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New insights into 5alpha-reductase type 2 deficiency based on a multi-centre study: regional distribution and genotype-phenotype profiling of SRD5A2 in 190 Chinese patients.
Gui B, Song Y, Su Z, Luo FH, Chen L, Wang X, Chen R, Yang Y, Wang J, Zhao X, Fan L, Liu X, Wang Y, Chen S, Gong C. Gui B, et al. J Med Genet. 2019 Oct;56(10):685-692. doi: 10.1136/jmedgenet-2018-105915. Epub 2019 Jun 11. J Med Genet. 2019. PMID: 31186340
BACKGROUND: The 5alpha-reductase type 2 (5alpha-RD2) deficiency caused by mutations in the steroid 5alpha-reductase 2 (SRD5A2) gene results in variable degrees of undervirilisation in patients with 46,XY disorders of sex development. ...However, …
BACKGROUND: The 5alpha-reductase type 2 (5alpha-RD2) deficiency caused by mutations in the steroid 5alpha-reductase 2 (SRD5A2) …
Primary amenorrhoea - cytogenetic study in 40 Indian women.
Banerjee B, Dutta A, Roy S, Halder A. Banerjee B, et al. J Obstet Gynaecol. 2024 Dec;44(1):2348085. doi: 10.1080/01443615.2024.2348085. Epub 2024 May 6. J Obstet Gynaecol. 2024. PMID: 38708796 Free article.
RESULT: Out of 40 patients, 29 were normal among which 46,XX was found in 70% cases (n = 28) and 46,XX,9qh + in 2.5% (n = 1). The remaining 11 showed different types of abnormalities. 45,X was found in 10% (n = 4), 46,X,i(X)(q10) in 2.5% (n = 1), 46,X,del(X)(p11. …
RESULT: Out of 40 patients, 29 were normal among which 46,XX was found in 70% cases (n = 28) and 46,XX,9qh + in 2.5% (n = 1). The rem …
Idiopathic male pseudohermaphroditism: variations in presentation and management.
Meau-Petit V, Marcou V, Trivin C, Lortat-Jacob S, McElreavey K, Brauner R. Meau-Petit V, et al. J Pediatr Endocrinol Metab. 2005 Jun;18(6):569-75. doi: 10.1515/jpem.2005.18.6.569. J Pediatr Endocrinol Metab. 2005. PMID: 16042324
Male pseudohermaphroditism (MPH) is the abnormal development of genitalia in an individual with a 46,XY chromosome complement and testicular tissue. The etiology of MPH is unknown in most cases, which are defined as idiopathic. ...The initial manifestations were sex …
Male pseudohermaphroditism (MPH) is the abnormal development of genitalia in an individual with a 46,XY chromosome complement …