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Advances in Clinical and Experimental... Apr 2020The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also known as Müllerian agenesis or aplasia, is a congenital disease manifested by the aplasia of the uterus and... (Review)
Review
The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also known as Müllerian agenesis or aplasia, is a congenital disease manifested by the aplasia of the uterus and the upper 2/3 of the vagina; its incidence is 1 in 4,000-5,000 female live births. We can distinguish 2 types of the MRKH syndrome: type I, which is characterized by an isolated absence of 2/3 of the vagina and uterus; and type II or MURCS (Müllerian duct aplasia, unilateral renal agenesis and cervicothoracic somite anomalies), which is also associated with other symptoms. The treatment of the MRKH syndrome patients aims at creating a neovagina and enabling sexual intercourse. Non-surgical techniques are the first-choice methods, and more than 90% of patients notice an anatomical and functional improvement if they are well-prepared emotionally. If non-surgical treatment does not bring about the expected results, a surgical procedure remains an option. The surgical method is mainly determined by the surgeon's experience. There are a few types of operations, though none of them seems superior to others. The next challenge is to provide these patients with a chance to become parents. Nowadays, a uterine transplant, a surrogate or adoption are the available solutions. An interdisciplinary approach is required, and the treatment should consist of medical and psychological support. This review presents the current knowledge about the MRKH syndrome with regard to the current methods of non-surgical and surgical treatment as well as a summary of the associated psychological problems.
Topics: 46, XX Disorders of Sex Development; Congenital Abnormalities; Female; Humans; Mullerian Ducts; Uterus; Vagina
PubMed: 32348039
DOI: 10.17219/acem/118850 -
International Journal of Molecular... Nov 2019Sex development is a complex process involving many genes and hormones. Defects in this process lead to Differences of Sex Development (DSD), a group of heterogeneous... (Review)
Review
Sex development is a complex process involving many genes and hormones. Defects in this process lead to Differences of Sex Development (DSD), a group of heterogeneous conditions not as rare as previously thought. Part of the obstacles in proper management of these patients is due to an incomplete understanding of the genetics programs and molecular pathways involved in sex development and DSD. Several challenges delay progress and the lack of a proper model system for the single patient severely hinders advances in understanding these diseases. The revolutionary techniques of cellular reprogramming and guided in vitro differentiation allow us now to exploit the versatility of induced pluripotent stem cells to create alternatives models for DSD, ideally on a patient-specific personalized basis.
Topics: Animals; Cellular Reprogramming Techniques; Disorders of Sex Development; Gonads; Humans; Induced Pluripotent Stem Cells; Patient-Specific Modeling; Primary Cell Culture
PubMed: 31690065
DOI: 10.3390/ijms20215495 -
Sante Publique (Vandoeuvre-les-Nancy,... 2023The aim of this contribution is to propose research orientations for future work on intersex. We begin by indicating why intersex is a public health issue, before...
The aim of this contribution is to propose research orientations for future work on intersex. We begin by indicating why intersex is a public health issue, before proposing two orientations for future research: the need to take into account the specificities of intersex and the interest in adopting a holistic approach.
Topics: Humans; Disorders of Sex Development; Public Health
PubMed: 37336723
DOI: 10.3917/spub.hs2.0103 -
Best Practice & Research. Clinical... Dec 2020Non-obstructive azoospermia is a distinct diagnosis within male infertility in which no sperm is found in the ejaculate as a result of spermatogenesis failure. Because... (Review)
Review
Non-obstructive azoospermia is a distinct diagnosis within male infertility in which no sperm is found in the ejaculate as a result of spermatogenesis failure. Because of the increased prevalence of genetic abnormalities in men with non-obstructive azoospermia, male infertility guidelines recommend screening for karyotype abnormalities and Y chromosome microdeletions in this population. Numerous karyotype abnormalities may be present resulting in impaired spermatogenesis, including: Klinefelter syndrome, translocations, and deletions. Y chromosome microdeletions of the AZFa, AZFb, AZFc subregions all can also result in non-obstructive azoospermia with the possibility of sperm being present if only the AZFc subregion is deleted. While these are the two genetic tests recommended by the guidelines, nearly 50%-80% of non-obstructive azoospermia has no identifiable cause and is deemed idiopathic. Several other genetic defects can lead to non-obstructive azoospermia including Kallmann syndrome, mild androgen insensitivity syndrome, and TEX11. While many additional candidate genes have been proposed, many have yet to be verified or are so infrequent in the population that screening is cost-ineffective. Much research is still required in the genetics of non-obstructive azoospermia and will require multi-institutional initiatives to better understand the genetics of condition.
Topics: Androgen-Insensitivity Syndrome; Azoospermia; Chromosome Deletion; Chromosomes, Human, Y; Diagnosis, Differential; Genetic Predisposition to Disease; Genetic Testing; Humans; Infertility, Male; Klinefelter Syndrome; Male; Mutation; Sex Chromosome Aberrations; Sex Chromosome Disorders of Sex Development; Spermatozoa
PubMed: 33390350
DOI: 10.1016/j.beem.2020.101479 -
Prenatal ambiguous/atypical genitalia: why are we still missing it and how can we improve diagnosis?Ultrasound in Obstetrics & Gynecology :... May 2024
Topics: Humans; Female; Pregnancy; Disorders of Sex Development; Ultrasonography, Prenatal; Prenatal Diagnosis
PubMed: 37773980
DOI: 10.1002/uog.27507 -
Nederlands Tijdschrift Voor Geneeskunde Feb 2020This case discussion on urethral coitus in Mayer-Rokitansky-Küster-Hauser syndrome shows that this rare syndrome can have major physical and psychological consequences....
