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Quoted phrase not found in phrase index: "46,XY Disorder of Androgen Action"
Page 1
Gonadal malignancy risk and prophylactic gonadectomy in disorders of sexual development.
Abacı A, Çatlı G, Berberoğlu M. Abacı A, et al. J Pediatr Endocrinol Metab. 2015 Sep;28(9-10):1019-27. doi: 10.1515/jpem-2014-0522. J Pediatr Endocrinol Metab. 2015. PMID: 25879315 Review.
Germ cell tumor risk is lowest (<5%) in patients with defects in androgene action or synthesis (such as complete androgen insensitivity syndrome, 5alpha-reductase deficiency), whereas the highest risk (15%-60%) is observed in 46,XY gonadal dy …
Germ cell tumor risk is lowest (<5%) in patients with defects in androgene action or synthesis (such as complete androge …
Novel mutations of the SRD5A2 and AR genes in Thai patients with 46, XY disorders of sex development.
Ittiwut C, Pratuangdejkul J, Supornsilchai V, Muensri S, Hiranras Y, Sahakitrungruang T, Watcharasindhu S, Suphapeetiporn K, Shotelersuk V. Ittiwut C, et al. J Pediatr Endocrinol Metab. 2017 Jan 1;30(1):19-26. doi: 10.1515/jpem-2016-0048. J Pediatr Endocrinol Metab. 2017. PMID: 27849622 Free article.
BACKGROUND: Abnormalities of dihydrotestosterone conversion [5alpha-reductase deficiency: online Mendelian inheritance in man (OMIM) 607306] or actions of androgens [partial androgen insensitivity syndrome (PAIS): OMIM 312300] during the 8th-12th weeks of gestation …
BACKGROUND: Abnormalities of dihydrotestosterone conversion [5alpha-reductase deficiency: online Mendelian inheritance in man (OMIM) 607306] …
Disorders of sex development in children in KwaZulu-Natal Durban South Africa: 20-year experience in a tertiary centre.
Ganie Y, Aldous C, Balakrishna Y, Wiersma R. Ganie Y, et al. J Pediatr Endocrinol Metab. 2017 Jan 1;30(1):11-18. doi: 10.1515/jpem-2016-0152. J Pediatr Endocrinol Metab. 2017. PMID: 27754965 Free article.
The aetiological diagnosis based on the current classification [Lawson Wilkins Paediatric Endocrine Society (LWPES) and European Society for Paediatric Endocrinology (ESPE)] was sex chromosome DSD in 9.5% (n=33), 46 XX DSD in 33% (n=114) and 46 XY DSD in 57.5% (n=19 …
The aetiological diagnosis based on the current classification [Lawson Wilkins Paediatric Endocrine Society (LWPES) and European Society for …
Extreme androgen resistance in a kindred with a novel insertion/deletion mutation in exon 5 of the androgen receptor gene.
Vilchis F, Ramos L, Kofman-Alfaro S, Zenteno JC, Méndez JP, Chávez B. Vilchis F, et al. J Hum Genet. 2003;48(7):346-51. doi: 10.1007/s10038-003-0036-0. Epub 2003 Jun 7. J Hum Genet. 2003. PMID: 12908100
Androgen insensitivy syndrome (AIS) is the most frequent cause of male pseudohermaphroditism resulting from target-organ resistance to androgen action. ...In the present study, four 46,XY patients born in two generations from a kindred with a hi …
Androgen insensitivy syndrome (AIS) is the most frequent cause of male pseudohermaphroditism resulting from target-organ resistance t …
Male pseudohermaphroditism due to 17 beta-hydroxysteroid dehydrogenase 3 deficiency. Diagnosis, psychological evaluation, and management.
Mendonca BB, Inacio M, Arnhold IJ, Costa EM, Bloise W, Martin RM, Denes FT, Silva FA, Andersson S, Lindqvist A, Wilson JD. Mendonca BB, et al. Medicine (Baltimore). 2000 Sep;79(5):299-309. doi: 10.1097/00005792-200009000-00003. Medicine (Baltimore). 2000. PMID: 11039078 Free article.
Two additional males in the same families are believed to be affected on the basis of history obtained from family members. All of the 46,XY individuals in these families were registered at birth and raised as females (despite the presence of ambiguous genitalia in …
Two additional males in the same families are believed to be affected on the basis of history obtained from family members. All of the 46 …