Aromatase deficiency caused by mutation of CYP19A1 gene: A case report / 中南大学学报(医学版)
Journal of Central South University(Medical Sciences)
;
(12): 794-800, 2022.
Article
Dans Anglais
| WPRIM
| ID: wpr-939813
ABSTRACT
Aromatase deficiency (AD) is a rare autosomal recessive genetic disease caused by loss-of-function mutations in aromatase gene (CYP19A1), leading to congenital estrogen deficiency syndrome. Both mothers of AD patients during pregnancy and female AD fetus show virilization, while male patients are usually diagnosed in adulthood due to continued height increase and metabolic abnormalities. In 2019, a patient with AD was admitted in the Second Xiangya Hospital. The patient was a 37-year-old adult male who continued to grow linearly after adulthood. His estradiol was below the measurable line, the follicle-stimulating hormone (FSH) increased, bone age delayed, epiphysis unfused, and the bone mass reduced. CYP19A1 gene detection showed that c.1093C>T, p.R365W was homozygous mutation. This disease is rare in clinic. Clinicians need to raise awareness of the disease for early diagnosis and treatment to improve the long-term prognosis of patients.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Aromatase
/
Troubles du développement sexuel de sujets 46, XX
/
Gynécomastie
/
Infertilité masculine
/
Erreurs innées du métabolisme
/
Mutation
Type d'étude:
Étude de dépistage
Limites du sujet:
Adulte
/
Femelle
/
Humains
/
Mâle
/
Grossesse
langue:
Anglais
Texte intégral:
Journal of Central South University(Medical Sciences)
Année:
2022
Type:
Article
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