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Aromatase deficiency in men: a clinical perspective [PDF]
Nature Reviews Endocrinology, 2009 Human aromatase deficiency is a very rare syndrome characterized by congenital estrogen deprivation that is caused by loss-of-function mutations in CYP19A1, which encodes aromatase. Here, we review the presentation, diagnosis and treatment of aromatase deficiency in men to provide useful advice for clinical management of the condition. At presentation,
Vincenzo Rochira +2 more
exaly +4 more sources
, 2019 Fil: Saraco, Nora Isabel. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P.
Gabriela Guercio +2 more
exaly +3 more sources
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Human models of aromatase deficiency
Journal of Steroid Biochemistry and Molecular Biology, 2008Estrogens exert a wide range of biological effects in both sexes also on non-reproductive systems and organs. Human congenital estrogen deficiency, due to an inactivating mutation of the aromatase gene, leads to the lack of the estrogen synthesis, with gonadotropins and circulating testosterone ranging from normal to elevated.
Lucia Zirilli +2 more
exaly +4 more sources
Effect of Testosterone and Estradiol in a Man with Aromatase Deficiency
New England Journal of Medicine, 1997Recent reports of disruptive mutations of the genes for the estrogen receptor or for cytochrome P-450 aromatase1–6 have shed new light on the role of estrogen. In females the lack of estrogen due to aromatase deficiency leads to pseudohermaphroditism and progressive virilization at puberty, whereas in males pubertal development is normal. In members of
Cesare Carani +2 more
exaly +4 more sources
Aromatase deficiency in an Ontario Old Order Mennonite family
Journal of Pediatric Endocrinology and Metabolism, 2021Abstract Objectives Aromatase deficiency is a rare autosomal recessive disease that results in the absence of aromatase. In females it presents with ambiguous genitalia and lack of secondary sexual characteristics during puberty.
, Samantha Colaiacovo, Sumit Dave
exaly +3 more sources
Congenital aromatase deficiency – A virilizing masquerade!
Journal of Pediatric Endocrinology and Diabetes, 2022Congenital adrenal hyperplasia (CAH) is the most common cause of disorder of sex development in an XX individual. While 21-hydroxylase (CYP21A2) gene mutation is the most common subtype of CAH, aromatase deficiency due to mutations in the gene CYP19A1 is a rare subtype.
Abhishek J. Kulkarni +1 more
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A Case of Female Pseudohermaphroditism Caused by Aromatase Deficiency
Clinical Pediatric Endocrinology, 2004 Female pseudohermaphroditism is caused by several etiologies. Here we report a case of aromatase deficiency who showed ambiguous genitalia and maternal virilization during pregnancy. The mother had noticed her own virilization from 16 wk of gestation without androgen exposure and had low urinary estriol levels (5~10 μg/ml at 35 wk of gestation).
Keisuke Nagasaki +2 more
exaly +4 more sources
Bone phenotype of the aromatase deficient mouse
The Journal of Steroid Biochemistry and Molecular Biology, 2001Estrogens are important for normal bone growth and metabolism. The mechanisms are incompletely understood. Thus, we have undertaken characterization of the skeletal phenotype of aromatase (ArKO) deficient mice. No abnormalities have been noted in skeletal patterning in newborns.
O K, Oz +10 more
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