人类生长激素缺乏症：一种孤立的、隐性遗传缺陷。
Growth-hormone deficiency in man: an isolated, recessively inherited defect.
作者信息
Rimoin D L, Merimee T J, Mc Kusick V A
出版信息
Science. 1966 Jun 17;152(3729):1635-7. doi: 10.1126/science.152.3729.1635.
PMID:4287048
Abstract
A deficiency of human growth hormone not associated with other pituitary deficiencies was observed in midgets with sexual ateliosis, a form of dwarfism inherited as an autosomal recessive trait. Body proportions, sexual development, birth weight, and postpartum lactation are normal in this syndrome.
摘要
在患有性幼稚型的侏儒症患者中观察到人类生长激素缺乏，且不伴有其他垂体功能缺陷，性幼稚型是一种以常染色体隐性性状遗传的侏儒症形式。该综合征患者的身体比例、性发育、出生体重和产后泌乳均正常。
相似文献
1
Growth-hormone deficiency in man: an isolated, recessively inherited defect.人类生长激素缺乏症：一种孤立的、隐性遗传缺陷。
Science. 1966 Jun 17;152(3729):1635-7. doi: 10.1126/science.152.3729.1635.
2
Sexual ateliotic dwarfism: a recessively inherited isolated deficiency of growth hormone.性发育不全性侏儒症：一种隐性遗传的单纯生长激素缺乏症。
Trans Assoc Am Physicians. 1966;79:297-311.
3
Isolated deficiencies of anterior pituitary hormones. Symptoms and diagnosis.垂体前叶激素孤立性缺乏症。症状与诊断。
JAMA. 1966 Sep 19;197(12):1006-16.
4
Hormone synthesis and release from human fetal adenohypophyses in vitro.人胎儿腺垂体激素的体外合成与释放
J Clin Endocrinol Metab. 1974 Nov;39(5):891-905. doi: 10.1210/jcem-39-5-891.
5
Postpartum amenorrhea-galactorrhea of hypothyroidism.
Am J Obstet Gynecol. 1969 Nov 1;105(5):766-73. doi: 10.1016/0002-9378(69)90012-x.
6
Isolated growth hormone deficiency and related disorders.孤立性生长激素缺乏症及相关疾病。
Annu Rev Med. 1974;25:137-42. doi: 10.1146/annurev.me.25.020174.001033.
7
Idiopathic sexual precocity in a boy with growth hormone, prolactin and thyrotropin deficiencies.
J Clin Endocrinol Metab. 1974 Aug;39(2):356-63. doi: 10.1210/jcem-39-2-356.
8
An integrated direct functional test of the adenohypophysis.腺垂体的综合直接功能试验。
Am J Obstet Gynecol. 1974 Jun 1;119(3):358-68. doi: 10.1016/0002-9378(74)90295-6.
9
Typical cases of isolated growth hormone deficiency with autosomal recessive inheritance.常染色体隐性遗传的孤立性生长激素缺乏典型病例。
Acta Endocrinol (Copenh). 1970 Apr;63(4):618-24. doi: 10.1530/acta.0.0630618.
10
Clomiphene as a test of pituitary function.克罗米芬作为垂体功能的一项测试。
Lancet. 1971 Jul 24;2(7717):190-1. doi: 10.1016/s0140-6736(71)90899-3.
引用本文的文献
1
David L. Rimoin.大卫·L·里莫因
Am J Hum Genet. 2012 Sep 7;91(3):403-7. doi: 10.1016/j.ajhg.2012.08.001.
2
Recessively inherited growth hormone deficiency in a family from Iraq.来自伊拉克的一个家族中的隐性遗传生长激素缺乏症。
J Med Genet. 1980 Aug;17(4):288-90. doi: 10.1136/jmg.17.4.288.
3
Relationship between growth hormone and muscular work in determining muscle size.生长激素与肌肉活动在决定肌肉大小方面的关系。
J Physiol. 1969 Feb;200(3):655-66. doi: 10.1113/jphysiol.1969.sp008714.
4
Hereditary pituitary dwarfism with spontaneous puberty.伴有自发性青春期的遗传性垂体性侏儒症。
Arch Dis Child. 1968 Feb;43(227):47-52. doi: 10.1136/adc.43.227.47.
5
The Gordon Wilson lecture: growth hormone--1966.戈登·威尔逊讲座：生长激素——1966年
Trans Am Clin Climatol Assoc. 1967;78:94-106.
6
Short stature and its treatment.身材矮小及其治疗。
Br Med J. 1972 May 27;2(5812):519-22. doi: 10.1136/bmj.2.5812.519.
7
Changing concepts on the control of growth hormone secretion in man.关于人类生长激素分泌调控的观念转变
Calif Med. 1971 Aug;115(2):38-46.
8
Genetic disease.遗传病
Can Med Assoc J. 1968 Feb 24;98(8):414-6.
9
Isolated growth hormone deficiency. Two families with autosomal dominant inheritance.孤立性生长激素缺乏症。两个具有常染色体显性遗传的家族。
Arch Dis Child. 1974 Jan;49(1):55-9. doi: 10.1136/adc.49.1.55.
10
[Familial panhypopituitarism].
Klin Wochenschr. 1991 Oct 2;69(15):725-30. doi: 10.1007/BF01649443.
Zotero 插件