Gender Assignment, Reassignment and Outcome in Disorders of Sex Development: Update of the 2005 Consensus Conference

2016 ◽  
Vol 85 (2) ◽  
pp. 112-118 ◽  
Author(s):  
Heino F.L. Meyer-Bahlburg ◽  
Katharine Baratz Dalke ◽  
Sheri A. Berenbaum ◽  
Peggy T. Cohen-Kettenis ◽  
Melissa Hines ◽  
...  
Keyword(s):  
Disorders Of Sex Development ◽  
Consensus Conference ◽  
Gender Assignment ◽  
Sex Development

scholarly journals Multidisciplinary Management of Disorders of Sex Development in Indonesia, A Prototype in Developing Country

2017 ◽  
Vol 3 (1) ◽  
pp. 17 ◽  
Author(s):  
Nurin Aisyiyah Listyasari ◽  
Ardy Santosa ◽  
Achmad Zulfa Juniarto ◽  
Sultana MH Faradz
Keyword(s):  
Quality Of Life ◽  
Disorders Of Sex Development ◽  
Multidisciplinary Management ◽  
Improve Quality ◽  
Gender Assignment ◽  
Androgen Excess ◽  
Comprehensive Management ◽  
Sex Development ◽  
Management Protocol

Background : Disorder of sex development (DSD) patients require comprehensive management to improve quality of life. A standardized management protocol for patients in Indonesia is not yet available resulting in patients infrequently received a proper diagnosis. This study reported a multidisciplinary management DSD in Indonesia based on minimal diagnostic facilities and expertise in developing country.Objectives : The purpose of the study is to review the management of DSD patients in Indonesia relates to providing appropriate gender assignment and to improving patients quality of life.Methodology : We analyzed the records of DSD patient admitted to the division of Human Genetics Center for Biomedical Research (CEBIOR) Faculty of Medicine Diponegoro University, Semarang, Indonesia from May 2004 - December 2015. Data were collected and analyzed for physical examination, family pedigree karyotyping, hormonal assays and  psychosocial.  Other examination such as ultrasonography, Xray and Cytoscopy were also recorded for selected cases. Bimonthly, Sexual Adjustment Team (SAT) meeting was recorded.Results : From the total 617 DSD cases we found 426 cases (69,04 %) with 46, XY DSD, 117 cases (18,96%) with 46,XX DSD and 74 cases (12%) with sex chromosome DSD. Most of the patients in the group of 46, XY DSD are Unknown Male Undervirilization (UMU) with 256 cases (60.09%). As the majority cases of 46, XX DSD was Congenital Adrenal Hyperplasia with 81 cases (69.23%). The remaining cases were Androgen Action Disorder (AAD) with 140 cases (32.86%), 46, XY DSD Gonadal Dysgenesis with 30 cases (7.04%), Androgen Excess Disorders with 3 cases (2.56%), Defect of Mullerian Development with 19 cases (16,24%), 3 cases (2.56%) of Androgen Excess and 3 cases (2.56%) of 46, XX Gonadal Dysgenesis.Conclusion : Comprehensive management for DSD Patients help patient in diagnosis, gender assignment and support patient to improve quality of life. This multidisciplinary of DSD team is the only team in Indonesia that can be used as a model for other center in Indonesia as well as other developing countries with minimal diagnostic facilities.

Disorders of sex development

2017 ◽  
Author(s):  
David F.M. Thomas
Keyword(s):  
Disorders Of Sex Development ◽  
Ambiguous Genitalia ◽  
Surgical Reconstruction ◽  
Adrenal Hyperplasia ◽  
Specialist Care ◽  
Gender Assignment ◽  
Developmental Abnormalities ◽  
Sex Development

The aetiology of disorders of sex development (DSD) is multifactorial and includes chromosomal defects, developmental abnormalities of the gonads, and defects of hormonal synthesis and expression. Infants born with ambiguous genitalia require urgent investigation because of the risk of hyponatraemia associated with congenital adrenal hyperplasia (CAH) and to permit an informed decision on gender assignment. CAH is the commonest form of DSD, accounting for around 80% of all infants born with ambiguous genitalia. Despite controversy regarding timing and consent, feminizing genitoplasty in early childhood remains the accepted management for girls with significant clitoromegaly. Surgical reconstruction for 46XY DSD is guided by several factors, notably the size of the phallus and gonadal phenotype. The majority of individuals with disorders of sex development will require ongoing specialist care and long-term multidisciplinary follow-up and support.

