Total 23 clinical symptoms reported for Aromatase deficiency
Ambiguous genitalia, female |
Ambiguous genitalia in an individual with XX genetic gender.
Synonyms:Atypical appearance of female genitals |
Very frequent |
Bone pain |
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.
Synonyms:Bone pain |
Very frequent |
Cryptorchidism |
Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.
Synonyms:Cryptorchism; Undescended testes; Undescended testis |
Very frequent |
Delayed epiphyseal ossification |
Synonyms:Delayed epiphyseal maturation; Delayed epiphyseal ossification; Delayed opacification of the epiphyses; Epiphyseal ossification delay |
Very frequent |
Delayed skeletal maturation |
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Synonyms:Delayed bone age; Delayed bone age before puberty; Delayed bone maturation; Delayed skeletal development; Retarded bone age; Skeletal maturation retardation |
Very frequent |
Enlarged polycystic ovaries |
Synonyms:Enlarged ovaries with cysts |
Very frequent |
Eunuchoid habitus |
A body habitus that is tall, slim and underweight, with long legs and long arms (i.e., arm span exceeds height by 5 cm or more).
|
Very frequent |
Female infertility |
Synonyms:Female infertility |
Very frequent |
Female pseudohermaphroditism |
Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In female pseudohermaphroditism, the genotype is female (XX) and the gonads are ovaries, but the external genitalia are virilized.
|
Very frequent |
Genu valgum |
The legs angle inward, such that the knees are close together and the ankles far apart.
Synonyms:Genu valga; Genu valgus; Genua valga; Knee joint valgus deformity; Knock knees |
Very frequent |
Growth delay |
A deficiency or slowing down of growth pre- and postnatally.
Synonyms:Delayed growth; Growth deficiency; Growth delay; Growth failure; Growth retardation; Poor growth; Retarded growth |
Very frequent |
Hypergonadotropic hypogonadism |
Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay.
Synonyms:Hypergonadotrophic hypogonadism; Primary hypogonadism |
Very frequent |
Male infertility |
Synonyms:Male infertility |
Very frequent |
Maternal virilization in pregnancy |
Virilization (deepening of voice, facial hirsutism and scalp hair loss) with onset during pregnancy (usually towards the end of the first trimester) and regression several months post-partum.
|
Very frequent |
Obesity |
Accumulation of substantial excess body fat.
Synonyms:Having too much body fat; Obesity |
Very frequent |
Osteopenia |
Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.
Synonyms:Generalized osteopenia |
Very frequent |
Osteoporosis |
Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).
|
Very frequent |
Primary amenorrhea |
This information is currently in development.
|
Very frequent |
Tall stature |
A height above that which is expected according to age and gender norms.
Synonyms:Accelerated linear growth; Increased body height; Increased linear growth; Tall stature |
Very frequent |