期刊
SEMINARS IN REPRODUCTIVE MEDICINE
卷 18, 期 1, 页码 31-39出版社
THIEME MEDICAL PUBL INC
DOI: 10.1055/s-2000-13481
关键词
aromatase deficiency; estrogen resistance; mutation
资金
- EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT [R37HD038691] Funding Source: NIH RePORTER
- EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH &HUMAN DEVELOPMENT [R01HD038691] Funding Source: NIH RePORTER
- NATIONAL CANCER INSTITUTE [R29CA067167, R01CA067167] Funding Source: NIH RePORTER
- NCI NIH HHS [CA67167] Funding Source: Medline
- NICHD NIH HHS [HD 38691] Funding Source: Medline
Our knowledge of the physiologic roles of estrogen in women and men has been advanced by recent descriptions of mutations disrupting estrogen biosynthesis and action. Aromatase deficiency results from autosomal recessive inheritance of mutations in the CYP19 gene. It gives rise to ambiguous genitalia in 46,XX individuals. At puberty, affected girls have hypergonadotropic hypogonadism, fail to develop secondary sexual characteristics, and exhibit progressive virilization. The affected 46,XY individuals have normal male sexual differentiation and pubertal maturation. These men are extremely tall and have eunuchoid proportions with continued linear growth into adulthood, lack of epiphyseal closure, and osteoporosis due to estrogen deficiency. Although estrogen was shown to be essential for normal sperm production and function in mice, its role infertility is not clear in men. Thus far, one estrogen-resistant human, a man with a mutant estrogen receptor-alpha gene, has been described. His clinical presentation was similar to that of aromatase-deficient men.
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