Persistent Müllerian duct syndrome: an update

Picard, Jean‐Yves; Josso, Nathalie

doi:10.1071/rd17501

Cited by 34 publications

(42 citation statements)

References 103 publications

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“…Persistent Müllerian duct syndrome is a very rare form of 46,XY DSD that results from inactivating mutations affecting the AMH gene or AMH receptor type II ( AMHR2 ) gene. It is mostly transmitted in an autosomal recessive pattern, and most cases were detected among families with a high consanguinity rate (Picard & Josso, 2019). The majority of AMH gene variants were identified in the Mediterranean region and Saudi Arabia, while most of AMHR2 variants were identified in Northern Europe (Ren et al, 2017).…”

Section: Discussionmentioning

confidence: 99%

Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development

Mazen

Mekkawy²,

Kamel³

et al. 2021

American J of Med Genetics Pt A

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Disorders/differences of sex development (DSD) comprise a group of congenital disorders that affect the genitourinary tract and usually involve the endocrine and reproductive system. The aim of this work was to identify genetic variants responsible for disorders of human urogenital development in a cohort of Egyptian patients. This three‐year study included 225 patients with various DSD forms, referred to the genetic DSD and endocrinology clinic, National Research Centre, Egypt. The patients underwent thorough clinical examination, hormonal and imaging studies, detailed cytogenetic and fluorescence in situ hybridization analysis, and molecular sequencing of genes known to commonly cause DSD including AR, SRD5A2, 17BHSD3, NR5A1, SRY, and WT1. Whole exome sequencing (WES) was carried out for 18 selected patients. The study revealed a high rate of sex chromosomal DSD (33%) with a wide array of cytogenetic abnormalities. Sanger sequencing identified pathogenic variants in 33.7% of 46,XY patients, while the detection rate of WES reached 66.7%. Our patients showed a different mutational profile compared with that reported in other populations with a predominance of heritable DSD causes. WES identified rare and novel pathogenic variants in NR5A1, WT1, HHAT, CYP19A1, AMH, AMHR2, and FANCA and in the X‐linked genes ARX and KDM6A. In addition, digenic inheritance was observed in two of our patients and was suggested to be a cause of the phenotypic variability observed in DSD.

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Section: Discussionmentioning

confidence: 99%

Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development

Mazen

Mekkawy²,

Kamel³

et al. 2021

American J of Med Genetics Pt A

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“…Groin pain induced by an inguinal hernia, itself caused by PMDS, has been rarely reported [ 7 ]. The inguinal region receives sensory innervation from the iliohypogastric, ilioinguinal, and genitofemoral nerves [ 8 ], as shown in Figure 3 .…”

Section: Discussionmentioning

confidence: 99%

Management of Groin Pain Using an Iliohypogastric Nerve Block in a Patient with Inguinal Hernia due to Persistent Müllerian Duct Syndrome

Sekito

Sadahira

Sugihara

et al. 2021

Case Reports in Urology

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Persistent Müllerian duct syndrome can cause an inguinal hernia, although this is a rare occurrence; recurrent inguinal hernias can, in turn, cause ongoing groin pain. Management of groin pain plays an important role in patients’ quality of life. We present our experience with a 43-year-old man who had a 2-week history of left-sided groin pain. The patient underwent laparoscopic surgery for a left inguinal hernia via the transabdominal preperitoneal approach. Right-sided cryptorchidism was noted during surgery, with a solid structure—thought to be a uterus—extending into the left inguinal canal. The diagnosis was persistent Müllerian duct syndrome, and the groin pain was relieved after a laparoscopic right orchiectomy with a bilateral preperitoneal hernia repair using a mesh. Four years later, magnetic resonance imaging performed for new-onset left groin pain showed a left inguinal hernia caused by the uterine structure. We diagnosed the recurrent hernia as the cause of his pain. Prior to performing any invasive surgical procedures, an iliohypogastric nerve block was performed using 1% lidocaine. Short-term analgesia was provided by the block, improving his quality of life. He has been followed since then and has declined surgical neurectomy. An iliohypogastric nerve block can be an effective method of controlling groin pain caused by an inguinal hernia resulting from persistent Müllerian duct syndrome; the effectiveness of the nerve block will help determine whether surgical neurectomy is indicated for permanent pain control.

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“…The majority of infants with XY DSD encountered in a DSD clinic and who are systematically investigated do not have an endocrine disorder of androgen synthesis and do not have a variant in AR 37 . Whilst in some of them, there may be other phenotypic clues, such as in the case of persistent Mullerian duct syndrome, 104 in others, the aetiology may only become clear with further clinical follow‐up. The use of HTS in such cases has also started to identify variants in a wide range of genes that may have a role to play in genital tubercle development or testis migration 105 …”

Section: Xy Dsd With Normal Testosterone Normal Precursors and Normal Dhtmentioning

confidence: 99%

Society for Endocrinology UK Guidance on the initial evaluation of a suspected difference or disorder of sex development (Revised 2021)

Ahmed

Achermann

Alderson

et al. 2021

Clinical Endocrinology

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It is paramount that any child or adolescent with a suspected difference or disorder of sex development (DSD) is assessed by an experienced clinician with adequate knowledge about the range of conditions associated with DSD and is discussed with the regional DSD service. In most cases, the paediatric endocrinologist within this service acts as the first point of contact but involvement of the regional multidisciplinary service will also ensure prompt access to specialist psychology and nursing care. The underlying pathophysiology of DSD and the process of delineating this should be discussed with the parents and affected young person with all diagnostic tests undertaken in a timely fashion. Finally, for rare conditions such as these, it is imperative that clinical experience is shared through national and international clinical and research collaborations.

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Persistent Müllerian duct syndrome: an update

Cited by 34 publications

References 103 publications

Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development

Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development

Management of Groin Pain Using an Iliohypogastric Nerve Block in a Patient with Inguinal Hernia due to Persistent Müllerian Duct Syndrome

Society for Endocrinology UK Guidance on the initial evaluation of a suspected difference or disorder of sex development (Revised 2021)

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