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Quoted phrase not found in phrase index: "Androgen insensitivity syndrome, mild"
Page 1
A clinician looks at androgen resistance.
Balducci R, Ghirri P, Brown TR, Bradford S, Boldrini A, Boscherini B, Sciarra F, Toscano V. Balducci R, et al. Steroids. 1996 Apr;61(4):205-11. doi: 10.1016/0039-128x(96)00015-3. Steroids. 1996. PMID: 8733002 Free article. Review.
Androgen resistance in genetic males occurs when gonadotropins and testosterone are normal, but the physiological androgen response in androgen target organs is absent or decreased. In androgen-dependent target tissues two main defects may be found: 1) …
Androgen resistance in genetic males occurs when gonadotropins and testosterone are normal, but the physiological androgen res …
A case of mild partial androgen insensitivity syndrome in a juvenile boy.
Wang F, Shao S, He W, Hu S. Wang F, et al. J Int Med Res. 2024 Mar;52(3):3000605241232520. doi: 10.1177/03000605241232520. J Int Med Res. 2024. PMID: 38530023 Free PMC article.
Androgen insensitivity syndrome (AIS) is a rare disorder with X-linked recessive inheritance in 46 XY patients. ...Prediction analysis suggested this to be a disease-causing variant. ...
Androgen insensitivity syndrome (AIS) is a rare disorder with X-linked recessive inheritance in 46 XY patients. ...P …
Phenotypic variation and detection of carrier status in the partial androgen insensitivity syndrome.
Batch JA, Davies HR, Evans BA, Hughes IA, Patterson MN. Batch JA, et al. Arch Dis Child. 1993 Apr;68(4):453-7. doi: 10.1136/adc.68.4.453. Arch Dis Child. 1993. PMID: 8099270 Free PMC article.
The partial androgen insensitivity syndrome occurs in 46,XY subjects with phenotypes ranging from perineoscrotal hypospadias with cryptorchidism and micropenis (mild undervirilisation) to clitoromegaly and partial labial fusion (marked undervirilisation). ... …
The partial androgen insensitivity syndrome occurs in 46,XY subjects with phenotypes ranging from perineoscrotal hyposp …
Gonadal tumour risk in 292 phenotypic female patients with disorders of sex development containing Y chromosome or Y-derived sequence.
Huang H, Wang C, Tian Q. Huang H, et al. Clin Endocrinol (Oxf). 2017 Apr;86(4):621-627. doi: 10.1111/cen.13255. Epub 2016 Nov 10. Clin Endocrinol (Oxf). 2017. PMID: 27862157
The overall GCTs risk was 15.41% and 46, XY pure gonadal dysgenesis (46, XY PGD) carried the highest risk up to 23.33%, followed by complete androgen insensitivity syndrome (CAIS). The risk of mixed gonadal dysgenesis (GD) or 46, XY 17 alpha-hydroxylase/17, 2 …
The overall GCTs risk was 15.41% and 46, XY pure gonadal dysgenesis (46, XY PGD) carried the highest risk up to 23.33%, followed by complete …
Clinical and genetic findings in five female patients with haemophilia A: Identification of a novel missense mutation, p.Phe2127Ser.
Martín-Salces M, Venceslá A, Alvárez-Román MT, Rivas I, Fernandez I, Butta N, Baena M, Fuentes-Prior P, Tizzano EF, Jiménez-Yuste V. Martín-Salces M, et al. Thromb Haemost. 2010 Oct;104(4):718-23. doi: 10.1160/TH10-02-0085. Epub 2010 Jul 20. Thromb Haemost. 2010. PMID: 20664893
Three sisters born to consanguineous parents presented moderate bleeding due to a known mutation (p.Ser1791Pro) detected in a homozygous state. In the second family, two sisters with Morris syndrome (46,XY) and mild/moderate illness were hemizygous for a novel missense mut …
Three sisters born to consanguineous parents presented moderate bleeding due to a known mutation (p.Ser1791Pro) detected in a homozygous sta …