Cargando…

22q13 Duplication in Newborn With Dysmorphic Features: The Role of SOX10 in Disorders of Sex Development

Background: The 46,XX testicular disorder of sex development (DSD), also known as 46,XX male reversal, is a rare form of DSD and clinical phenotype shows complete sex reversal from female to male. The sex-determining region Y (SRY) gene can be identified in most 46,XX testicular DSD patients; howeve...

Descripción completa

Detalles Bibliográficos
Autores principales:	Hammoud, Batoul, Baldauff, Natalie Marie Hecht, Yatsenko, Svetlana, Witchel, Selma Feldman
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2021
Materias:	Pediatric Endocrinology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8089819/ http://dx.doi.org/10.1210/jendso/bvab048.1404

Ejemplares similares

SAT-068 Bewilderment! Sex Chromosome Non-Invasive Prenatal Screening (NIPS) Results Differ from Phenotype and Postnatal Karyotype
por: Perez-Garcia, Eliana Melissa, et al.
Publicado: (2020)

Longitudinal Health Care for Girls and Women With Turner Syndrome
por: Ghosh, Priyanka, et al.
Publicado: (2021)

OR05-5 Body Mass Index (BMI) as a Predictor of Bone Mineral Density (BMD) in Gender Diverse Youth
por: Rodriguez Gonzalez, Adriana, et al.
Publicado: (2022)

SAT-061 Severe Hypocalcemia in an Infant with Abnormal Microarray and Dysmorphic Features
por: Jo, Inha, et al.
Publicado: (2020)

SUN-284 DICER1 Mutations in Adolescent Girls: Clinicopathological Findings and Genetic Correlation
por: Perez, Eliana, et al.
Publicado: (2019)

MON-250 Chromosomal Microarray Analysis in Patients with Central Precocious Puberty Associated with Dysmorphic Features or Congenital Malformations
por: Valadares, Luciana, et al.
Publicado: (2019)

T-Cell Lymphopenia Detected by Newborn Screening in Two Siblings with an Xq13.1 Duplication
por: Rios, Xavier, et al.
Publicado: (2017)

The 46, XX Ovotesticular Disorder of Sex Development With Xq27.1q27.2 Duplication Involving the SOX3 Gene: A Rare Case Report and Literature Review
por: Zhuang, Jianlong, et al.
Publicado: (2021)

16q24.3 Microduplication in a Patient With Developmental Delay, Intellectual Disability, Short Stature, and Nonspecific Dysmorphic Features: Case Report and Review of the Literature
por: Bucerzan, Simona, et al.
Publicado: (2020)

A Case of 22q11 Deletion Syndrome (22q11DS) with a Panayiotopoulos Epileptic Pattern: Are Additional Copy-Number Variations a Possible Second Hit in Modulating the 22q11DS Phenotype?
por: Bertini, Veronica, et al.
Publicado: (2017)

Complex chromosomal rearrangement involving 15q11‐q13 interstitial triplication and duplication: A new case report of dysmorphic and neuropsychiatric features
por: Chilakamarri, Lekha, et al.
Publicado: (2022)

MON-268 A Rare Case of Primary Hypoaldosteronism in a Newborn
por: Mody, Armaiti, et al.
Publicado: (2019)

ODP385 False Negative in the Screening for Congenital Hypothyroidism in Twin Newborns
por: Sejas, Daniela Vargas, et al.
Publicado: (2022)

Case report: A Chinese boy with facial dysmorphism, immunodeficiency, livedo, and short stature syndrome
por: Jiang, Lihong, et al.
Publicado: (2022)

The Medical Home Concept and Congenital Adrenal Hyperplasia: A Comfortable Habitat!
por: Witchel, Selma Feldman
Publicado: (2010)

OR22-01 NF-κB Pathway Is Implicated in Thyroid Embryogenesis
por: Vanier, Stéphanie Larrivée, et al.
Publicado: (2020)

Candidate genes for obstructive sleep apnea in non-syndromic children with craniofacial dysmorphisms – a narrative review
por: Marincak Vrankova, Zuzana, et al.
Publicado: (2023)

OR07-1 Cord Blood Metabolomics: Association with Newborn Anthropometrics and C-Peptide across Ancestries
por: Kadakia, Rachel, et al.
Publicado: (2019)

