Aromatase deficiency in a tall man: Case report of two novel mutations and review of literature [PDF]
Bone Reports, 2022 Aromatase (CYP19A1) is the only enzyme known to catalyse the conversion of androgen to estrogen. Aromatase deficiency occurs due to mutation in CYP19A1gene which has an autosomal recessive inheritance pattern.
Pankaj Singhania +8 more
doaj +2 more sources
Aromatase Deficiency in Two Siblings with 46,XX Karyotype Raised as Different Genders: A Novel Mutation (p.R115X) in the CYP19A1 Gene [PDF]
JCRPE, 2020 Aromatase deficiency rarely causes a 46,XX sexual differentiation disorder. The CYP19A1 gene encodes the aromatase enzyme which catalyses the conversion of androgens to oestrogens.
Samim Özen +7 more
doaj +2 more sources
Aromatase deficiency in hematopoietic cells improves glucose tolerance in male mice through skeletal muscle-specific effects. [PDF]
PLoS ONE, 2020 Estrogens are important for maintaining metabolic health in males. However, the key sources of local estrogen production for regulating energy metabolism have not been fully defined.
Katya B Rubinow +4 more
doaj +2 more sources
A Novel Homozygous CYP19A1 Gene Mutation: Aromatase Deficiency Mimicking Congenital Adrenal Hyperplasia in an Infant without Obvious Maternal Virilisation [PDF]
JCRPE, 2019 Aromatase deficiency is a rare, autosomal recessive disorder in which affected patients fail to synthesize normal estrogen. Herein, we report a 46, XX patient born with virilised external genitalia.
Fatma Dursun, Serdar Ceylaner
doaj +2 more sources
Congenital aromatase deficiency in an adult male: A case report of clinical course and symptom reversal with estrogen supplementation [PDF]
Urology Case ReportsCongenital aromatase deficiency is an autosomal recessive CYP19A1 loss-of-function disorder that blocks conversion of androgens to estrogens. A man with homozygous CYP19A1 c.628G > A (exon 5) presented with longstanding fatigue, low libido, and desire to
Peyton Coady +5 more
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Exercise-induced mitochondrial protection in skeletal muscle of ovariectomized mice: A myogenic E2 synthesis-independent mechanism [PDF]
Redox BiologyBackground: Skeletal muscle, a 17β-estradiol (E2)-sensitive tissue, is prone to accelerated aging due to postmenopausal E2 deficiency and subsequent mitochondrial dysfunction.
Xu Tian +10 more
doaj +2 more sources
Aromatase and estrogen receptor α deficiency [PDF]
Fertility and Sterility, 2014 Serdar E Bulun
exaly +2 more sources
Changes in the serum levels of estradiol and in the expression of estrogen receptor alpha in an experimental model of osteoporosis [PDF]
Archives of the Balkan Medical Union, 2022 Introduction. The decrease in serum estrogens concentration at menopause disrupts the metabolic balance and leads to visceral obesity, which causes an increase in serum estradiol levels, through aromatase activity.
Armine V. GRIGORYAN +3 more
doaj +1 more source
Development and Characterization of Inducible Astrocyte-Specific Aromatase Knockout Mice
Biology, 2023 17β-estradiol (E2) is produced in the brain as a neurosteroid, in addition to being an endocrine signal in the periphery. The current animal models for studying brain-derived E2 include global and conditional non-inducible knockout mouse models.
Jing Wang +6 more
doaj +1 more source
The Turkish Journal of Pediatrics, 2020 Background. Aromatase deficiency leading to virilization in mother and female fetuses during pregnancy is a rare disease. It is characterized by impaired estrogen production, increased gonadotropins, and ovarian cysts. Case.
Sezer Acar +11 more
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