Estrogen: consequences and implications of human mutations in synthesis and action.

@article{Grumbach1999EstrogenCA,
  title={Estrogen: consequences and implications of human mutations in synthesis and action.},
  author={Melvin M. Grumbach and Richard J. Auchus},
  journal={The Journal of clinical endocrinology and metabolism},
  year={1999},
  volume={84 12},
  pages={
          4677-94
        }
}
  • M. Grumbach, R. Auchus
  • Published 1 December 1999
  • Biology, Medicine
  • The Journal of clinical endocrinology and metabolism
Recent developments have advanced our knowledge of the role of estrogen in the male. Studies of the mutations in CYP19, the gene encoding aromatase, in six females and two males and a mutant estrogen receptor alpha in a man are described. These observations provide illuminating new insights into the critical role of estrogen in the male (as well as female) in the pubertal growth spurt and skeletal maturation, and in the importance of estrogen sufficiency in the accrual and maintenance of bone… 
Mutations in the Synthesis and Action of Estrogen: The Critical Role in the Male of Estrogen on Pubertal Growth, Skeletal Maturation, and Bone Mass
  • M. Grumbach
  • Biology
    Annals of the New York Academy of Sciences
  • 2004
TLDR
The crucial role of estradiol in the human male on the pubertal growth spurt, skeletal maturation and the cessation of linear growth, and the accrual of bone mass is focused on.
Estrogen, Bone, Growth and Sex: A Sea Change in Conventional Wisdom
  • M. Grumbach
  • Biology, Medicine
    Journal of pediatric endocrinology & metabolism : JPEM
  • 2000
TLDR
Establishing a role for estrogen does not exclude a direct action of testosterone on bone in the human male (especially on cortical bone), but this action is less characterized than thought in the past and is relatively minor in comparison with the major effect of estrogen in the male.
Human models of aromatase deficiency
The Endocrine Role of Estrogens on Human Male Skeleton
TLDR
Estrogen determines the acceleration of bone elongation at puberty, epiphyseal closure, harmonic skeletal proportions, the achievement of peak bone mass, and the maintenance of bone mass via the modulation of bone formation and resorption in men.
Aromatase activity and bone homeostasis in men.
TLDR
Confirmatory evidence comes from recent interventional studies in adult men using aromatase inhibition, which confirmed that estrogens are critically important to the male skeleton by helping to control rates of bone remodeling.
The role of estrogens in men and androgens in women.
Estrogen and spermatogenesis.
Although it has been known for many years that estrogen administration has deleterious effects on male fertility, data from transgenic mice deficient in estrogen receptors or aromatase point to an
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References

SHOWING 1-10 OF 239 REFERENCES
Effect of testosterone and estradiol in a man with aromatase deficiency.
TLDR
The responses to androgen and estrogen in a man with a novel, homozygous inactivating mutation of cytochrome P-450 aromatase suggest a crucial role of estrogen in skeletal maturation.
Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens.
TLDR
A novel mutation in the CYP19 gene in a sister and brother exhibited the cardinal features of the aromatase deficiency syndrome as recently defined and was reported on.
Androgen effects on bone metabolism: recent progress and controversies.
TLDR
This review summarizes the recent progress made in knowledge of androgen receptor action, local androgen metabolism in bone, and direct and indirect effects of gonadal and adrenal androgens as well as androgens receptor antagonists on bone cells.
Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man.
TLDR
Disruption of the estrogen receptor in humans need not be lethal and is important for bone maturation and mineralization in men as well as women.
The Roles of Oestrogen in the Male
  • R. Sharpe
  • Biology, Medicine
    Trends in Endocrinology & Metabolism
  • 1998
Impairment of spermatogenesis in mice lacking a functional aromatase (cyp 19) gene.
TLDR
It is indicated that local expression of aromatase is essential for spermatogenesis and provide evidence for a direct action of estrogen on male germ cell development and thus fertility.
Growth hormones and sex steroid interactions at puberty.
  • P. Clark, A. Rogol
  • Biology, Medicine
    Endocrinology and metabolism clinics of North America
  • 1996
Skeletal effects of estrogen.
TLDR
Estrogen appears to be the most important sex steroid in preventing osteoporosis in women and is the subject of this review.
Androgens and their role in skeletal homeostasis.
TLDR
Both animal experiments and recent human data suggest that at least part of the complex skeletal effects of androgen may depend on the aromatization of androgens into estrogens.
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