由于睾丸17-酮类固醇还原酶活性缺乏导致的无男子女性型乳房的家族性男性假两性畸形。 - Suppr

Suppr

超能文献

Familial male pseudohermaphroditism without gynecomastia due to deficient testicular 17-ketosteroid reductase activity.

作者信息

Givens J R, Wiser W L, Summitt R L, Kerber I J, Andersen R N, Pittaway D E, Fish S A

出版信息

N Engl J Med. 1974 Oct 31;291(18):938-44. doi: 10.1056/NEJM197410312911805.

DOI:10.1056/NEJM197410312911805

PMID:4278097

Abstract

摘要

相似文献

Familial male pseudohermaphroditism without gynecomastia due to deficient testicular 17-ketosteroid reductase activity.由于睾丸17-酮类固醇还原酶活性缺乏导致的无男子女性型乳房的家族性男性假两性畸形。

N Engl J Med. 1974 Oct 31;291(18):938-44. doi: 10.1056/NEJM197410312911805.

Male pseudohermaphroditism due to testicular 17-ketosteroid reductase deficiency.因睾丸17-酮类固醇还原酶缺乏所致的男性假两性畸形。

Horm Metab Res. 1976 Jul;8(4):307-10. doi: 10.1055/s-0028-1093642.

Familial incomplete male pseudohermaphroditism, type 2. Decreased dihydrotestosterone formation in pseudovaginal perineoscrotal hypospadias.2型家族性不完全性男性假两性畸形。假性阴道会阴阴囊型尿道下裂中双氢睾酮生成减少。

N Engl J Med. 1974 Oct 31;291(18):944-9. doi: 10.1056/NEJM197410312911806.

Testicular 17-ketosteroid reductase deficiency as a cause of male pseudohermaphroditism in 2 sibs.

Birth Defects Orig Artic Ser. 1975;11(4):87-9.

Male pseudohermaphroditism due to testicular 17 -hydroxysteroid dehydrogenase deficiency.

J Clin Endocrinol Metab. 1973 May;36(5):867-79. doi: 10.1210/jcem-36-5-867.

Children with male pseudohermaphroditism: endocrine and metabolic studies.男性假两性畸形患儿：内分泌与代谢研究

Birth Defects Orig Artic Ser. 1971 May;7(6):150-8.

Further in vivo studies in male pseudohermaphroditism with gynecomastia due to a testicular 17-ketosteroid reductase defect (compared to a case of testicular feminization).对因睾丸17-酮类固醇还原酶缺陷导致男性假两性畸形伴男性乳腺增生的进一步体内研究（与睾丸女性化病例相比）。

J Clin Endocrinol Metab. 1972 Mar;34(3):598-600. doi: 10.1210/jcem-34-3-598.

Male pseudohermaphroditism due to 5 alpha reductase deficiency associated with gynecomastia.

Rev Hosp Clin Fac Med Sao Paulo. 1987 Mar-Apr;42(2):66-8.

Male pseudohermaphroditism due to 5 alpha-reductase deficiency. Ultrastructure of the gonads.

Arch Pathol Lab Med. 1980 Jul;104(7):363-7.

Familial incomplete male pseudohermaphroditism, type 1. Evidence for androgen resistance and variable clinical manifestations in a family with the Reifenstein syndrome.1型家族性不完全性男性假两性畸形。Reifenstein综合征家族中雄激素抵抗及可变临床表现的证据。

N Engl J Med. 1974 May 16;290(20):1097-103. doi: 10.1056/NEJM197405162902001.

引用本文的文献

Endocrine findings in male pseudohermaphroditism.男性假两性畸形的内分泌学表现

Eur J Pediatr. 1993;152 Suppl 2:S58-61. doi: 10.1007/BF02125441.

XY females with enzyme deficiencies of steroid metabolism. A brief review.患有类固醇代谢酶缺乏症的XY女性。简要综述。

Hum Genet. 1980;53(3):291-5. doi: 10.1007/BF00287042.

Neutral 17beta-hydroxysteroid oxidoreductase deficiency in testes causing male pseudohermaphroditism in an infant.睾丸中17β-羟基类固醇氧化还原酶缺乏导致一名婴儿出现男性假两性畸形。

J Inherit Metab Dis. 1980;2(3):51-4. doi: 10.1007/BF01801718.

Male pseudohermaphroditism due to 5 alpha-reductase deficiency in a Swedish family.瑞典一个家族中因5α-还原酶缺乏导致的男性假两性畸形。

Eur J Pediatr. 1988 Jun;147(5):532-5. doi: 10.1007/BF00441984.

Prepubertal male pseudohermaphroditism due to 17-ketosteroid reductase deficiency: diagnostic value of a hCG test and lack of HLA association.

J Endocrinol Invest. 1988 Apr;11(4):319-22. doi: 10.1007/BF03350158.

Female phenotype in a male child due to 17-alpha-hydroxylase deficiency.17α-羟化酶缺乏导致男性儿童出现女性表型。

Arch Dis Child. 1976 Sep;51(9):721-3. doi: 10.1136/adc.51.9.721.

Male pseudohermaphroditism: genetics and clinical delineation.男性假两性畸形：遗传学与临床描述

Hum Genet. 1978 Oct 19;44(1):1-49. doi: 10.1007/BF00283573.

Male pseudohermaphroditism presumably due to target organ unresponsiveness to androgens. Deficient 5alpha-dihydrotestosterone binding in cultured skin fibroblasts.男性假两性畸形可能是由于靶器官对雄激素无反应。培养的皮肤成纤维细胞中5α-二氢睾酮结合不足。

J Clin Invest. 1976 Aug;58(2):345-50. doi: 10.1172/JCI108478.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验