were categorized into four groups: (a) congenital absence of the Müllerian ducts, or the Mayer-Rokitansky-Kuster-Hauser syndrome (n = 8), (b) disorders of vertical fusion (n = 1),(c) disorders of lateral fusion (n = 3) and (d) MDAs mimics(n = 2).MRI allowed correct diagnosis of 14 uterine anomalies (accuracy 100%) whereas US was correct in 13 out of 14 cases (accuracy 92.8%). Conclusion Two dimensional ultrasound stands as the first imaging modality of choice. MRI remains the reference imaging modality in diagnosis of Mullerian anomalies and it is subtypes and should be preserved for doubtful or complex cases.

scholarly journals Gradual, temperature-induced change of secondary sexual characteristics in Trichogramma pretiosum infected with parthenogenesis-inducing Wolbachia

PeerJ ◽  
2019 ◽  
Vol 7 ◽  
pp. e7567
Author(s):  
Su-fang Ning ◽  
Jin-cheng Zhou ◽  
Quan-quan Liu ◽  
Qian Zhao ◽  
Hui Dong
Keyword(s):  
High Temperature ◽  
Sexual Differentiation ◽  
External Genitalia ◽  
Intermediate Stage ◽  
External Morphology ◽  
Trichogramma Pretiosum ◽  
Secondary Sexual Characteristics ◽  
Sexual Characteristics ◽  
Male External Genitalia ◽  
Secondary Sexual

Intersex is an intermediate stage of sexual differentiation in insects. Determining intersex morphology and the cause of its production will aid in the understanding of the mechanism of sexual differentiation in insects. In this paper, Wolbachia-infected Trichogramma pretiosum (T. preW+) that shows thelytokous parthenogenesis were used as subjects. In order to determine the causes of the T. preW+ intersex and the influence of parental generation temperature on gradual changes in secondary masculinization in intersex offspring, we examined the occurrence of intersex offspring (F1 and F2 generation) after the parental generations were treated with high temperature (27, 29, 31, and 33 °C) and described the external morphology of the intersexes. The results showed that the T. preW+ parental generation temperature is positively correlated with the probability of intersex offspring. The probability of F1 intersex is significantly higher than that of F2 intersex in different high temperature. The degree of secondary masculinization in T. preW+ intersexes increases as parental generation temperature increases. In addition, our study first identified 11 intersex types in T. preW+ and found that the primary and secondary sexual characteristics showed a regular distribution. We also found that the D type and H type of intersex have the highest frequency of appearance. The external genitalia of most intersexes were female, and only three intersex types have male external genitalia. Conclusions were ultimately obtained: Wolbachia is a direct factor that causes the occurrence of intersexes, while high temperature is an indirect factor that determines the external morphology of intersexes. The effects of high temperature on T. preW+ intersexes is passed through the parental generation to offspring, and this maternal effect weakens as the number of generations increases. In T. preW+ intersex individuals, most exhibit female primary sexual characteristics, and secondary sexual characteristics exhibit signs of masculinization.

Primary amenorrhoea as a manifestation of coeliac disease

2021 ◽  
Vol 14 (1) ◽  
pp. e239260
Author(s):  
Sara Todo Bom Costa ◽  
Inês Salas Sanmarful
Keyword(s):  
Coeliac Disease ◽  
Clinical Manifestations ◽  
Autoimmune Disorder ◽  
Clinical History ◽  
Urogenital System ◽  
Primary Amenorrhoea ◽  
Secondary Sexual Characteristics ◽  
Wide Range ◽  
Sexual Characteristics ◽  
Detailed Clinical History

Coeliac disease is a systemic autoimmune disorder that has a wide range of clinical manifestations that include abdominal pain, diarrhoea, obstipation, weight loss, short stature and even primary amenorrhoea. It can be asymptomatic, which makes it an underdiagnosed disease. We present a case report of a 15-year-old girl who was referred to a paediatric consultation due to primary amenorrhoea. A detailed clinical history revealed poor weight gain. Physical examination showed that secondary sexual characteristics were present and there was a low body mass index. Ultrasonography images and laboratory tests revealed a normal urogenital system and an adequate gonadal function. Coeliac disease antibodies were positive and the diagnosis was confirmed through duodenal biopsy. The symptom resolved with a gluten-free diet. An approach to primary amenorrhoea should always include investigation of a systemic illness as it is a rare but treatable diagnosis.

Hypogonadism and Testosterone Replacement Therapy

2005 ◽  
Vol 00 (01) ◽  
pp. 75
Author(s):  
Adrian S Dobs
Keyword(s):  
Bone Mass ◽  
Sexual Function ◽  
Replacement Therapy ◽  
External Genitalia ◽  
Testosterone Replacement Therapy ◽  
Male Hypogonadism ◽  
Secondary Sexual Characteristics ◽  
The Us ◽  
Sexual Characteristics ◽  
Normal Spermatogenesis

Male hypogonadism affects an estimated four to five million men in the US. It is defined as failure of the testes to produce an adequate amount of testosterone and/or conduct normal spermatogenesis. The production of adequate amounts of testosterone is necessary for development of external genitalia and development of secondary sexual characteristics in children and adolescents. In adults, androgen production is necessary for maintenance of lean body mass (LBM), bone mass, libido, sexual function, and spermatogenesis.

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