The molecular basis of human hypogonadotropic hypogonadism

被引:20
|
作者
Layman, LC [1 ]
机构
[1] Univ Chicago, Dept Obstet & Gynecol, Sect Reprod Endocrinol & Infertil, Chicago, IL 60637 USA
关键词
idiopathic hypogonadotropic hypogonadism; Kallmann syndrome; adrenal hypoplasia congenita; genetics; delayed puberty;
D O I
10.1006/mgme.1999.2912
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Patients with hypogonadotropic hypogonadism (HEI) present with delayed puberty, infertility, and low serum gonadotropins. The molecular basis for most cases of HH is unknown, but single gene mutations have been described for some hypothalamic and pituitary genes. Kallmann syndrome due to KAL gene mutations and adrenal hypoplasia congenita/HH caused by AHC gene mutations are both X-linked recessive disorders. Mutations in the gonadotropin releasing hormone receptor, leptin, and the leptin receptor cause autosomal recessive HH. In addition, isolated deficiencies of follicle stimulating hormone and luteinizing hormone in the corresponding specific beta-subunit genes and PROP1 gene mutations represent pituitary deficiency states, resulting in a phenotype of HEI. Despite these remarkable advances in our understanding of human HH, the cause of approximately 90% remains unknown. (C) 1999 Academic Press.
引用
收藏
页码:191 / 199
页数:9
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