The following are the most important diseases or complications that may be contributed to by Turner syndrome:
Congenital malformations, deformities, and chromosomal abnormalities (Q00-Q99).
- Aortic isthmic stenosis (ISTA; synonym: coarctation of the aorta: coarctatio aortae) – narrowing of the descending portion of the aorta; prevalence (disease incidence): 11%.
- Bicuspid aortic valve – heart valve defect, where only two pocket valves (valvulae) of the aorta are found; prevalence: 16%.
- Cubitus valgus (abnormal position of the elbow with increased radial deviation of the forearm to the upper arm).
- Malformations of the urinary tract
- Gonadal dysgenesis (maldevelopment of the ovaries) – resulting in infertility (infertility), so that ovulation (ovulation) is not possible
- Horseshoe kidney (pathological fusion of both kidneys); prevalence: about 15%.
- Hypertelorism (oversized interpupillary distance).
- Nail dysplasias (nail malformations)
- Renal agenesis (congenital absence of the kidneys).
- Ear dysplasias (ear malformations).
- Shortening of the fifth metacarpal (metacarpal bone).
Eyes and eye appendages (H00-H59).
- Keratoconus (progressive, cone-shaped deformation of the cornea of the eye).
Endocrine, nutritional, and metabolic diseases (E00-E90).
- Diabetes mellitus type 1
- Hypothyroidism (underactive thyroid gland)
- Short stature
- Pubertas tarda – delayed or even completely absent development of puberty.
Mouth, esophagus (food pipe), stomach, and intestines (K00-K67; K90-K93).
- Celiac disease (gluten-induced enteropathy) – chronic disease of the small intestinal mucosa (lining of the small intestine) due to hypersensitivity to the cereal protein gluten.
Musculoskeletal system and connective tissue (M00-M99).
- Osteoporosis (bone loss)
Ears – mastoid process (H60-H95)
- Hypacusis (hearing loss)
- Otitis media (inflammation of the middle ear), primarily in childhood.
