In:
Hormone Research in Paediatrics, S. Karger AG, Vol. 80, No. 2 ( 2013), p. 119-128
Abstract:
〈 b 〉 〈 i 〉 Background: 〈 /i 〉 〈 /b 〉 Individuals with 〈 i 〉 NR5A1 〈 /i 〉 mutations encoding steroidogenic factor-1 (SF1) develop a phenotypically broad range of disorders of sexual development (DSD). Based on a literature review, we noted that hypoplastic seminiferous tubules and the emergence of Leydig cells with vacuolar cytoplasms are seen predominantly in the majority of individuals with 〈 i 〉 NR5A1 〈 /i 〉 mutations. 〈 b 〉 〈 i 〉 Aim: 〈 /i 〉 〈 /b 〉 The aim of this study was to address whether the histopathological characteristics of the testis can be a biomarker for 46,XY individuals with 〈 i 〉 NR5A1 〈 /i 〉 mutations. 〈 b 〉 〈 i 〉 Design: 〈 /i 〉 〈 /b 〉 In order to ascertain whether or not the histological features were the characteristics of 〈 i 〉 NR5A1 〈 /i 〉 mutations, we screened the testicular histology of 242 patients with 46,XY DSD and then subsequently assessed 〈 i 〉 NR5A1 〈 /i 〉 mutations. 〈 b 〉 〈 i 〉 Result: 〈 /i 〉 〈 /b 〉 Of 242 patients with 46,XY DSD, 6 patients matched histological testicular features: a reduced number of thin seminiferous tubules and focal aggregations of Leydig cells that contained cytoplasmic lipid droplets. All 6 patients had 〈 i 〉 NR5A1 〈 /i 〉 mutations. These histological features were distinct from those of other DSD. Thus, this unique testicular histology is useful for identifying 〈 i 〉 NR5A1 〈 /i 〉 mutations in 46,XY patients with DSD before puberty.
Type of Medium:
Online Resource
ISSN:
1663-2818
,
1663-2826
Language:
English
Publisher:
S. Karger AG
Publication Date:
2013
detail.hit.zdb_id:
2540224-9
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