Definition: Genetic condition in which a female does not have the usual pair of two X chromosomes. The condition only occurs in females. Most commonly, the female patient has only one X chromosome – “monosomy X”. Others may have two X chromosomes, but one of them is incomplete. In some cases, the chromosome is missing in some cells but not others “mosaicism”.
Etiology: Genetic mosaicism (46XX/45XO), nondisjunction (45XO), and partial monosomy (46XX). During conception, part of all of the second sex chromosome is not transferred to the fetus.
Frequency: 1:2000
Clinical features:
Possible symptoms in young infants:
- Lymphedema: swollen hands and feet
- wide and webbed neck
Possible general symptoms:
- short height
- increased weight, obesity
- absent or incomplete development at puberty
o sparse pubic hair and small breasts
- broad, flat chest shaped like a shield “shield chest”
- drooping eyelids
- dry eyes
- low hairline
- low-set ears
- infertility
- absent menstruation
- vaginal dryness, can lead to painful intercourse
Oral features:
- micrognathia: small lower jaw
- high-arched palate
Treatment:
Short height -> Growth Hormone
Lack of development of sexual characteristics -> Estrogen
Infertility -> Donor Egg
Concurrent Complications:
- congenital heart disease and other cardiac problems
- horseshoe kidney
- hypothyroidism
- diabetes
- vision problems
- hearing problems
- autoimmune diseases
- ADHD
- cognitive deficits (visuospatial, mathematical, and memory areas)
No comments:
Post a Comment