This case discussion on urethral coitus in Mayer-Rokitansky-Küster-Hauser syndrome shows that this rare syndrome can have major physical and psychological consequences. Further consideration shows that a lack of common sense and a lack of action concerning sexual history-taking and careful vulvar examination is the reason that an iatrogenic sexual problem arose in this case. This was not the result of the initial denial of a rare diagnosis. Both attention to these aspects during training and supervision are necessary, since other disorders and medical treatments can also have a negative impact on sexuality.
Topics: 46, XX Disorders of Sex Development; Coitus; Congenital Abnormalities; Female; Humans; Iatrogenic Disease; Mullerian Ducts; Sexual Dysfunctions, Psychological; Urethral Diseases; Vulva
PubMed: 32392001
DOI: No ID Found -
The Journal of Urology Oct 2020
Topics: Attitude; Caregivers; Disorders of Sex Development; Humans
PubMed: 32697134
DOI: 10.1097/JU.0000000000001076.01 -
The Journal of Urology Oct 2020
Topics: Attitude; Caregivers; Disorders of Sex Development; Humans
PubMed: 32697133
DOI: 10.1097/JU.0000000000001076.02 -
Current Opinion in Organ Transplantation Dec 2021Women with absolute uterine factor infertility, because of uterine absence, or the presence of a nonfunctional uterus, were regarded as being untreatable until 2014 when... (Review)
Review
PURPOSE OF REVIEW
Women with absolute uterine factor infertility, because of uterine absence, or the presence of a nonfunctional uterus, were regarded as being untreatable until 2014 when the first birth following uterus transplantation (UTx) took place in Sweden. This proof-of-concept occurred in a woman with Mayer-Rokitansky-Küster-Hauser syndrome (MRKHs) with congenital uterine absence, who received a uterus from a 61-year-old live donor (LD). Since then, several births after UTx have occurred in Sweden and subsequently in other countries, including both LD and deceased donor (DD) transplants. A great majority of the recipients were women with MRKHs. The efficiency and safety of UTx can be determined only when a complete study cohort of transplanted women have reached the definitive endpoint of graft hysterectomy. The different outcomes of transplanted women include graft failure, as well as graft survival with failure to achieve livebirth, or livebirth(s). Published data from a completed trial are not yet available. The results that we have to rely on are reports of completed surgeries and interim outcomes that may be as early as a few months after surgery and up to several years after UTx. The purpose of this review is to give an update on all published clinical UTx data and major results, including live births up to mid 2021.
RECENT FINDINGS
The interim results of a number of UTx studies have been published. LD UTx procedures have been reported from four European countries (Sweden, the Czech Republic, Germany, Spain), four Asian nations (Saudi Arabia, India, China, Lebanon), as well as some from the USA. DD UTx procedures have been reported from Turkey, the Czech Republic, the USA and Brazil. To our knowledge, there also exist unpublished UTx cases from some of the countries mentioned above and from at least four other countries (Serbia, France, Mexico, Italy). We estimate that at least 80 UTx procedures have been performed, resulting in more than 40 births. The present study includes only data from published, peer-reviewed, research papers. The results of 62 UTx cases show an overall surgical success rate, as defined by a technically successful transplantation with a subsequent regular menstrual pattern, of 76%. The success rates for LD and DD UTx procedures were 78% and 64%, respectively. The rate of serious postsurgical complications requiring invasive or radiological intervention was 18% for LDs and 19% for recipients. The cumulative live birth rate in successful UTx procedures is estimated to be above 80%. Twenty-four births after UTx have been reported and the results show a high rate of preterm birth, with an associated high proportion of respiratory distress syndrome.
SUMMARY
UTx has proven to be a successful treatment for uterine factor infertility at several centers around the world. The modest success rate and the fairly high complication rate among LDs, indicate that further research and development under strict governance are needed before this option should be widely offered.
Topics: 46, XX Disorders of Sex Development; Female; Humans; Infant, Newborn; Infertility, Female; Middle Aged; Mullerian Ducts; Pregnancy; Premature Birth; Urogenital Abnormalities; Uterus
PubMed: 34636769
DOI: 10.1097/MOT.0000000000000936 -
History and Philosophy of the Life... Jun 2022The history of the field of intersex bodies/bodies with variations of sex development (VSD) reflects the ongoing tension between sociomedical attempts to control...
The history of the field of intersex bodies/bodies with variations of sex development (VSD) reflects the ongoing tension between sociomedical attempts to control uncertainty and reduce the duration of corporeal uncertainty by means of early diagnosis and treatment, and the embodied subjects who resist or challenge these attempts, which ultimately increase uncertainty. Based on various qualitative studies in the field of intersex, this article describes three temporal sociomedical approaches that have evolved over the last decade and aims to address the uncertainty surrounding intersex/VSD bodies. These approaches are (1) the corrective-concealing approach, which includes early surgeries and hormone therapies intended to "correct" intersex conditions and the deliberate concealment of the ambiguity and uncertainty associated with intersex conditions; (2) the preventive approach, which involves early genetic diagnostic methods aimed at regulating or preventing the recurrence of hereditary conditions under the umbrella of VSD; and (3) the wait-and-see approach, which perceives intersex bodies as natural variations and encourages parents to take time, wait, and give their children the right to bodily autonomy. A comparison of these approaches from biopolitical, phenomenological, and pragmatic perspectives reveals that time is an essential social agent in addressing and controlling uncertainty, a gatekeeper of social norms and social and physical orders, and, on the other hand, a sociopolitical agent that enables creative social change.
Topics: Child; Disorders of Sex Development; Genetic Techniques; Humans; Social Change
PubMed: 35674937
DOI: 10.1007/s40656-022-00511-0