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Ovarian Dysgenesis with Balanced Autosomal Translocation, 12/2001
Autosomal translocations are rare in the patients with ovarian dysgenesis. An 18-year-old female who presented with primary amenorrhoea had hypergonadotropic... 
Amenorrhea, Chromosome, Gonadal dysgenesis, Hypergonadotropic hypogonadism
Journal
Journal of Clinical Investigation, ISSN 0021-9738, 11/2015, Volume 125, Issue 11, pp. 4295 - 4304
Journal Article
Archives of Disease in Childhood, ISSN 0003-9888, 10/2014, Volume 99, Issue 10, p. A279
Journal Article
Archives of Disease in Childhood, ISSN 0003-9888, 10/2014, Volume 99, Issue Suppl 2, pp. A279 - A280
IntroductionGonadal dysgenesis in females which would be presented with 46 XX is characterised by the presence of primary amenorrhea with or without normal... 
Gonadal dysgenesis | Puberty | Deafness | Phenotypes | Infertility | Amenorrhea | Endocrine therapy | Degeneration
Journal Article
PLoS ONE, ISSN 1932-6203, 05/2017, Volume 12, Issue 5, p. e0176720
Mutations in NR5A1 have been reported as a frequent cause of 46, XY disorders of sex development (DSD) associated to a broad phenotypic spectrum ranging from... 
GENE-MUTATIONS | HETEROZYGOUS MUTATION | ADRENAL INSUFFICIENCY | HOMOZYGOUS MUTATION | MULTIDISCIPLINARY SCIENCES | SEX DEVELOPMENT | 46,XY PATIENTS | STEROIDOGENIC FACTOR-I | OVARIAN INSUFFICIENCY | MISSENSE MUTATIONS | NUCLEAR RECEPTOR | Gonadal Dysgenesis - physiopathology | Follow-Up Studies | Gonadal Dysgenesis - genetics | Humans | Steroidogenic Factor 1 - genetics | Male | T-Box Domain Proteins - genetics | Phenotype | Gonadal Dysgenesis - therapy | Adolescent | Female | HeLa Cells | Mutation | Steroidogenic Factor 1 - metabolism | Child | Gonadal disorders | Development and progression | Genetic aspects | Chromosome abnormalities | Gene mutations | Health aspects | Neonates | Disorders | Infants | Gender | Males | Genetic screening | Case studies | Genotype & phenotype | Urinary bladder | Sex determination | Fertility | Surgery | Amenorrhea | Tubes | Genetics | Diagnosis | Deoxyribonucleic acid--DNA | Binding | Spleen | Evaluation | Genitalia | Abnormalities | Phenotypic variations | Vagina | Laparoscopy | Ovaries | Gene expression | Discrimination | Infertility | Mice | Colliculus | Adolescence | Animal models | Transcription | Variability | Genes | Diamonds | Bladder | Biosynthesis | Uterus | Modulation | Division | Mathematical models | Children | Adolescents | Urogenital system | Age | Puberty | Reproductive systems | Genetic disorders | Nucleotide sequence | Diabetes mellitus | Pituitary (anterior) | Histology | Childbirth & labor | Medicine | Testosterone | Adrenocorticotropic hormone | Reproductive system | Differentiation | Gonads | Tumors | Deoxyribonucleic acid | DNA
Journal Article
Andrologia, ISSN 0303-4569, 10/2019, Volume 51, Issue 9, pp. e13377 - n/a
The SRY gene is considered as the key player in the male sexual differentiation and developmental pathway. SRY gene mutations account for ~15% of 46,XY... 
gonadal dysgenesis | HMG domain | SRY | DNA-BINDING | PROTEIN | ANDROLOGY | DISORDERS | Gene mutations | Analysis | Genes | Genetic research | Amino acids | Genetic aspects | Glutamate | Glutamic acid | Sex differentiation | Karyotypes | Hydrophobicity | Amino acid substitution | Gonadal dysgenesis | Proteins | Missense mutation | Valine | Dimensional analysis | Point mutation | Mutation | Protein structure
Journal Article
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 4/2011, Volume 108, Issue 16, pp. 6543 - 6548
Journal Article