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Research 30 of 1000+
- Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report
- Disorders of sex development (DSD) 46.XY due to type 2 5-α reductase deficiency in three siblings: Case report from a low-resource setting
- ODP398 A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic
- Clinical, Hormonal, Behavioral, and Genetic Characteristics of Androgen Insensitivity Syndrome in a Brazilian Cohort: Five Novel Mutations in the Androgen Receptor Gene
- SUN-069 A 14 Year Old Female with Primary Amenorrhea
- Index of Suspicion
- SAT-213 Late Diagnosis of Complete Androgen Insensitivity
- A Teenage Girl with Unexpected Pubertal Changes
- 46, XY 5-Alpha Reductase Deficiency in a 36-Year-Old Phenotypic Female Patient
- A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome
- A case report of a novel homozygote mutation causing severe Leydig cell hypoplasia: insights in the coexistence of nonsense mutation and polymorphism in the same LHCGR gene locus
- Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome
- 46, XY Disorder of Sexual Development with Ambiguous Female External Genitalia: A Case Report
- Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants
- Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development
- Occurrence of Klinefelter Syndrome Mosaic 45,X/46,XY/47,XXY/48,XXYY/48,XXXY and Primary Hyperparathyroidism
- Identification of a Rare Variant in the <i>SRD5A2</i> Gene in Siblings With 46,XY Disorders of Sexual Development
- Disorders of Sex Development
- An adolescent girl presenting with primary amenorrhea: A case report of complete androgen insensitivity syndrome
- Abordagens psicológicas e novas terapêuticas perante as escolhas do paciente portador da Síndrome de Morris
- Graham Little-Piccardi-Lassueur syndrome associated with androgen insensitivity syndrome (testicular feminization)
- Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome
- Recent Advances in Drug Design and Drug Discovery for Androgen- Dependent Diseases
- Human Adipose-derived Mesenchymal Stromal Cells Exhibit High HLA-DR Levels and Altered Cellular Characteristics under a Xeno-free and Serum-free Condition
- Genetic Defects of Female Sexual Differentiation
- Case Report: Disorder of Sexual Development in a Chinese Crested Dog With XX/XY Leukocyte Chimerism and Mixed Cell Testicular Tumors
- Endocrine abnormalities in ring chromosome 11: a case report and review of the literature
- E-Poster
- 5-Alpha-reductase deficiency in a Saudi "girl"
- Hair follicle-derived epithelial sheet has potential in vitiligo treatment