DSD

hrp0084p2-303 | DSD

Multiple Malformations Extending the Phenotypic Spectrum of Antley–Bixler Syndrome in a Patient with P450 Oxidoreductase Deficiency due to Two Novel Mutations of the POR Gene

hrp0084p2-304 | DSD

A Novel Homozygous Missense Mutation in RSPO1 Associated with a Familial Case of 46,XX Testicular and Ovotesticular DSD

hrp0084p2-305 | DSD

‘www.steroidogenicfactor-1.info’: An Online Database of Variants in Steroidogenic Factor 1 (SF-1, NR5A1) and Resource for Families and Professional Healthcare Providers

hrp0084p2-306 | DSD

Two Testes and 2X Chromosomes: Why?

hrp0084p2-307 | DSD

Diagnostic Approach to a Newborn with Suspected DSD: Results From an International Survey of Specialist Care for DSD

hrp0084p2-308 | DSD

MAP3K1 Mutation in a Patient with Complete XY Gonadal Dysgenesis

hrp0084p2-309 | DSD

Alterations in Germ Cell Memory and Mini-Puberty Induce Infertility in Cryptorchidism

hrp0084p2-310 | DSD

Management of Gonads in Adults with Androgen Insensitivity: An International Survey

hrp0084p2-311 | DSD

The Localisation of Cells with XX and XY in Gonadal Tissues Associated with Ovotesticular Disorder of Sexual Development with a 46,XX/46,XY Karyotype

hrp0084p2-312 | DSD

Birth Weight in Different Aetiologies of Disorder of Sex Development

hrp0084p2-313 | DSD

A Novel Human CYP19A1 Deletion-Insertion Mutation Reveals that the C-terminus of the Aromatase Protein is Crucial for its Activity

hrp0084p2-314 | DSD

Pubertal Virilization in Two Unrelated XY Teenagers with Female Phenotype due to NR5A1/SF-1 Gene Mutation

hrp0084p2-315 | DSD

Chimerism in a Teenager with Ovotesticular Disorder of Sexual Development

hrp0084p2-316 | DSD

Partial Androgen Insensitivity: Syndrome or Symptoms?

hrp0084p2-317 | DSD

Next-Generation Sequencing as a Rapid Molecular Diagnosis in Patients with 46,XY Disorder of Sex Development

hrp0084p2-318 | DSD

When, if Ever, Should the Müllerian Remnants be Removed from Subjects with Mixed Gonadal Dysgenesis Raised as Males?

hrp0084p2-319 | DSD

Gonadotropin Surge During the Early Postnatal Activation Period in 46,XX Testicular/Ovotesticular Disorder of Sex Development Patients

hrp0084p2-320 | DSD

The Evaluation of AR and SRD5A2 Gene Mutations in 87 Patients with 46, XY DSD Children in Turkey

hrp0084p2-321 | DSD

Familial Mutation of NR5A1/SF-1 Gene Associated with DSD and Spleen Agenesis: A New Syndrome?

hrp0084p2-322 | DSD

Clinical Spectrum of 45,X/46,XY Mosaicism and Variants in Children

hrp0084p2-323 | DSD

Chromosomal Variations in Children and Adolescents with Gender Dysphoria: Is Routine Karyotyping Indicated?

hrp0084p2-324 | DSD

DSD 46,XY and Serum Steroid Profile Ambiguity due to Combined 17-Beta Hydroxysteroid Dehydrogenase/21-Hydroxylase Deficiencies

hrp0084p2-325 | DSD

Frequency of Cryptorchidism and Age at Operation in Helsinki Area between 2004 and 2014

hrp0084p2-326 | DSD

Prevalence of Partial Androgen Insensitivity Syndrome in 3 Cohorts of 46,XY Children Presenting with Isolated Hypospadias, Isolated Micropenis or Isolated Persistent Pubertal Gynecomastia

hrp0084p2-327 | DSD

ESPE Abstracts

54th Annual ESPE (ESPE 2015)

Poster Category 2

Multiple Malformations Extending the Phenotypic Spectrum of Antley–Bixler Syndrome in a Patient with P450 Oxidoreductase Deficiency due to Two Novel Mutations of the POR Gene

A Novel Homozygous Missense Mutation in RSPO1 Associated with a Familial Case of 46,XX Testicular and Ovotesticular DSD

‘www.steroidogenicfactor-1.info’: An Online Database of Variants in Steroidogenic Factor 1 (SF-1, NR5A1) and Resource for Families and Professional Healthcare Providers

Two Testes and 2X Chromosomes: Why?

Diagnostic Approach to a Newborn with Suspected DSD: Results From an International Survey of Specialist Care for DSD

MAP3K1 Mutation in a Patient with Complete XY Gonadal Dysgenesis

Alterations in Germ Cell Memory and Mini-Puberty Induce Infertility in Cryptorchidism

Management of Gonads in Adults with Androgen Insensitivity: An International Survey

The Localisation of Cells with XX and XY in Gonadal Tissues Associated with Ovotesticular Disorder of Sexual Development with a 46,XX/46,XY Karyotype

Birth Weight in Different Aetiologies of Disorder of Sex Development

A Novel Human CYP19A1 Deletion-Insertion Mutation Reveals that the C-terminus of the Aromatase Protein is Crucial for its Activity

Pubertal Virilization in Two Unrelated XY Teenagers with Female Phenotype due to NR5A1/SF-1 Gene Mutation

Chimerism in a Teenager with Ovotesticular Disorder of Sexual Development

Partial Androgen Insensitivity: Syndrome or Symptoms?

Next-Generation Sequencing as a Rapid Molecular Diagnosis in Patients with 46,XY Disorder of Sex Development

When, if Ever, Should the Müllerian Remnants be Removed from Subjects with Mixed Gonadal Dysgenesis Raised as Males?

Gonadotropin Surge During the Early Postnatal Activation Period in 46,XX Testicular/Ovotesticular Disorder of Sex Development Patients

The Evaluation of AR and SRD5A2 Gene Mutations in 87 Patients with 46, XY DSD Children in Turkey

Familial Mutation of NR5A1/SF-1 Gene Associated with DSD and Spleen Agenesis: A New Syndrome?

Clinical Spectrum of 45,X/46,XY Mosaicism and Variants in Children

Chromosomal Variations in Children and Adolescents with Gender Dysphoria: Is Routine Karyotyping Indicated?

DSD 46,XY and Serum Steroid Profile Ambiguity due to Combined 17-Beta Hydroxysteroid Dehydrogenase/21-Hydroxylase Deficiencies

Frequency of Cryptorchidism and Age at Operation in Helsinki Area between 2004 and 2014

Prevalence of Partial Androgen Insensitivity Syndrome in 3 Cohorts of 46,XY Children Presenting with Isolated Hypospadias, Isolated Micropenis or Isolated Persistent Pubertal Gynecomastia

A Novel Mutation of Anti-Mullerian Hormone Receptor Gene in a Male with Persistent Mullerian Duct Syndrome

BiosciAbstracts