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Patients with genital ambiguity referred without a sex definition: the relationship between clinical picture and defined sex of rearing

Jornal de pediatria, 2024-05

2024

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Severe impact of late diagnosis of congenital adrenal hyperplasia on gender identity, sexual orientation and function: case report and review of the literature

Frontiers in genetics, 2022-10, Vol.13

2022

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Fixing Sex: Intersex, Medical Authority, and Lived Experience

Karkazis, Katrina

1, 2008

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3β-Hydroxysteroid Dehydrogenase Type 2 (3βHSD2) Deficiency due to a Novel Compound Heterozygosity of a Missense Mutation (p.Thr259Met) and Frameshift Deletion (p.Lys273ArgFs7) in an Undervirilized Infant Male with Salt Wasting

Sexual development, 2022-01, Vol.16 (1), p.64-69

2022

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Molecular Genetics of Sex Determination

Wachtel, Stephen S

1, 1994

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Analysis of Presentations and Outcomes of Care of Children with Disorders of Sexual Development in a Nigerian Hospital

Journal of pediatric & adolescent gynecology, 2019-02, Vol.32 (1), p.21-26

2019

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Mutational analysis of the androgen receptor (NR3C4) gene in patients with 46,XY DSD

Gene, 2018-01, Vol.641, p.86-93

2018

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Management of disorders of sex development – With a focus on development of the child and adolescent through the pubertal years

Best Practice & Research Clinical Endocrinology & Metabolism, 2019-06, Vol.33 (3), p.101297-101297, Article 101297

2019

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Utilization of a shared decision-making tool in a female infant with congenital adrenal hyperplasia and genital ambiguity

Journal of pediatric endocrinology & metabolism : JPEM, 2019-06, Vol.32 (6), p.643

2019

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Ovotesticular Differences of Sex Development: Surgery or Not Surgery? That Is the Question

Frontiers in pediatrics, 2017-10, Vol.5, p.231-231

Scarpa, Maria-Grazia

2017

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Recommendations for the diagnosis and treatment of classic forms of 21-hydroxylase-deficient congenital adrenal hyperplasia

Anales de pediatría (Barcelona, Spain : 2003), 2017-08, Vol.87 (2), p.116.e1-116.e10

2017

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Case Report of Feminizing Genital Reconstruction in a Female with Congenital Adrenal Hyperplasia

Makedonski medicinski pregled, 2017-06, Vol.71 (2), p.131-135

2017

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Pragmatic approach to intersex, including genital ambiguity, in the newborn

Seminars in perinatology, 2017-06, Vol.41 (4), p.244-251

2017

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An update on prenatal diagnosis and treatment of congenital adrenal hyperplasia

Seminars in reproductive medicine, 2012-10, Vol.30 (5), p.396

2012

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Approach to the Infant with a Suspected Disorder of Sex Development

The Pediatric clinics of North America, 2015-08, Vol.62 (4), p.983-999

Wherrett, Diane K., MD, FRCPC

2015

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Update on the Management of Disorders of Sex Development

The Pediatric clinics of North America, 2012-08, Vol.59 (4), p.853-869

2012

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A clinical approach to diagnosis of ambiguous genitalia

Journal of Indian Association of Pediatric Surgeons, 2019-07, Vol.24 (3), p.162-169

2019

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Recomendaciones para el diagnóstico y tratamiento de pacientes con formas clásicas de hiperplasia suprarrenal congénita por déficit de 21-hidroxilasa

Anales de pediatría (Barcelona, Spain : 2003), 2017-08, Vol.87 (2), p.116.e1-116.e10

2017

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Screening of Y chromosome microdeletions in 46,XY partial gonadal dysgenesis and in patients with a 45,X/46,XY karyotype or its variants

BMC medical genetics, 2013-11, Vol.14 (1), p.115-115, Article 115

2013

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Continent cutaneous diversion and external genitalia reconstruction in a child with severe variety urogenital sinus and ambiguous genitalia

Journal of Indian Association of Pediatric Surgeons, 2015-04, Vol.20 (2), p.84-86

Khemchandani, Sajni

2015

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Prenatal diagnosis of P450 oxidoreductase deficiency (ORD): A disorder causing low pregnancy estriol, maternal and fetal virilization, and the Antley-Bixler syndrome phenotype

American journal of medical genetics, 2004-08, Vol.129A (2), p.105-112

2004

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A new classification for genital ambiguity and urogenital sinus anomalies

BJU international, 2005-03, Vol.95 (4), p.638-642

2005

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Management of children with disorders of sex development: 20-year experience in southern Thailand

World journal of pediatrics : WJP, 2014-05, Vol.10 (2), p.168-174

2014

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MIS/AMH in the assessment of cryptorchidism and intersex conditions

Molecular and cellular endocrinology, 2003-12, Vol.211 (1), p.91-98

2003

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Patients with genital ambiguity referred without a sex definition: the relationship between clinical picture and defined sex of rearing

Severe impact of late diagnosis of congenital adrenal hyperplasia on gender identity, sexual orientation and function: case report and review of the literature

Fixing Sex: Intersex, Medical Authority, and Lived Experience

3β-Hydroxysteroid Dehydrogenase Type 2 (3βHSD2) Deficiency due to a Novel Compound Heterozygosity of a Missense Mutation (p.Thr259Met) and Frameshift Deletion (p.Lys273ArgFs7) in an Undervirilized Infant Male with Salt Wasting

Molecular Genetics of Sex Determination

Association between Down Syndrome and Disorders of Sex Development: Report of Three Cases and Review of 188 Cases in the Literature

Analysis of Presentations and Outcomes of Care of Children with Disorders of Sexual Development in a Nigerian Hospital

Mutational analysis of the androgen receptor (NR3C4) gene in patients with 46,XY DSD

Management of disorders of sex development – With a focus on development of the child and adolescent through the pubertal years

Utilization of a shared decision-making tool in a female infant with congenital adrenal hyperplasia and genital ambiguity

Ovotesticular Differences of Sex Development: Surgery or Not Surgery? That Is the Question

Recommendations for the diagnosis and treatment of classic forms of 21-hydroxylase-deficient congenital adrenal hyperplasia

Case Report of Feminizing Genital Reconstruction in a Female with Congenital Adrenal Hyperplasia

Pragmatic approach to intersex, including genital ambiguity, in the newborn

An update on prenatal diagnosis and treatment of congenital adrenal hyperplasia

Approach to the Infant with a Suspected Disorder of Sex Development

Update on the Management of Disorders of Sex Development

A clinical approach to diagnosis of ambiguous genitalia

Recomendaciones para el diagnóstico y tratamiento de pacientes con formas clásicas de hiperplasia suprarrenal congénita por déficit de 21-hidroxilasa

Screening of Y chromosome microdeletions in 46,XY partial gonadal dysgenesis and in patients with a 45,X/46,XY karyotype or its variants

Continent cutaneous diversion and external genitalia reconstruction in a child with severe variety urogenital sinus and ambiguous genitalia

Prenatal diagnosis of P450 oxidoreductase deficiency (ORD): A disorder causing low pregnancy estriol, maternal and fetal virilization, and the Antley-Bixler syndrome phenotype

A new classification for genital ambiguity and urogenital sinus anomalies

Management of children with disorders of sex development: 20-year experience in southern Thailand

MIS/AMH in the assessment of cryptorchidism and intersex conditions

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