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The Journal of Urology Nov 2019
Topics: Child; Child, Preschool; Disorders of Sex Development; Humans; Parents
PubMed: 31429641
DOI: 10.1097/01.JU.0000580384.33295.86 -
La Tunisie Medicale May 2024Rokitansky syndrome or Mayer Rokitansky Kuster Hauser (SRKMH) is a rare congenital malformation defined by uterovaginal aplasia. The aim of the treatment is to create a... (Comparative Study)
Comparative Study
INTRODUCTION
Rokitansky syndrome or Mayer Rokitansky Kuster Hauser (SRKMH) is a rare congenital malformation defined by uterovaginal aplasia. The aim of the treatment is to create a neovagina and restore sexual life. However, postoperative results in terms of sexual and overall quality of life of patients remain controversial.
AIM
To evaluate the quality of life and sexuality of patients operated on for Rokitansky syndrome.
METHODS
This was a retrospective and comparative study between two groups of patients. The first group consisted of patients who had undergone vaginoplasty as part of SRKMH. The second group was that of the controls. Control in terms of sexual function by the Ar FSFI (Arab FemaleSexualFunction Index) and quality of life by the SF36 (Short Forms Health Survey) were used in both groups.
RESULTS
The average age of patients operated on for SRKMH was 22.53 years. Eighteen of these patients (60%) were sexually active at the time of the study. Patients operated on for SRKMH had a significantly lower Ar FSFI score compared to the control group. The two areas most affected were lubrication and pain. Likewise, patients who underwent vaginoplasty had a significantly lower SF 36 score compared to the control group. The psychological component was the most affected of the different components of quality of life.
CONCLUSION
Sexual function and quality of life after vaginoplasty in the context of Rokitansky syndrome remains unsatisfactory despite the anatomical result.
Topics: Humans; Quality of Life; Female; Retrospective Studies; Congenital Abnormalities; 46, XX Disorders of Sex Development; Mullerian Ducts; Young Adult; Adult; Vagina; Sexuality; Adolescent; Uterus; Sexual Behavior
PubMed: 38801290
DOI: 10.62438/tunismed.v102i5.4738 -
Lakartidningen Oct 2019
Review
Topics: Adolescent; Age of Onset; Autism Spectrum Disorder; Child; Comorbidity; Disorders of Sex Development; Feeding and Eating Disorders; Gender Dysphoria; Humans; Interdisciplinary Communication; Legislation, Medical; Patient Care Team; Sex Reassignment Surgery; Sweden; Transsexualism; Young Adult
PubMed: 31613370
DOI: No ID Found -
Journal of Pediatric Endocrinology &... Mar 2023Intersex/Disorders/Differences of sex development conditions have been recognized for millennia. An organized approach was adopted in the 1960-70s using the philosophy... (Review)
Review
Intersex/Disorders/Differences of sex development conditions have been recognized for millennia. An organized approach was adopted in the 1960-70s using the philosophy that gender identity was fluid and malleable. Consequences of this approach were the lack of disclosure, stigmatization, and excessive surgery to "normalize" the genitalia. Often this led to quality of life issues for those patients. There have been many modifications in approach since then to avoid the problems noted. There is consensus on many of these changes (e.g. disclosure) but continued controversy on others (e.g. the benefits of early surgery). This review summarizes the historical context and the current areas of consensus and controversy.
Topics: Humans; Male; Female; Gender Identity; Quality of Life; Disorders of Sex Development; Consensus; Genitalia
PubMed: 36630604
DOI: 10.1515/jpem-2022-0582 -
Hormone Research in Paediatrics 2023Disorders/differences of sex development (DSD) comprise a heterogeneous group of inborn conditions where the individual's sex chromosomes, gonads, and/or anatomical sex... (Review)
Review
BACKGROUND
Disorders/differences of sex development (DSD) comprise a heterogeneous group of inborn conditions where the individual's sex chromosomes, gonads, and/or anatomical sex are discordant. Since the Chicago Consensus Conference in 2005, multidisciplinary care has been implemented in specialised paediatric tertiary care centres and clinical practice has substantially changed towards a more holistic approach.
SUMMARY
Psychological support has become a key factor in the management of DSD. After paediatric care, one of the main challenges is the transition of patients to expert care in adulthood. Patients frequently experience difficulties in accessing specialised medical care in adulthood, resulting in loss to follow-up affecting the patients' physical and psychological health as well as quality of life. Clinical features and long-term outcomes are highly variable in most DSD conditions. Although medical care has improved, morbidity and mortality are increased in all conditions. A particular challenge in the care of DSD patients in adulthood is optimisation of fertility potential. Ideally, this is addressed already in adolescence and requires close interaction of not only paediatricians and adult endocrinologists but also urologists, andrologists or gynaecologists, and psychologists.
KEY MESSAGES
This review addresses issues relating to transition of DSD care from the paediatric to adult care as well as health-related challenges in adulthood in DSD.
