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New understandings of the genetic basis of isolated diopathic central hypogonadism

Asian Journal of Andrology 2012年第1期14卷 49-56,175页

作者： Marco Bonomi Domenico Vladimiro Libri Fabiana Guizzardi Elena Guarducci Elisabetta Maiolo Elisa Pignatti Roberta Asci Luca Persani Division of Endocrinology and Metabolism Istituto Auxologico Italiano IRCCS 20149 Milan Italy Lab of Endocrine and Metabolic Research Istituto Auxologico Italiano I RCCS 20149 Milan Italy Department of Medical Sciences University of Milan 20122 Milan Italy Department of Clinical Pathophysiology Unit of Andrology University of Florence 50134 Florence Italy Lab of Human and Medical Genetics Ospedale Galliera 16128 Geneva Italy Department of Medicine Endocrinology Metabolism and Geriatrics University of Medena and Reggio Emilia 41126 Modena Italy CEINGE University Federice II Naples and Dept. of Clinical and ExperimentalMedicine Second University of Naples 80131 Naples Italy

Idiopathic hypogonadotropic hypogonadism is a rare disease that is characterized by delayed/absent puberty and/or infertility due to an insufficient stimulation of an otherwise normal pituitary-gonadal axis by gonadotrophin-releasing hormone （GnRH） action. Because reduced or normal luteinizing hormone （LH）/follicle-stimulating hormone （FSH） levels may be observed in the affected patients, the term idiopathic central hypogonadism （ICH） appears to be more appropriate. This disease should be distinguished from central hypogonadism that is combined with other pituitary deficiencies. Isolated ICH has a complex pathogenesis and ~s fivefold more prevalent in males. ICH frequently appears in a sporadic form, but several familial cases have also been reported. This finding, in conjunction with the description of numerous pathogenetic gene variants and the generation of several knockout models, supports the existence of a strong genetic component. ICH may be associated with several morphogenetic abnormalities, which include osmic defects that, with ICH, constitute the cardinal manifestations of Kallmann syndrome （KS）. KS accounts for approximately 40% of the total ICH cases and has been generally considered to be a distinct subgroup. However, the description of several pedigrees, which include relatives who are affected either with isolated osmic defects, KS, or normo-osmic ICH （nlCH）, justifies the emerging idea that ICH is a complex genetic disease that is characterized by variable expressivity and penetrance. In this context, either multiple gene variants or environmental factors and epigenetic modifications may contribute to the variable disease manifestations. We review the genetic mechanisms that are presently known to be involved in ICH pathogenesis and provide a clinical overview of the 227 cases that have been collected by the collaborating centres of the Italian ICH Network.

关键词： central hypogonadism congenital hypogonadism GnRH hypogonadotropic hypogonadism hypothalamus-pituitary-gonadal axis Kallmann syndrome male infertility

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Cloning,Sequencing and Analysis of Melatonin Receptor Subtype MT1 in ypothalamus-pituitary-gonadal axis and Pineal of Female Bactrian Camel

Cloning,Sequencing and Analysis of Melatonin Receptor Subtyp...

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首届（2012）中国骆驼大会暨中国畜牧业协会骆驼分会成立大会

作者： HU Jun-jie Zhang Yong WANG Jun-ying ZHAO Xing-xu Zhang Hai-rong College of Veterinary Medicine Gansu Agricultural University China Agriculture Vet.Bio.Science and Technology CO. LTD Lanzhou Department ofAgriculture Dezhou University

It is well known that melatonin is a coordinating signal for mammalian *** order to confirm the presence of melatonin receptors in hypothalamus-pituitary-gonadal axis and pineal of female Bactrian camel,we used a reverse transcriptase-polymerase chain reaction(RT-PCR) procedure to examine receptor MT1 *** length of MT1 gene was 452 ***-PCR assaying revealed the presence of the mt1(Mel1a) melatonin receptor subtype in reproduction axis and pineal which were obtained from the slaughterhouse in the Ningxia Autonomous Region,*** has been confirmed a high identity(above 85%)with melatonin receptor MT1 of other mammal known in *** with other tissue’s sequences,one base substitution changed the 108th TTC codon(encoding Phenylalanine) to TAC(Tyrosine) on *** there are base substitutions in pineal’s gene, encoded amino acid are coincident with pituitary and *** current results,the expression of MT1 receptor mRNA in brain and ovary,suggest that melatonin regulate reproduction function through not only neuroendocrine but also directly acting on the ovary in Bactrian camel

关键词： clone sequence MT1 hypothalamus-pituitary-gonadal axis Bactrian camel

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