about
Gonadoblastoma arising in undifferentiated gonadal tissue within dysgenetic gonadsNR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex developmentAn update on surgical and non-surgical treatments for vaginal hypoplasia.Identification of germ cells at risk for neoplastic transformation in gonadoblastoma: an immunohistochemical study for OCT3/4 and TSPY.Maturation delay of germ cells in fetuses with trisomy 21 results in increased risk for the development of testicular germ cell tumors.Tumor risk in disorders of sex development (DSD).New insights into type II germ cell tumor pathogenesis based on studies of patients with various forms of disorders of sex development (DSD).Stem cell factor as a novel diagnostic marker for early malignant germ cells.Gonadal tumours and DSD.Male gender identity in complete androgen insensitivity syndrome.Tumor risk in disorders of sex development.Gonadal malignancy in 13 consecutive collected patients with disorders of sex development (DSD) from Semarang (Indonesia).Cardiovascular pathology in males and females with 45,X/46,XY mosaicism.Androgen receptor function links human sexual dimorphism to DNA methylationA multi-exon deletion within WWOX is associated with a 46,XY disorder of sex developmentDo surgical interventions influence psychosexual and cosmetic outcomes in women with disorders of sex development?A Recurrent Germline Mutation in the 5'UTR of the Androgen Receptor Causes Complete Androgen Insensitivity by Activating Aberrant uORF Translation.Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.Germ cell tumors in the intersex gonad: old paths, new directions, moving frontiers.Consecutive lynestrenol and cross-sex hormone treatment in biological female adolescents with gender dysphoria: a retrospective analysis.Cognitive, Emotional, and Psychosocial Functioning of Girls Treated with Pharmacological Puberty Blockage for Idiopathic Central Precocious PubertyThe Long-Term Outcome of Boys With Partial Androgen Insensitivity Syndrome and a Mutation in the Androgen Receptor GeneIdentification of an AR Mutation-Negative Class of Androgen Insensitivity by Determining Endogenous AR Activity.Disorders of sex development: update on the genetic background, terminology and risk for the development of germ cell tumors.Novel associations in disorders of sex development: findings from the I-DSD Registry.Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadismGonadal development and tumor formation at the crossroads of male and female sex determination.Tumor risk and clinical follow-up in patients with disorders of sex development.Sexual quality of life after hormonal and surgical treatment, including phalloplasty, in men with micropenis: a review.Germ cell cancer risk in DSD patients.Gonadal maldevelopment as risk factor for germ cell cancer: towards a clinical decision model.Calcium and bone homeostasis in heterozygous carriers of CYP24A1 mutations: A cross-sectional study.Update on the Pathophysiology and Risk Factors for the Development of Malignant Testicular Germ Cell Tumors in Complete Androgen Insensitivity Syndrome.Consecutive Cyproterone Acetate and Estradiol Treatment in Late-Pubertal Transgender Female Adolescents.Clinical presentation and outcome of children with central diabetes insipidus associated with a self-limited or transient pituitary stalk thickening, diagnosed as infundibuloneurohypophysitis.Birth Weight in Different Etiologies of Disorders of Sex Development.The biology of germ cell tumors in disorders of sex development.Gonadal dysgenesis in disorders of sex development: Diagnosis and surgical management.Non-coding variation in disorders of sex development.SF1 and spleen development: new heterozygous mutation, literature review and consequences for NR5A1-mutated patient's management.
P50
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P50
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Martine Cools
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P1053
J-4580-2012
P106
P21
P31
P3829
P496
0000-0002-9552-4899