Aromatase deficiency
Encyclopedia
Aromatase deficiency is a condition resulting from insufficient production of the enzyme aromatase
, which can lead to inappropriate virilization
.
One notable feature is that it can also affect the mother during gestation that resolves after birth. The deficiency also causes the virilization
of XX fetuses, and although they will have normal female internal genitalia, clitoromegaly
often results from the high androgen
levels in utero, along with ambiguous external genitalia upon birth.
Testosterone
may be normal or elevated.
The lack of estrogen results in the presentation of primary amenorrhea and tall stature; the latter occurs because estrogen normally causes fusion of the epiphyseal growth plates. The gonadotropins LH
and FSH
will both be elevated and patients present with polycystic ovaries. Furthermore, the low estrogen will predispose those with the condition to osteoporosis
.
Aromatase
Aromatase is an enzyme responsible for a key step in the biosynthesis of estrogens. It is a member of the cytochrome P450 superfamily , which are monooxygenases that catalyze many reactions involved in steroidogenesis. In particular, aromatase is responsible for the aromatization of androgens into...
, which can lead to inappropriate virilization
Virilization
In biology and medicine, virilization refers to the biological development of sex differences, changes that make a male body different from a female body. Most of the changes of virilization are produced by androgens...
.
One notable feature is that it can also affect the mother during gestation that resolves after birth. The deficiency also causes the virilization
Virilization
In biology and medicine, virilization refers to the biological development of sex differences, changes that make a male body different from a female body. Most of the changes of virilization are produced by androgens...
of XX fetuses, and although they will have normal female internal genitalia, clitoromegaly
Clitoromegaly
Clitoromegaly is an abnormal enlargement of the clitoris ....
often results from the high androgen
Androgen
Androgen, also called androgenic hormone or testoid, is the generic term for any natural or synthetic compound, usually a steroid hormone, that stimulates or controls the development and maintenance of male characteristics in vertebrates by binding to androgen receptors...
levels in utero, along with ambiguous external genitalia upon birth.
Testosterone
Testosterone
Testosterone is a steroid hormone from the androgen group and is found in mammals, reptiles, birds, and other vertebrates. In mammals, testosterone is primarily secreted in the testes of males and the ovaries of females, although small amounts are also secreted by the adrenal glands...
may be normal or elevated.
The lack of estrogen results in the presentation of primary amenorrhea and tall stature; the latter occurs because estrogen normally causes fusion of the epiphyseal growth plates. The gonadotropins LH
LH
LH, Lh, or lh may stand for:*Laurel and Hardy*Leasehold *Left-handed or left hand*Letterhead, the heading at the top of a sheet of letter paper*lh, a digraph for many languages...
and FSH
FSH
FSH may refer to:* Follicle-stimulating hormone* Fox Sports Houston, a regional Fox Sports Net affiliate station for the Houston, Texas area* Facioscapulohumeral muscular dystrophy* International Civil Aviation Organisation code for Flash Airlines...
will both be elevated and patients present with polycystic ovaries. Furthermore, the low estrogen will predispose those with the condition to osteoporosis
Osteoporosis
Osteoporosis is a disease of bones that leads to an increased risk of fracture. In osteoporosis the bone mineral density is reduced, bone microarchitecture is deteriorating, and the amount and variety of proteins in bone is altered...
.