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博耶森-福斯曼- Lehmann综合征中的原发性性腺功能减退。

Primary hypogonadism in the Borjeson-Forssman-Lehmann syndrome.

作者信息

Weber F T, Frias J L, Julius R L, Felman A H

出版信息

J Med Genet. 1978 Feb;15(1):63-6. doi: 10.1136/jmg.15.1.63.

DOI:10.1136/jmg.15.1.63
PMID:564968
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1012825/
Abstract

A 28-year-old man with mental retardation and multiple congenital malformations was found to have the classical features of Borjeson-Forssman-Lehmann syndrome. Endocrine evaluations showed primary hypogonadism as the underlying endocrine abnormality rather than hypopituitarism as suggested in earlier reports.

摘要

一名患有智力障碍和多种先天性畸形的28岁男性被发现具有博耶森-福斯曼-莱曼综合征的典型特征。内分泌评估显示原发性性腺功能减退是潜在的内分泌异常,而非如早期报告所提示的垂体功能减退。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4f8f/1012825/a05fd8989cf2/jmedgene00296-0071-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4f8f/1012825/258a74afe657/jmedgene00296-0070-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4f8f/1012825/7344fefb8f97/jmedgene00296-0070-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4f8f/1012825/a05fd8989cf2/jmedgene00296-0071-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4f8f/1012825/258a74afe657/jmedgene00296-0070-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4f8f/1012825/7344fefb8f97/jmedgene00296-0070-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4f8f/1012825/a05fd8989cf2/jmedgene00296-0071-a.jpg

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本文引用的文献

1
THE BOERJESON-FORSSMAN-LEHMANN SYNDROME.布尔热松-福斯曼-莱曼综合征
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An X-linked, recessively inherited syndrome characterized by grave mental deficiency, epilepsy, and endocrine disorder.一种X连锁隐性遗传综合征,其特征为严重智力缺陷、癫痫和内分泌紊乱。
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Metacarpophalangeal pattern profiles in the evaluation of skeletal malformations.掌指骨形态轮廓在骨骼畸形评估中的应用
Radiology. 1972 Jul;104(1):1-11. doi: 10.1148/104.1.1.
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The response of pituitary gonadotropes to a constant infusion of luteinizing hormone-releasing hormone (LHRH) in normal prepubertal and pubertal children and in children with abnormalities of sexual development.正常青春期前和青春期儿童以及性发育异常儿童的垂体促性腺细胞对持续输注促黄体生成素释放激素(LHRH)的反应。
J Clin Endocrinol Metab. 1976 Aug;43(2):400-11. doi: 10.1210/jcem-43-2-400.