Results 111 to 120 of about 9,699 (146)
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Recognizing rare disorders: aromatase deficiency
Nature Clinical Practice Endocrinology & Metabolism, 2007Aromatase deficiency is rare in humans. Affected individuals cannot synthesize endogenous estrogens. Aromatase is the enzyme that catalyzes conversion of androgens into estrogens, and if aromatase is nonfunctional because of an inactivating mutation, estrogen synthesis cannot occur.
Jones MEE +5 more
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Aromatase Deficiency in Fetal Virilization
Journal of Pediatric Urology, 2010Purpose Aromatase Deficiency is a rare cause of fetal virilization. We describe a rare case of aromatase deficiency responsible for virilization of an infant girl. Material and Methods Retrospective record review. Results An XX 3-year-old girl was referred to our department because of virilised genitalia.
Katharina Stalberg +3 more
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Aromatase deficiency in a male patient - Case report and review of the literature
Bone, 2016Aromatase, or CYP19A1, is a type II cytochrome CYP450 enzyme that catalyzes the conversion of C19 androgens to C18 estrogens. Its crucial role in both female and male physiology has been deduced from human and animal studies using aromatase inhibitors, genetically altered mice, and patients with aromatase deficiency.
Nima Karamooz, Stephen R Hammes
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Aromatase activity of steroid sulphatase-deficient placentae
Journal of Steroid Biochemistry, 1983Aromatase activity was measured in homogenates from steroid sulphatase deficient and steroid sulphatase positive placentae. The activity of the aromatase complex was determined from the rate of formation of [14C] oestrone plus [14C] oestradiol when [14C] testosterone was incubated with a rate-limiting quantity of homogenate.
A P, Slavakis, R E, Oakey
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Sex- and Age-Related Response to Aromatase Deficiency in Bone
Biochemical and Biophysical Research Communications, 2001Deficiency of sex steroids causes osteoporosis, but the relationship between estrogen and androgen is not clear because androgen is converted into estrogen by aromatase. In this study, we characterized bone metabolism in the aromatase-deficient (ArKO) mouse.
Chisato Miyaura +2 more
exaly +3 more sources
Of mice and men: the evolving phenotype of aromatase deficiency
Trends in Endocrinology & Metabolism, 2006We are rapidly becoming aware of the importance of estrogen in maintaining virtually all facets of male health. In order for estrogens to be synthesized endogenously, the enzyme responsible for their synthesis from androgens, aromatase, must be functional. The seven known men in whom aromatase is nonfunctional all have a mutation in either exon V or IX
Margaret E E, Jones +3 more
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Aromatase Deficiency and Its Consequences
2011New developments have challenged long-held concepts of the role of estrogen in the human male and prenatally in the conceptus, have uncovered widespread effects of estrogen in diverse tissues in the male and female, and have emphasized the role of extraglandular estrogen synthesis and paracrine and intracrine actions.
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Accelerated Pubertal Tempo in a 46,XY Aromatase-Deficient Patient
Hormone Research in Paediatrics, 2018<b><i>Background:</i></b> Aromatase deficiency is a rare autosomal recessive disorder. 46,XY-affected patients often remain undiagnosed until late puberty. Only 2 pediatric cases have been reported. Data on pubertal development in affected males are scarce.
Mariana Costanzo +12 more
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2013
Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men.
CARANI, Cesare, ROCHIRA, Vincenzo
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Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men.
CARANI, Cesare, ROCHIRA, Vincenzo
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Genetic analysis of human placental aromatase deficiency
The Journal of Steroid Biochemistry and Molecular Biology, 1993Placental aromatase deficiency, which was characterized by maternal and fetal virilization and by a low level of estrogen excretion into urine during pregnancy, was studied by biochemical and molecular genetical techniques. Among enzymes participating in the electron transport system of the patient's placental microsomes, only aromatase activity was ...
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