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 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 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 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.

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 Ovotesticular Disorder of Sex Development: An Unusual Presentation

2019 ◽  
Vol 9 ◽  
pp. 34 ◽  
Author(s):  
Meltem Özdemir ◽  
Rasime Pelin Kavak ◽  
Ihsan Yalcinkaya ◽  
Kursat Guresci
Keyword(s):  
Unusual Case ◽  
Disorders Of Sex Development ◽  
Ambiguous Genitalia ◽  
Normal Male ◽  
Genital Organ ◽  
Rare Form ◽  
Disorder Of Sex Development ◽  
Breast Enlargement ◽  
Sex Development ◽  
Bilateral Breast Enlargement

Disorder of sex development is an inclusive term that refers to any problem where the genital organ is atypical in relation to chromosomes or gonads. Ovotesticular disorder of sex development, which is formerly known as “true hermaphroditism,” is the most rare form among all disorders of sex development in humans. It is characterized by the simultaneous presence of both ovarian and testicular tissues in the same individual and characteristically presents with ambiguous genitalia in neonates or infants. Herein, we present an unusual case of a 19-year-old individual with phenotypically nearly normal male genitalia who presented with the complaint of bilateral breast enlargement.

scholarly journals First experience of a single-stage simultaneous single access endoscopic surgery in a child with a disorder of sex development

2013 ◽  
Vol 94 (2) ◽  
pp. 247-250
Author(s):  
N R Akramov ◽  
A K Zakirov
Keyword(s):  
Endoscopic Surgery ◽  
Abdominal Cavity ◽  
Disorders Of Sex Development ◽  
Point Of View ◽  
Single Stage ◽  
Service Needs ◽  
Disorder Of Sex Development ◽  
Single Access ◽  
Sex Development ◽  
Simultaneous Surgery

A clinical case and treatment of a disorder of sex development (46XX, ovotesticular type) who underwent a simultaneous surgery including diagnostic laparoscopy using the single access endoscopic surgery followed by gonadectomy and the single-stage feminizing genitoplasty, is described. Endocrinology service needs for determination of treatment approach in children with disorders of sex development are closely entwined with capabilities of endoscopic surgery, particularly laparoscopy. It’s necessary to quickly determine the gonadal structure due to the high risk of malignancies while examining these patients. The most useful method is the direct visualization of the gonads in the abdominal cavity by laparoscopy. In these cases the single access endoscopic surgery technique reduces the trauma and is welcomed in pediatrics. From our point of view, the preference for the patients with disorders of sex development management with expected gonadal dysgenesis must be given to a single access endoscopic surgery.

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