Aims. 17--Hydroxysteroid dehydrogenase type 3 (17HSD-3) is expressed exclusively in the testes where it converts 4 androstenedione (4) to testosterone (T). Here, we report a patient with a rare mutation at a critical site in HSD17B3 gene leading to deficiency of 17 HSD-3 enzyme....
Individuals with 5α-reductase-2 deficiency (5α-RD-2) and 17β-hydroxysteroid dehydrogenase-3 deficiency (17β-HSD-3) are often raised as girls. Over the past number of years, this policy has been challenged because many individuals with these conditions develop a male gender identity and ma...
出院诊断:1.17-羟类固醇脱氢酶3缺乏症2.假两性畸形,目前患儿1岁余,已在外院予手术治疗,效果尚可。 2讨论 17-羟类固醇脱氢酶3缺乏症只要是指睾丸组织表达的一种症状,并与辅酶 NADPH共同参与 T的生物合成[1]。所以,如果编码17β-HSD3的基因突变不但会造成17β-HSD3的结构发生变化,进而使酶活性部分或全部丧失,...
Children with 17β-hydroxysteroid-dehydrogenase-3 (17β-HSD-3) deficiency have a defect of testosterone biosynthesis with subsequent diminished virilization in XY individuals. Some are raised as girls and some as boys. There were two purposes of this case report: First, it analyzed the process ...
目的:观察中老年部分雄激素缺乏综合征(partial androgen deficiency of aging male,PADAM)雄性大鼠睾丸细胞色素P 450侧链裂解酶(cytochrome P 450 side chain cleavag... 任毅,杨晓光,李学智,... - 《针刺研究》 被引量: 3发表: 2015年 17β-羟类固醇脱氢酶2及孕激素受体B亚型在子宫内膜息肉中的表达及意义 子...
本病需要与原发性醛固酮增多症、单纯性腺发育不全和先天性卵巢发育不全(Turner综合征),P450-氧化还原酶缺乏症(PORD)以及17β-羟类固醇脱氢酶3型(1717β-HSD3)缺乏症等鉴别。原发性醛固酮增多症患者典型临床特征为高血压、低血钾、肌无力、高血钠、碱中...
and steroids. The protein has been implicated in the development of Alzheimer's disease, and mutations in the gene are the cause of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD). Several alternatively spliced transcript variants have been identified, but the full-length nature of ...
Similar to 3βHSD2 deficiency, treatment involves replacement of both adrenal and gonadal steroid deficiencies. View chapter Chapter Steroid biosynthesis Steroids in the Laboratory and Clinical Practice Book2023, Steroids in the Laboratory and Clinical Practice John William Honour Explore book 1.3.6.4.1...
CENTRAL PRECOCIOUS PUBERTY (CPP) IN TWO SISTERS WITH DECREASED ACTIVITY OF ADRENAL 3β-HYDROXYSTEROID DEHYDROGENASE (3βHSD) Peripheral precocious puberty has been described in girls with mild adrenal 3βHSD deficiency. We describe two sisters with CPP and reduced activity of adr... Hrshkovz - ...
( 11β- hydroxylase deficiency, 11β-OHD) ,17α 羟化酶 / 17, 20 裂解酶缺陷症(17α-hydroxylase / 17,20-lyase defi- ciency, 17OHD) ,P450 氧化还原酶缺乏症( P450 ox- idoreductase deficiency, PORD) , 3β-羟 基类固醇脱 氢酶缺陷症(3β-HSD) [10] ,这些类型的酶缺陷不同, 类固醇...