Factors Affecting Thyroid Hormone Changes Over 1 Month After Birth in Preterm Newborns
por: Kim, Seulki, et al.
Publicado: (2021)

MON-259 Transient PTH Resistance and Vitamin D Deficiency in a Newborn with Hypocalcemic Seizure and Bacteremia
por: Fredette, Meghan, et al.
Publicado: (2019)

A Novel (Paternally Inherited) Duplication 13q31.3q32.3 in a 12-Year-Old Patient with Facial Dysmorphism and Developmental Delay
por: Atack, E., et al.
Publicado: (2014)

OR22-02 PTEN Hamartoma Tumor Syndrome in Pediatrics: Triggers for Evaluation and the Value of Surveillance
por: Baran, Julia, et al.
Publicado: (2020)

ODP375 Absence of Virilization With Completely Normal Phenotype in a Newborn Female With Salt-Wasting Classical CAH
por: Diramerian, Linda Garabet, et al.
Publicado: (2022)

OR10-02 Diagnosis of Severe GH Deficiency in Newborns: New Reference Range for the Preterm and Confirmation of the GH Cut-Off
por: Binder, Gerhard, et al.
Publicado: (2020)

OR22-05 Rare Biallelic Variants in Obesity-Related Genes in the Madrid Pediatric Obesity Cohort
por: Martos-Moreno, Gabriel Á, et al.
Publicado: (2020)

SAT-285 Role of Chromosome Microarray in Identifying a Genetic Cause of Undervirilized External Genitalia and Growth Delay in an Infant: 6p Duplication Associated with Short Stature and Micropenis
por: Paulo, Remberto, et al.
Publicado: (2019)

Hypoparathyroidism-retardation-dysmorphism syndrome—Clinical insights from a large longitudinal cohort in a single medical center
por: David, Odeya, et al.
Publicado: (2022)

SUN-077 Do Low Sex Hormone Binding Globulin Levels in Newborns Predict Weight Gain in Infancy and Early Childhood?
por: Aydin, Banu Kucukemre, et al.
Publicado: (2020)

MON-093 Pleuropulmonary Blastoma and Multinodular Goiter in a 22 Yr Old Male with DICER1 Syndrome
por: Lhamu, Ugen, et al.
Publicado: (2020)

Case report: A de novo Non-sense SOX9 mutation (p.Q417*) located in transactivation domain is Responsible for Campomelic Dysplasia
por: Qiao, Xingxing, et al.
Publicado: (2023)

Dystonia, facial dysmorphism, intellectual disability and breast cancer associated with a chromosome 13q34 duplication and overexpression of TFDP1: case report
por: Moscovich, Mariana, et al.
Publicado: (2013)

OR22-06 Bone Outcomes Following Sleeve Gastrectomy in Adolescents and Young Adults with Obesity Versus Non-Surgical Controls
por: Misra, Madhusmita, et al.
Publicado: (2020)

OR22-04 Relationship of TSH Levels with the Components of Metabolic Syndrome in a Nationally Representative Population of Youth in the United States
por: Chen, Xinlei, et al.
Publicado: (2020)

OR22-07 Novel Variants in Protein Kinase a Signaling-Related Genes Identified in Obese Children with and Without NAFLD
por: Bloyd, Michelle, et al.
Publicado: (2020)

SUN-290 Responsiveness of Growth Hormone Therapy in a Patient with Complex Chromosome 4 q Interstitial Deletion
por: Haider, Anzar
Publicado: (2019)

Nonclassic Congenital Adrenal Hyperplasia
por: Witchel, Selma Feldman, et al.
Publicado: (2010)

SAT-098 The Impact of 17-OHP Cutoffs Determination in a Public Newborn Screening Program for Congenital Adrenal Hyperplasia in Southern Brazil: A Three Years’ Experience
por: Kopacek, Cristiane, et al.
Publicado: (2020)

Laryngeal web with 22q11.2 deletion syndrome
por: Abe, Yasuhiro, et al.
Publicado: (2022)

Interstitial duplication of 20q11.22q13.11: A case report and review of literature
por: Goetzinger, Logan, et al.
Publicado: (2021)

SAT-LB050 Congenital Adrenal Hyperplasia Newborn Screening Protocols Differ Widely in the US: A Survey by the Differences/Disorders of Sex Development Translational Research Network (DSD-TRN)
por: Speiser, Phyllis, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_qdm3pagqhbcg83788kutvb0f66