scholarly journals The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency

2009 ◽  
Vol 161 (2) ◽  
pp. 237-242 ◽  
Author(s):  
Birgit Köhler ◽  
Lin Lin ◽  
Inas Mazen ◽  
Cigdem Cetindag ◽  
Heike Biebermann ◽  
...  
Keyword(s):  
Adrenal Insufficiency ◽  
Mutational Analysis ◽  
Disorders Of Sex Development ◽  
Inhibin B ◽  
Binding Motif ◽  
Undescended Testes ◽  
Gender Assignment ◽  
Steroidogenic Factor 1 ◽  
Sex Development ◽  
Penoscrotal Hypospadias

ObjectiveHypospadias is a frequent congenital anomaly but in most cases an underlying cause is not found. Steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) is a key regulator of human sex development and an increasing number of SF-1 (NR5A1) mutations are reported in 46,XY disorders of sex development (DSD). We hypothesized that NR5A1 mutations could be identified in boys with hypospadias.Design and methodsMutational analysis of NR5A1 in 60 individuals with varying degrees of hypospadias from the German DSD network.ResultsHeterozygous NR5A1 mutations were found in three out of 60 cases. These three individuals represented the most severe end of the spectrum studied as they presented with penoscrotal hypospadias, variable androgenization of the phallus and undescended testes (three out of 20 cases (15%) with this phenotype). Testosterone was low in all three patients and inhibin B/anti-Müllerian hormone (AMH) were low in two patients. Two patients had a clear male gender assignment. Gender re-assignment to male occurred in the third case. Two patients harbored heterozygous nonsense mutations (p.Q107X/WT, p.E11X/WT). One patient had a heterozygous splice site mutation in intron 2 (c.103-3A/WT) predicted to disrupt the main DNA-binding motif. Functional studies of the nonsense mutants showed impaired transcriptional activation of an SF-1-responsive promoter (Cyp11a). To date, adrenal insufficiency has not occurred in any of the patients.ConclusionsSF-1 (NR5A1) mutations should be considered in 46,XY individuals with severe (penoscrotal) hypospadias, especially if undescended testes, low testosterone, or low inhibin B/AMH levels are present. SF-1 mutations in milder forms of idiopathic hypospadias are unlikely to be common.

scholarly journals THE ROLE OF UROLOGISTS IN MANAGEMENT OF DISORDERS OF SEX DEVELOPMENT

2012 ◽  
Vol 19 (1) ◽  
Author(s):  
Ilham Wahyudi ◽  
Irfan Wahyudi ◽  
Kanadi Sumadipradja ◽  
Jose RL Batubara ◽  
Arry Rodjani
Keyword(s):  
Multidisciplinary Team ◽  
Disorders Of Sex Development ◽  
Androgen Insensitivity Syndrome ◽  
Therapeutic Management ◽  
Gender Assignment ◽  
Disorder Of Sex Development ◽  
Sex Development ◽  
Diagnostic Management ◽  
One Year

Objective: To evaluate disorder of sex development (DSD) profile at Cipto Mangunkusumo Hospital (RSCM), the management profile, and the role of urologist on diagnostic and therapeutic management. Material & method: We retrospectively collected data from medical record of all DSD cases managed by pediatric endocrinologist, urologist, obstetric gynaecologist at RSCM from January 2002 up to December 2009. 2006 IICP criteria was used as classification. The management profile and the role of urologist were evaluated. Results: there were 133 DSD cases with the majority of cases was congenital adrenal hyperplasia (CAH) followed by androgen insensitivity syndrome (AIS). Most of the cases were diagnosed before one year old and other on pubertal period. Karyotyping, laboratory examination, ultrasonography, genitography, uretrocystoscopy, kolposcopy, diagnostic laparascopy were performed as diagnostic management. Gender assignment was performed by multidisciplinary team. Masculinizing surgery, feminizing surgery, and gonadectomy was done as therapeutic management. Conclusion: The majority case on RSCM’s DSD profile was CAH. The management was performed by multidisciplinary team. Gender assignment decision should be based upon thorough diagnostic evaluation. The urologist has important role on diagnostic and therapeutic management. Keywords: Disorder of sex development, diagnostic management, gender assignment, therapeutic management, urologist.

scholarly journals Disorders/Differences of Sex Development Presenting in the Newborn With 46,XY Karyotype

2021 ◽  
Vol 9 ◽  
Author(s):  
Silvano Bertelloni ◽  
Nina Tyutyusheva ◽  
Margherita Valiani ◽  
Franco D'Alberton ◽  
Fulvia Baldinotti ◽  
...  
Keyword(s):  
Disorders Of Sex Development ◽  
Gender Assignment ◽  
Salt Wasting ◽  
Personalized Care ◽  
Sex Development ◽  
Sex Assignment ◽  
Differences Of Sex Development ◽  
Life Threatening

