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Concomitant mutations in the P450 oxidoreductase and androgen receptor genes presenting with 46,XY disordered sex development and androgenization at adrenarche.Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.Autocrine androgen action is essential for Leydig cell maturation and function, and protects against late-onset Leydig cell apoptosis in both mice and men.Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiencyThe risk of neoplasm associated with dysgenetic testes in prepubertal and pubertal/adult patients.Participation of adults with disorders/differences of sex development (DSD) in the clinical study dsd-LIFE: design, methodology, recruitment, data quality and study population.High prevalence of primary ovarian insufficiency in girls and young women with Nijmegen breakage syndrome: evidence from a longitudinal study.Variability of sexual phenotype in 46,XX(SRY+) patients: the influence of spreading X inactivation versus position effects.[Precocious puberty due to hypothalamic hamartoma].X-linked alpha thalassaemia/mental retardation syndrome: a case with gonadal dysgenesis, caused by a novel mutation in ATRX gene.A psychosexual follow-up study of patients with mixed or partial gonadal dysgenesis.Treatment for 24 months with recombinant human GH has a beneficial effect on bone mineral density in young adults with childhood-onset GH deficiency.Biochemical diagnosis of Antley-Bixler syndrome by steroid analysisGrowth hormone-releasing hormone reverses secondary somatotroph unresponsiveness[Anti-Müllerian hormone (AMH) measurements in the assessment of testicular function in prepubertal boys and in sexual differentiation disorders][Estimation of the correlation of insulin resistance and selected adipocytokines in children with simple obesity--preliminary study]A Case of Two Sisters Suffering from 46,XY Gonadal Dysgenesis and Carrying a Mutation of a Novel Candidate Sex-Determining Gene STARD8 on the X ChromosomeThe risk of mental disorders in patients with disorders/differences of sex differentiation/development (DSD) and Y chromosome
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P50
description
researcher ORCID ID = 0000-0003-4928-9557
@en
wetenschapper
@nl
name
Maria Szarras-Czapnik
@ast
Maria Szarras-Czapnik
@en
Maria Szarras-Czapnik
@es
Maria Szarras-Czapnik
@fr
Maria Szarras-Czapnik
@nl
type
label
Maria Szarras-Czapnik
@ast
Maria Szarras-Czapnik
@en
Maria Szarras-Czapnik
@es
Maria Szarras-Czapnik
@fr
Maria Szarras-Czapnik
@nl
prefLabel
Maria Szarras-Czapnik
@ast
Maria Szarras-Czapnik
@en
Maria Szarras-Czapnik
@es
Maria Szarras-Czapnik
@fr
Maria Szarras-Czapnik
@nl
P106
P1153
6603103662
P21
P31
P496
0000-0003-4928-9557