Topics: Adolescent; Humans; Adult; Child; Disorders of Sex Development; Quality of Life; Transition to Adult Care; Fertility; Mental Health
PubMed: 36473446
DOI: 10.1159/000527433 -
Prenatal Diagnosis Oct 2020Prenatal diagnosis of sex discordance is a relatively new phenomenon. Prior to cell-free DNA testing, the diagnosis of a disorder of sexual differentiation was... (Review)
Review
Prenatal diagnosis of sex discordance is a relatively new phenomenon. Prior to cell-free DNA testing, the diagnosis of a disorder of sexual differentiation was serendipitous, either through identification of ambiguous genitalia at the midtrimester morphology ultrasound or discovery of genotype-phenotype discordance in cases where preimplantation genetic diagnosis or invasive prenatal testing had occurred. The widespread integration of cfDNA testing into modern antenatal screening has made sex chromosome assessment possible from 10 weeks of gestation, and discordant fetal sex is now more commonly diagnosed prenatally, with a prevalence of approximately 1 in 1500-2000 pregnancies. Early detection of phenotype-genotype sex discordance is important as it may indicate an underlying genetic, chromosomal or biochemical condition and it also allows for time-critical postnatal treatment. The aim of this article is to review cfDNA and ultrasound diagnosis of fetal sex, identify possible causes of phenotype-genotype discordance and provide a systematic approach for clinicians when counseling and managing couples in this circumstance.
Topics: Cell-Free Nucleic Acids; Disorders of Sex Development; Female; Genotype; Humans; Noninvasive Prenatal Testing; Phenotype; Pregnancy; Sex Determination Analysis; Sex Determination Processes; Ultrasonography, Prenatal
PubMed: 32125721
DOI: 10.1002/pd.5676 -
Journal of Ultrasound in Medicine :... Feb 2023In this review, we describe normal development of fetal genitalia throughout gestation as well as the identification of normal male and female genitalia on ultrasound.... (Review)
Review
In this review, we describe normal development of fetal genitalia throughout gestation as well as the identification of normal male and female genitalia on ultrasound. We use abnormal and ambiguous genitalia as illustrative tools to assist with the identification of normal genitalia and recognition of some of the most common abnormalities in external genitalia development.
Topics: Pregnancy; Humans; Male; Female; Disorders of Sex Development; Genitalia; Prenatal Care; Genitalia, Female; Ultrasonography
PubMed: 35975397
DOI: 10.1002/jum.16080 -
Frontiers in Endocrinology 2021Disorders of Sex Development (DSD) are anomalies occurring in the process of fetal sexual differentiation that result in a discordance between the chromosomal sex and... (Review)
Review
Disorders of Sex Development (DSD) are anomalies occurring in the process of fetal sexual differentiation that result in a discordance between the chromosomal sex and the sex of the gonads and/or the internal and/or external genitalia. Congenital disorders affecting adrenal function may be associated with DSD in both 46,XX and 46,XY individuals, but the pathogenic mechanisms differ. While in 46,XX cases, the adrenal steroidogenic disorder is responsible for the genital anomalies, in 46,XY patients DSD results from the associated testicular dysfunction. Primary adrenal insufficiency, characterized by a reduction in cortisol secretion and overproduction of ACTH, is the rule. In addition, patients may exhibit aldosterone deficiency leading to salt-wasting crises that may be life-threatening. The trophic effect of ACTH provokes congenital adrenal hyperplasia (CAH). Adrenal steroidogenic defects leading to 46,XX DSD are 21-hydroxylase deficiency, by far the most prevalent, and 11β-hydroxylase deficiency. Lipoid Congenital Adrenal Hyperplasia due to StAR defects, and cytochrome P450scc and P450c17 deficiencies cause DSD in 46,XY newborns. Mutations in SF1 may also result in combined adrenal and testicular failure leading to DSD in 46,XY individuals. Finally, impaired activities of 3βHSD2 or POR may lead to DSD in both 46,XX and 46,XY individuals. The pathophysiology, clinical presentation and management of the above-mentioned disorders are critically reviewed, with a special focus on the latest biomarkers and therapeutic development.
Topics: Adrenal Hyperplasia, Congenital; Adrenal Insufficiency; Disorders of Sex Development; Humans; Sex Differentiation
PubMed: 34987475
DOI: 10.3389/fendo.2021.770782 -
Hormone Research in Paediatrics 2023DSD encompass a wide range of pathologies that impact gonad formation, development, and function in both 46,XX and 46,XY individuals. The majority of these conditions... (Review)
Review
BACKGROUND
DSD encompass a wide range of pathologies that impact gonad formation, development, and function in both 46,XX and 46,XY individuals. The majority of these conditions are considered to be monogenic, although the expression of the phenotype may be influenced by genetic modifiers. Although considered monogenic, establishing the genetic etiology in DSD has been difficult compared to other congenital disorders for a number of reasons including the absence of family cases for classical genetic association studies and the lack of evolutionary conservation of key genetic factors involved in gonad formation. In recent years, the widespread use of genomic sequencing technologies has resulted in multiple genes being identified and proposed as novel monogenic causes of 46,XX and/or 46,XY DSD.
SUMMARY
In this review, we will focus on the main genomic findings of recent years, which consists of new candidate genes or loci for DSD as well as new reproductive phenotypes associated with genes that are well established to cause DSD. For each gene or loci, we summarize the data that are currently available in favor of or against a role for these genes in DSD or the contribution of genomic variants within well-established genes to a new reproductive phenotype.
KEY MESSAGES
Based on this analysis, we propose a series of recommendations that should aid the interpretation of genomic data and ultimately help to improve the accuracy and yield genetic diagnosis of DSD.
Topics: Humans; Phenotype; Disorders of Sex Development
PubMed: 34963118
DOI: 10.1159/000521381 -
Revista Internacional de Andrologia 2019
Topics: Disorders of Sex Development; Female; Gender Identity; Genes; Humans; Male
PubMed: 31477482
DOI: 10.1016/j.androl.2019.04.005