MURCS (Müllerian duct aplasia–renal agenesis–cervicothoracic somite dysplasia): a rare cause of primary amenorrhoea

Kumar, Sunil; Sharma, Shruti

doi:10.1093/omcr/omw022

Cited by 7 publications

(3 citation statements)

References 6 publications

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“…The literature contained very few case reports describing the association of mullerian anomalies with non-renal anomalies, skeletal and cardiac malformations. 36 , 37 …”

Section: Discussionmentioning

confidence: 99%

“…The literature contained very few case reports describing the association of mullerian anomalies with non-renal anomalies, skeletal and cardiac malformations. 36,37 Seven cases of mullerian anomalies were "not described" in the new ASRM system. Nevertheless, we found it much more reliable for the radiology practice because it is an advanced modification of the known widely used AFS system using clear descriptions and iconic representations that can mirror the MR images, making for rapid, easy, and confident diagnosis of the anomaly.…”

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confidence: 99%

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MRI Evaluation of Mullerian Duct Anomalies: Practical Classification by the New ASRM System

Najar¹,

Ryalat²,

Sadaqah³

et al. 2022

JMDH

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To describe variable mullerian duct anomalies using magnetic resonance imaging (MRI) and to classify these anomalies according to the available classification systems, namely the American Fertility Society (AFS) system, the European Society of Human Reproduction and Embryology (ESHRE) system, and the new American Society for Reproductive Medicine (ASRM) system. Design: Retrospective chart review. Subjects: The pelvic MRI studies and the clinical records of 64 females with mullerian congenital anomalies were retrospectively reviewed between January 2010 and December 2021. The mean age was 22 years (age range 2-63 years). Main Outcome Measures: Detailed imaging findings were recorded, and the resulting mullerian anomalies were then classified according to the three classification systems of interest. Results: Variable mullerian anomalies were found among patients with multiple frequencies. Mullerian agenesis and hypoplasia were found in 12 patients (19%) and 16 patients (25%), respectively. Uterus didelphys was found in 5 patients (8%). Twelve (19%) patients had septate uterus, while 8 (12.5%) had a bicornuate anomaly. Unicornuate uterus was present in 7 patients (11%). Isolated vaginal anomaly was diagnosed in 4 patients (6%). Renal/urinary tract imaging was available for 27 (42%) patients, and accompanying urinary tract anomalies were noted in 10 of them (37%). Few ovarian and other extra-renal anomalies were observed. Conclusion: MRI could efficiently delineate the mullerian anomalies regardless of their complexity. Most of these anomalies were more efficaciously categorized by the ESHRE and the new ASRM systems, compared to the originally widely used AFS system. The new ASRM classification was found to be more practical as it is a modification of the original AFS system, using drawings with clear descriptions instead of symbols. This is particularly helpful in the radiological era, saving time and effort.

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“…The literature contained very few case reports describing the association of mullerian anomalies with non-renal anomalies, skeletal and cardiac malformations. 36 , 37 …”

Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

MRI Evaluation of Mullerian Duct Anomalies: Practical Classification by the New ASRM System

Najar¹,

Ryalat²,

Sadaqah³

et al. 2022

JMDH

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“…The coexistence of Müllerian aplasia with unilateral renal aplasia/ectopic kidney and cervicothoracic somite dysplasia is called Müllerian aplasia, renal aplasia, and cervicothoracic somite dysplasia syndrome (MURCS) ( 107 ).…”

Section: XX Differences Of Sex Developmentmentioning

confidence: 99%

46,XX Differences of Sex Development outside congenital adrenal hyperplasia: pathogenesis, clinical aspects, puberty, sex hormone replacement therapy and fertility outcomes

Stancampiano,

Meroni,

Bucolo

et al. 2024

Front. Endocrinol.

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The term ‘differences of sex development’ (DSD) refers to a group of congenital conditions that are associated with atypical development of chromosomal, gonadal, and/or anatomical sex. DSD in individuals with a 46,XX karyotype can occur due to fetal or postnatal exposure to elevated amount of androgens or maldevelopment of internal genitalia. Clinical phenotype could be quite variable and for this reason these conditions could be diagnosed at birth, in newborns with atypical genitalia, but also even later in life, due to progressive virilization during adolescence, or pubertal delay. Understand the physiological development and the molecular bases of gonadal and adrenal structures is crucial to determine the diagnosis and best management and treatment for these patients. The most common cause of DSD in 46,XX newborns is congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, determining primary adrenal insufficiency and androgen excess. In this review we will focus on the other rare causes of 46,XX DSD, outside CAH, summarizing the most relevant data on genetic, clinical aspects, puberty and fertility outcomes of these rare diseases.

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Update on Mayer—Rokitansky—Küster—Hauser syndrome

et al. 2022

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MURCS (Müllerian duct aplasia–renal agenesis–cervicothoracic somite dysplasia): a rare cause of primary amenorrhoea

Cited by 7 publications

References 6 publications

MRI Evaluation of Mullerian Duct Anomalies: Practical Classification by the New ASRM System

MRI Evaluation of Mullerian Duct Anomalies: Practical Classification by the New ASRM System

46,XX Differences of Sex Development outside congenital adrenal hyperplasia: pathogenesis, clinical aspects, puberty, sex hormone replacement therapy and fertility outcomes

Update on Mayer—Rokitansky—Küster—Hauser syndrome

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