Results 11 to 20 of about 9,699 (146)

A Novel Homozygous CYP19A1 Gene Mutation Causing Aromatase Deficiency. [PDF]

Cureus, 2022
Aromatase deficiency is a rare autosomal recessive disorder and its exact prevalence is not known. Aromatase enzyme catalyzes the conversion of androgens to estrogens in gonadal and extra-gonadal tissues. Deficiency of aromatase enzyme can lead to ambiguous genitalia in a female child and maternal virilization during pregnancy due to raised androgen ...
Hathi D, Goswami S, Sengupta N, Baidya A.   +3 more
europepmc   +4 more sources

Aromatase Deficiency, a Rare Syndrome: Case Report [PDF]

J Clin Res Pediatr Endocrinol, 2013
Aromatase deficiency (AD) is a rare autosomal recessive inheritance syndrome. Its worldwide incidence is unknown, and there are few case reports in the literature. Aromatase dysfunction develops due to CYP19A1 gene mutation and a decrease in estrogen synthesis.
Pignatti E, Simoni M, Rochira V.
europepmc   +4 more sources

Aromatase Deficiency due to a Novel Mutation in CYP19A1 Gene [PDF]

J Clin Res Pediatr Endocrinol, 2018
Aromatase deficiency is a rare autosomal recessive genetic disorder with an unknown incidence. Aromatase converts androgens into estrogen in the gonadal and extra-gonadal tissues. Aromatase deficiency causes ambiguous genitalia in the female fetus and maternal virilization (hirsutism, acne, cliteromegaly, deep voice) during pregnancy due to increased ...
Unal E, Yıldırım R, Taş FF, Demir V, Onay H, Haspolat YK.   +5 more
europepmc   +5 more sources

Determination and Disposition of the Aromatase Inhibitor Exemestane in CYP3A-Deficient Mice

Molecules
Exemestane, a steroidal aromatase inhibitor prescribed for post-menopausal women with estrogen receptor-positive breast cancer, is associated with debilitating musculoskeletal side effects and exhibits considerable interindividual variability in systemic
Hanieh Taheri, Eman Ahmed, Peng Hu, Alex Sparreboom, Shuiying Hu   +4 more
doaj   +3 more sources

Should Skeletal Maturation Be Manipulated for Extra Height Gain?

Frontiers in Endocrinology, 2021
Skeletal maturation can be delayed by reducing the exposure to estrogens, either by halting pubertal development through administering a GnRH analogue (GnRHa), or by blocking the conversion of androgens to estrogens through an aromatase inhibitor (AI ...
Jan M. Wit
doaj   +1 more source

Developmental vitamin D deficiency increases foetal exposure to testosterone

Molecular Autism, 2020
Background Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders which are more common in males. The ‘prenatal sex steroid’ hypothesis links excessive sex-steroid exposure during foetal life with the behavioural differences observed ...
Asad Amanat Ali, Xiaoying Cui, Renata Aparecida Nedel Pertile, Xiang Li, Gregory Medley, Suzanne Adele Alexander, Andrew J. O. Whitehouse, John Joseph McGrath, Darryl Walter Eyles   +8 more
doaj   +1 more source

Aromatase-Inhibitor-Induced Musculoskeletal Inflammation Is Observed Independent of Oophorectomy in a Novel Mouse Model

Pharmaceuticals, 2022
Aromatase Inhibitors (AIs) block estrogen production and improve survival in patients with hormone-receptor-positive breast cancer. However, half of patients develop aromatase-inhibitor-induced arthralgia (AIIA), which is characterized by inflammation of
Nicholas A. Young, Jeffrey Hampton, Juhi Sharma, Kyle Jablonski, Courtney DeVries, Anna Bratasz, Lai-Chu Wu, Maryam Lustberg, Raquel Reinbolt, Wael N. Jarjour   +9 more
doaj   +1 more source

Aromatase Deficiency Confers Paradoxical Postischemic Cardioprotection [PDF]

Endocrinology, 2011
The conventional view is that estrogen confers female cardioprotection. Estrogen synthesis depends on androgen availability, with aromatase regulating conversion of testosterone to estradiol. Extragonadal aromatase expression mediates estrogen production in some tissues, but a role for local steroid conversion has not yet been demonstrated in the heart.
Bell, James R., Mellor, Kimberley M., Wollermann, Amanda C., Ip, Wendy T. K., Reichelt, Melissa E., Meachem, Sarah J., Simpson, Evan R., Delbridge, Lea M. D.   +7 more
openaire   +5 more sources

A case of Aromatase deficiency due to a novel CYP19A1 mutation. [PDF]

BMC Endocr Disord, 2014
Aromatase deficiency is a rare, autosomal recessive disorder of which there are approximately twenty four case reports. The aromatase enzyme is crucial in the biosynthesis of oestrogens from androgens. The phenotype of aromatase deficiency therefore is the result of androgen excess and oestrogen deficiency in the absence of normal aromatase activity ...
Gagliardi L, Scott HS, Feng J, Torpy DJ.
europepmc   +5 more sources

Treatment of testosterone deficiency syndrome in obese men with type 2 diabetes

Репродуктивная эндокринология, 2022
Objective: to study the effect of testosterone replacement therapy and aromatase inhibitors on the state of androgen supply in men with type 2 diabetes mellitus (DM-2) with obesity. Materials and methods.
Y.V. Luchytskyi, H.A. Zubkova, V.M. Rybalchenko, V.Y. Luchytskyi, I.I. Skladanna   +4 more
doaj   +1 more source