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 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 Genital ambiguity in a 46,XY individual: case report

2020 ◽  
Vol 10 (3) ◽  
Author(s):  
Jadi Colaço ◽  
Andressa Tochetto ◽  
Amanda Magdaleno ◽  
Carolina Moreira ◽  
Tadiela Rodrigues ◽  
...  
Keyword(s):  
Intrauterine Growth Restriction ◽  
Disorders Of Sex Development ◽  
Individual Case ◽  
Ambiguous Genitalia ◽  
Intrauterine Growth ◽  
Individual Case Report ◽  
Sex Development ◽  
Sex Assignment ◽  
Genital Ambiguity ◽  
Male Sex

Genital ambiguity is part of the disorders of sex development. Its prompt recognition and early and precise etiological investigation are fundamental to its proper management. A patient with ambiguous genitalia, born cesarean due to severe pre-eclampsia and oligohydramnios at 34 weeks and 2 days, 1505g, considered small for gestational age (SGA). Examination showed an 1.9cm falus, penoscrotal urethral meatus and bilaterally palpable gonads. In the investigation, he presented normal testosterone (T), androstenedione (A) and dihydrotestosterone (DHT); T/DHT ratio of 9.7 (<10) and T/A of 7.4 (>0.8) and karyotype 46,XY. It was decided for male sex assignment. Testosterone stimulus test was performed, showing penis enlargement of 1.5cm. Intrauterine growth restriction is a considerable risk factor for genital ambiguity in individuals 46,XY. This seems to be the etiology in this case, given its normal hormonal and cytogenetic evaluation and the response to the testosterone stimulus. Disorders of Sex Development, Fetal Growth Retardation, Testis.

scholarly journals Genital ambiguity in a 46,XY individual: case report

2020 ◽  
Vol 10 (3) ◽  
Author(s):  
Jadi Colaço ◽  
Andressa Tochetto ◽  
Amanda Magdaleno ◽  
Carolina Moreira ◽  
Tadiela Rodrigues ◽  
...  
Keyword(s):  
Intrauterine Growth Restriction ◽  
Disorders Of Sex Development ◽  
Individual Case ◽  
Ambiguous Genitalia ◽  
Intrauterine Growth ◽  
Individual Case Report ◽  
Sex Development ◽  
Sex Assignment ◽  
Genital Ambiguity ◽  
Male Sex

Genital ambiguity is part of the disorders of sex development. Its prompt recognition and early and precise etiological investigation are fundamental to its proper management. A patient with ambiguous genitalia, born cesarean due to severe pre-eclampsia and oligohydramnios at 34 weeks and 2 days, 1505g, considered small for gestational age (SGA). Examination showed an 1.9cm falus, penoscrotal urethral meatus and bilaterally palpable gonads. In the investigation, he presented normal testosterone (T), androstenedione (A) and dihydrotestosterone (DHT); T/DHT ratio of 9.7 (<10) and T/A of 7.4 (>0.8) and karyotype 46,XY. It was decided for male sex assignment. Testosterone stimulus test was performed, showing penis enlargement of 1.5cm. Intrauterine growth restriction is a considerable risk factor for genital ambiguity in individuals 46,XY. This seems to be the etiology in this case, given its normal hormonal and cytogenetic evaluation and the response to the testosterone stimulus. Disorders of Sex Development, Fetal Growth Retardation, Testis.

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 Approach to the Newborn with Disorders of Sex Development

2021 ◽  
Author(s):  
Pierre Sinajon ◽  
Riyana Babul-Hirji ◽  
David Chitayat
Keyword(s):  
Physical Examination ◽  
Dna Analysis ◽  
Chromosomal Abnormalities ◽  
Disorders Of Sex Development ◽  
Sexual Relationships ◽  
Visual Aids ◽  
Gender Assignment ◽  
Sex Development ◽  
Internal Genitalia ◽  
And Gender

The birth of a baby with atypical external and/or internal genitalia is a family crisis that requires the interaction between multidisciplinary group physicians including pediatric urologists, pediatric endocrinologists, medical geneticists, genetic counsellors, gynecologists, psychologists/psychiatrists and social workers with expertise in this field. Following each of the specialists’ assessment the findings, plan for investigations, the psychosocial situation and gender assignment and treatment should be reviewed among the group members prior to meeting the family. Following the group discussion the information should be presented to the parents using easy to understand language with visual aids and their questions should be answered so that they can make an informed decision regarding gender assignment, surgical options, where medically indicated, and hormone treatment. Potential for sexual relationships and fertility preservation should be discussed. The birth of a baby with abnormalities may be associated with mother/parental guilt feeling and the point that there is nothing that they did or did not do that caused the newborn’s condition. Disorder of sex development (DSD) can be divided into isolated and non-isolated according to the finding on physical examination and should be further classified into abnormalities of chromosomal abnormalities, gonadal defect, internal and external genital abnormalities. Investigations should be directed by the physical examination findings and the results of the radiological, endocrine and genetic investigation including FISH analysis, microarray analysis, DNA analysis using a variety of DSD panels and, when required, whole exome/genome sequencing.

Sign in / Sign up

Export Citation Format

Share Document