46 Xy Disorder; Etiological Classification of the Patient with Sex Development (original) (raw)
Related papers
The Journal of Clinical Endocrinology & Metabolism, 2016
Context: The prevalence of phenotypic females with a 46,XY karyotype is low, thus current knowledge about age and clinical presentation at diagnosis is sparse even for the most frequent conditions, androgen insensitivity syndrome (AIS), and gonadal dysgenesis. Objective: To estimate incidence, prevalence, age at diagnosis, and clinical presentation at diagnosis in 46,XY females. Design and Setting: A nationwide study covering all known females with a 46,XY karyotype in Denmark since 1960. The diagnosis of 46,XY disorder of sex development (DSD) was determined by medical record evaluation, data from the Danish National Patient Registry, and genetic testing, if available. Patients: A total of 166 females registered as 46,XY females in the Danish Cytogenetic Central Registry were identified. Results: A total of 124 females were classified as having 46,XY DSD, 78 with AIS and 25 with gonadal dysgenesis, whereas the remaining subjects had a variety of different diagnoses. The prevalence of 46,XY females was 6.4 per 100 000 live born females, and for AIS and gonadal dysgenesis, it was 4.1 and 1.5 per 100 000, respectively. Median age at diagnosis was 7.5 years (95% confidence interval, 4.0-13.5; range, 0-34 y) in AIS and 17.0 years (95% confidence interval, 15.5-19.0; range, 0-28 y) in gonadal dysgenesis (P ϭ .001). Clinical presentation was dependent on cause of DSD. Conclusions: The first estimate on prevalence of 46,XY females is 6.4 per 100 000 live born females. The presentation of AIS and gonadal dysgenesis is distinctly different, with AIS being diagnosed during childhood and gonadal dysgenesis during pubertal years. The presenting phenotype is dependent on the cause of 46,XY DSD.
46,XY disorders of sex development (DSD)
Clinical Endocrinology, 2009
The term disorders of sex development (DSD) includes congenital conditions in which development of chromosomal, gonadal or anatomical sex is atypical. Mutations in genes present in X, Y or autosomal chromosomes can cause abnormalities of testis determination or disorders of sex differentiation leading to 46,XY DSD. Detailed clinical phenotypes allow the identification of new factors that can alter the expression or function of mutated proteins helping to understand new undisclosed biochemical pathways. In this review we present an update on 46,XY DSD aetiology, diagnosis and treatment based on extensive review of the literature and our three decades of experience with these patients.
A female with 46, XY Disorder of Sexual Development with normal SRY gene sequence: A case report
Background: Disorders of sex development (DSD) are a medical condition that affects the normal process of sexual Various of the genes needed for gonad development have been identified by investigation of patients with disorders sex development (DSD).Phenotypes of patients with 46,XY DSD range from atonalism in female phenotype with complete external genitalia to male phenotype with testicular regression. Individuals with 46,XYagonadiam show a wide range of clinical features and in some cases, there is not a clear diagnosis for this patients. We presented the clinical and molecular study a patient with 46,XY female without gonadal tissue. Case presentation: A 27-year-old female was attended to our center because of primary amenorrhea. Ultrasonography did not show gonadal tissue including Mullerian structures, uterus, and Wolffian structures. Also, the patient had not streak gonad. We performed cytogenetic study and molecular analysis, including automated sequencing of the entire coding region of SRY gene, in the patient with agonadism. Our result showed 46,XY karyotype. Also, we noticed that molecular mutations in SRY are not identified as a cause of DSD female without a gonadal tissue. Laboratory examination showed that this case is a unique patient with 46,XYfemale agonadism that has no association with previously described. Conclusions: The present case was a patient with 46, XYagonadism without hormonal or kidney defect and we did not detect mutation in SRY gene. To our knowledge, this case is a unique patient with 46,XYagonadism that has no association with previously described. So this case would be helpful for clinicians to assess 46,XY female patients without gonadal tissue.
Clinical profile of 93 cases of 46, XY disorders of sexual development in a referral center
International braz j urol, 2015
The term DSD refers to disorders that affect the normal process of sexual development causing disagreement between chromosomal, gonadal and phenotypic sex, and this study aimed to describe the clinical profile of a group with DSD 46, XY joined on DSD Clinic of Hospital of Salvador, Bahia Clinics. It was a retrospective study of medical records of survey data of 93 patients with DSD 46, XY. Among the patients studied 50.5% had no defined etiology and 20.4% had androgen insensitivity syndrome (AIS), 63.4% had been initially recorded in males, 31 (33.3%) in females, being that in two it was necessary to reassignment. All patients with complete AIS pure gonadal dysgenesis and had female genitalia. Others have been diagnosed with genital ambiguity or severe hypospadias and cryptorchidism. The gonads were palpable at the first consultation in 75.3% of patients. It is important to establish an active surveillance program for these patients. The first assessment took place before the age of ten in more than 50% of cases, which shows that much needs to be done for medical education and community about the DSD. Because the phenotypic variability of sexual development disorders was noted that the clinical profile of patients studied ranged between different etiologies, including hindering the diagnostic conclusion of these individuals.
