Aromatase deficiency is a rare autosomal recessive syndrome, caused by mutations in CYP19A1 gene. Aromatase, encoded by the CYP19A1, catalyses the biosynthesis of estrogens. Due to estrogen deficiency, disorders of sex development and progressive virilization at puberty develop in females. In the males, prepubertal development is normal. Delayed epiphyseal closure, eunuchoid body habitus, osteopenia, and osteoporosis develop in both genders.
Category
Endocrine and metabolic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Endocrine diseases
Certain disorders of puberty
5A9Y Other disorders of puberty
H02020 Aromatase deficiency
Pathway-based classification of diseases [BR:br08402]
Lipid/glycolipid metabolism
nt06019 Steroid hormone biosynthesis
H02020 Aromatase deficiency
Mullis PE, Yoshimura N, Kuhlmann B, Lippuner K, Jaeger P, Harada H
Title
Aromatase deficiency in a female who is compound heterozygote for two new point mutations in the P450arom gene: impact of estrogens on hypergonadotropic hypogonadism, multicystic ovaries, and bone densitometry in childhood.