Differences/disorders of sex development (DSD) are a heterogeneous group of congenital conditions, resulting in discordance between an individual's sex chromosomes, gonads, and/or anatomic sex. The management of a newborn with suspected 46,XY DSD remains challenging. Newborns with 46,XY DSD may present with several phenotypes ranging from babies with atypical genitalia or girls with inguinal herniae to boys with micropenis and cryptorchidism. A mismatch between prenatal karyotype and female phenotype is an increasing reason for presentation. Gender assignment should be avoided prior to expert evaluation and possibly until molecular diagnosis. The classic diagnostic approach is time and cost-consuming. Today, a different approach may be considered. The first line of investigations must exclude rare life-threatening diseases related to salt wasting crises. Then, the new genetic tests should be performed, yielding increased diagnostic performance. Focused imaging or endocrine studies should be performed on the basis of genetic results in order to reduce repeated and invasive investigations for a small baby. The challenge for health professionals will lie in integrating specific genetic information with better defined clinical and endocrine phenotypes and in terms of long-term evolution. Such advances will permit optimization of counseling of parents and sex assignment. In this regard, society has significantly changed its attitude to the acceptance and expansion beyond strict binary male and female sexes, at least in some countries or cultures. These management advances should result in better personalized care and better long-term quality of life of babies born with 46,XY DSD.

scholarly journals Gender identity, gender assignment and reassignment in individuals with disorders of sex development: a major of dilemma

2016 ◽  
Vol 39 (11) ◽  
pp. 1207-1224 ◽  
Author(s):  
A. D. Fisher ◽  
J. Ristori ◽  
E. Fanni ◽  
G. Castellini ◽  
G. Forti ◽  
...  
Keyword(s):  
Gender Identity ◽  
Disorders Of Sex Development ◽  
Gender Assignment ◽  
Sex Development

scholarly journals Disorders of Sex Development: Management of Gender Assignment in a Preterm Infant with Intrauterine Growth Restriction

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
Lucy D. Mastrandrea ◽  
Christine H. Albini ◽  
Ralph J. Wynn ◽  
Saul P. Greenfield ◽  
Luther K. Robinson ◽  
...  
Keyword(s):  
Preterm Infant ◽  
Intrauterine Growth Restriction ◽  
Disorders Of Sex Development ◽  
Definitive Diagnosis ◽  
Growth Restriction ◽  
Gender Assignment ◽  
Disorder Of Sex Development ◽  
Intrauterine Growth ◽  
Sex Development ◽  
And Gender

We describe how a gender specialist team managed the case of a disorder of sex development in a preterm infant where definitive diagnosis and gender assignment were delayed due to complications of prematurity, anemia, and severe intrauterine growth restriction.

scholarly journals 46,XY ovotesticular disorders of sex development: A therapeutic challenge

2017 ◽  
Vol 9 (4) ◽  
Author(s):  
Maria-Grazia Scarpa ◽  
Massimo Di Grazia ◽  
Gianluca Tornese
Keyword(s):  
Multidisciplinary Approach ◽  
Disorders Of Sex Development ◽  
Consensus Meeting ◽  
Gender Assignment ◽  
Disorder Of Sex Development ◽  
Therapeutic Challenge ◽  
Sex Development ◽  
Patient Gender

46,XY ovotesticular disorder of sex development is extremely rare and indicates the presence of both testis and ovary in the same patient. Gender assignment in newborns represents a therapeutic challenge. We describe and comment on our multidisciplinary approach, ten years after the Chicago consensus meeting on disorder of sex development.

scholarly journals Imaging Evaluation of Disorders of Sex Development

2020 ◽  
Vol 03 (02) ◽  
pp. 181-192
Author(s):  
Anu Eapen ◽  
Anuradha Chandramohan ◽  
Betty Simon ◽  
Tharani Putta ◽  
Reetu John ◽  
...  
Keyword(s):  
Sex Chromosome ◽  
Disorders Of Sex Development ◽  
Ambiguous Genitalia ◽  
Primary Amenorrhea ◽  
Main Role ◽  
Gender Assignment ◽  
Imaging Evaluation ◽  
Sex Development ◽  
Risk Of Malignancy

AbstractDisorders of sex development (DSD) refer to congenital conditions with a typical development of chromosomal, gonadal, or anatomic sex. In the revised classification of DSD, there are three categories based on karyotype: 46,XX DSD; 46,XY DSD; and sex chromosome DSD. Imaging, as part of a multidisciplinary approach to management of DSD, has a key role in gender assignment. The main role of imaging is to help in identifying the gonads and the Müllerian structures. Ultrasound is useful, especially in the neonate with ambiguous genitalia. Magnetic resonance imaging is a useful modality to locate and characterize the gonads in young girls with primary amenorrhea and also to identify streak gonads, which have a risk of malignancy.

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