The following symptoms and complaints may indicate Turner syndrome:
Pathognomonic (indicative of a disease).
- Short stature – average expected height (untreated): 147-150 cm.
- Uterine and vaginal hypoplasia – minor development of the vagina (vagina) and uterus (uterus).
- Streak gonads (strand gonads) – dysgenesis (malformation) of the ovaries (ovaries) → connective tissue strands; no to minor synthesis (production) of estrogens → infertility (infertility)Note: This exclusively affects those with the form 45,X/46,XY!
- Primary amenorrhea – failure to menstruate (caused by streak gonads).
Main symptoms
- Pronounced amount and size of benign (benign) nevi (moles).
- Characteristic facial features
- Hypertelorism (excessive distance between the eyes)
- Among other things, more extensive face
- Malformations of internal organs, v. a. heart and aorta (aortic isthmic stenosis), but also kidneys and ureters (ureters).
- Lymphedema (storage of lymphatic fluid in the tissue) of the hands as well as the backs of the feet.
- Minor development of secondary sexual characteristics such as the breast.
- Pterygium colli (wing-shaped lateral neck folds/wing fur).
- Shield thorax – wide as well as flat thorax (chest) including wide nipple spacing (distance between the nipples).
- Deeply seated hairline on the nape of the neck
- Funnel chest (pectus excavatum)
- Delay of puberty
