Turner Syndrome: Examination

A comprehensive clinical examination is the basis for selecting further diagnostic steps:

  • General physical examination – including blood pressure, pulse, body temperature, body weight, height [short stature?]; further:
    • Inspection (viewing).
      • Skin and mucous membranes [marked amount and size of benign (benign) nevi (moles)?]
      • Face [more extensive face?]
      • Eyes [due tosecondary disease keratoconus (progressive, cone-shaped deformation of the cornea of the eye)]
      • Neck, nape [pterygium colli (wing-shaped lateral neck folds/wing fur)? Deep-seated hairline on the nape of the neck?]
      • Thorax (thorax) [shield thorax (broad as well as flat thorax (thorax) incl. wide nipple spacing (distance between nipples))? Funnel chest (pectus excavatum)?]
      • Abdominal wall and inguinal region (groin area).
      • Hands and dorsum of the feet [lymphedema (storage of lymphatic fluid in the tissue)?]
    • Auscultation (listening) of the heart [due tosequelae heart defect].
  • Gynecological examination
    • Inspection
      • Vagina (vaginal) [vaginal hypoplasia (minor development of the vagina (vagina))?]
      • Pectoralis muscle (large chest muscle) [hypoplasia (underdevelopment) or complete absence [due todifferential diagnosis Poland syndrome (absence of a pectoralis muscle and malformation of the ipsilateral mammary gland)]]
    • Palpation (palpation) of the internal genital organs – bimanual (ambidextrous).
      • Uterus (uterus) [uterine hypolasia (minor development of the uterus (uterus))?]
      • Adnexa (appendages of the uterus, i.e., the ovary (ovary) and uterine tubule (fallopian tube)) [Streak gonads (dysgenesis (malformation) of the ovaries (ovaries) = fibrous strands)?]
      • Douglas space (pocket-like bulge of the peritoneum (peritoneum) between the rectum (rectum) behind and uterus (uterus) in front) [uterine hypolasia (minor development of the uterus)?]
    • Examination of the mammae (breasts)
      • Inspection of the mammae (breasts), nipples (nipple) and skin [underdevelopment of secondary sexual characteristics and greater spacing of the nipples?]
      • Palpation of the mammae, both supraclavicular pits (upper clavicular pits) and axillae (axillae) [underdevelopment of secondary sexual characteristics?]
  • Dermatological examination [due tosecondary disease nail dysplasias (nail malformations)]
  • ENT medical examination [due tosecondary disease hypacusis (hearing loss)]
  • Orthopedic examination [due tosecondary disease osteoporosis (bone loss)]
  • Endocrinological examination [due tosecondary diseases diabetes mellitus type 1, hypothyroidism (hypothyroidism)]

Square brackets [ ] indicate possible pathological (pathological) physical findings.