Integrating clinical and genetic approaches in the diagnosis of 46,XY disorder of sex development
Endocrine Connections
Objective: 46,XY differences and/or disorders of sex development (DSD) are clinically and genetically heterogeneous conditions. Although complete androgen insensitivity syndrome has a strong genotype-phenotype correlation, the other types of 46,XY DSD are less well-defined and thus the precise diagnosis is challenging. This study focused on comparing the relationship between clinical assessment and genetic findings in a cohort of well-phenotyped patients with 46,XY DSD. Design: The study was an analysis of clinical investigations followed by genetic testing performed on 35 patients presenting to a single center. Methods: The clinical assessment included: external masculinisation score (EMS), endocrine profiling and radiological evaluation. Array-comparative genomic hybridization (array-CGH) and sequencing of DSD-related genes were performed. Results: Using an integrated approach, reaching the definitive diagnosis was possible in 12 children. The correlation between clinical and gene...
Journal of Pediatric and Adolescent Gynecology, 2015
Study Objective: The aim of our study was to determine the etiologic distribution of 46,XX disorder of sexual development (DSD) according to the new DSD classification system and to evaluate the clinical features of this DSD subgroup in our patient cohort. Participants: The evaluation criteria and clinical findings of 95 46,XX patients were described by clinical presentation, gonadal morphology, genital anatomy, associated dysmorphic features, presence during prenatal period with/without postnatal virilization, hormonal characteristics, and presence or absence of steroidogenic defects among 319 patients with DSD. Results: Types and ratios of each presentation of our 95 patients with 46,XX DSD were as follows: 82 had androgen excess (86.3%): (74 had classical congenital adrenal hyperplasia, 2 had CAH variant possibility of P450-oxidoreductase gene defect), 6 had disorders of ovarian development (6.3%): (1 patient had gonadal dysgenesis with virilization at birth with bilateral streak gonad, 4 patients had complete gonadal dysgenesis, and 1 patient had ovotesticular DSD) and 7 had other 46,XX DSD. Two sisters, who had 46,XX complete gonadal dysgenesis,were diagnosed with Perrault Syndrome with ovarian failure due to streak gonads and associated with sensorineural deafness. Conclusion: 46,XX DSD are usually derived from intrauterine virilization and CAH is the most common cause of 46,XX DSD due to fetal androgen exposure.
Non-Syndromic 46,XY Disorders of Sex Development
Acta Medica Martiniana, 2018
Non-syndromic 46,XY DSD (disorders of sex development) represent a phenotypically diversiform group of disorders. We focus on the association between gene variants and the most frequent types of non-syndromic 46,XY DSD, options of molecular genetic testing which has surely taken its place in diagnostics of DSD in the past couple of years. We emphasize the need of molecular genetic testing in individuals with non-syndromic 46,XY DSD in Slovak Republic.
Management of 46,XY Differences/Disorders of Sex Development (DSD) Throughout Life
Endocrine Reviews, 2019
Differences/disorders of sex development (DSD) are a heterogeneous group of congenital conditions that result in discordance between an individual’s sex chromosomes, gonads, and/or anatomic sex. Advances in the clinical care of patients and families affected by 46,XY DSD have been achieved since publication of the original Consensus meeting in 2006. The aims of this paper are to review what is known about morbidity and mortality, diagnostic tools and timing, sex of rearing, endocrine and surgical treatment, fertility and sexual function, and quality of life in people with 46,XY DSD. The role for interdisciplinary health care teams, importance of establishing a molecular diagnosis, and need for research collaborations using patient registries to better understand long-term outcomes of specific medical and surgical interventions are acknowledged and accepted. Topics that require further study include prevalence and incidence, understanding morbidity and mortality as these relate to sp...
Challenges in the Diagnosis of XY Differences of Sexual Development
Medicina
Background: We report the clinical case of female patient with 46,XY difference of sexual development (DSD) and discuss the challenges in the differential diagnosis between complete gonadal dysgenesis (also called Swyer syndrome) and complete androgen insensitivity syndrome. Case Presentation: The patient’s with primary amenorrhea gynaecological examination and magnetic resonance imaging (MRI) revealed the absence of the uterus and a very short vagina. Two sclerotic structures, similar to ovaries, were recognised bilaterally in the iliac regions. Hormonal assay tests revealed hypergonadotropic hypogonadism and the testosterone level was above normal. The karyotype was 46,XY and a diagnosis of Swyer syndrome was made. At the age of 41, the patient underwent a gynaecological review and after evaluating her tests and medical history, the previous diagnosis was questioned. Therefore, a molecular analysis of sex-determining region Y (SRY) and androgen receptor (AR) genes was made and the...