Steroidogenic factor-1 (SF-1, Ad4BP, NR5A1) and disorders of testis development.
Steroidogenic factor-1 (SF-1, Ad4BP, NR5A1) and disorders of testis development.
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DOI：
10.1159/000152036
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发表时间：
2008
期刊：
影响因子：
--
通讯作者：
Achermann JC
中科院分区：
文献类型：
--
作者：
Lin L;Achermann JC
类固醇生成因子-1（SF-1）（Ad 4 BP，NR 5A 1）是一种核受体，调节肾上腺和生殖发育和功能的许多方面。因此，XY小鼠中编码Sf-1的基因（Nr 5a 1）的缺失导致肾上腺发育受损、具有苗勒管结构的睾丸完全发育不全和雌性外生殖器。在人类中识别NR 5A 1变化的最初努力集中在46，XY合并肾上腺性腺功能衰竭和苗勒管结构的个体上。虽然这种临床特征的组合是罕见的，但在过去十年中已经描述了2例携带NR 5A 1突变的患者。然而，最近发现NR 5A 1杂合性功能丧失突变在患有46，XY性发育障碍（DSD）但肾上腺功能明显正常的儿童和成人中相对频繁。与这些变化相关的表型谱范围从具有苗勒管结构的完全睾丸发育不全，到轻度阴蒂肥大或生殖器模糊的个体，到严重的阴茎阴囊尿道下裂或甚至尿道闭锁。此外，NR 5A 1的非同义多态性可能与人群中的小阴茎或隐睾有关。总之，这些报告表明，SF-1功能的可变损失可能与人类广泛的生殖表型相关。
Steroidogenic factor-1 (SF-1) (Ad4BP, NR5A1) is a nuclear receptor that regulates many aspects of adrenal and reproductive development and function. Consequently, deletion of the gene (Nr5a1) encoding Sf-1 in XY mice results in impaired adrenal development, complete testicular dysgenesis with Müllerian structures, and female external genitalia. Initial efforts to identify NR5A1 changes in humans focused on 46,XY individuals with combined adrenogonadal failure and Müllerian structures. Although this combination of clinical features is rare, 2 such patients harboring NR5A1 mutations have been described within the past decade. More recently, however, it has emerged that heterozygous loss of function mutations in NR5A1 can be found relatively frequently in children and adults with 46,XY disorders of sex development (DSD) but with apparently normal adrenal function. The phenotypic spectrum associated with these changes ranges from complete testicular dysgenesis with Müllerian structures, through individuals with mild clitoromegaly or genital ambiguity, to severe penoscrotal hypospadias or even anorchia. Furthermore, a non-synonymous polymorphism in NR5A1 may be associated with micropenis or undescended testes within the population. Taken together, these reports suggest that variable loss of SF-1 function can be associated with a wide range of reproductive phenotypes in humans.
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46例患有严重不给源性的XY患者，但没有肾上腺功能不全。
影响因子：
3.9
作者：
Koehler, Birgit;Lin, Lin;Ferraz-de-souza, Bruno;Wieacker, Peter;Heidemann, Peter;Schroeder, Vanessa;Biebermann, Heike;Schnabel, Dirk;Grueters, Annette;Achermann, John C.
通讯作者：
Achermann, John C.
影响因子：
5.3
作者：
Kurrasch, Deborah M.;Cheung, Clement C.;Ingraham, Holly A.
通讯作者：
Ingraham, Holly A.
影响因子：
5.8
作者：
Correa, RV;Domenice, S;Mendonca, BB
通讯作者：
Mendonca, BB
DOI：
10.1016/j.bbrc.2003.10.096
发表时间：
2003-11-28
影响因子：
3.1
作者：
Fan, WQ;Yanase, T;Nawata, H
通讯作者：
Nawata, H
影响因子：
5.8
作者：
Hasegawa, T;Fukami, M;Ogata, T
通讯作者：
Ogata, T