Turner Syndrome (45,X) - Clinical Examination Proforma

1. Patient Demographics & Stature Evaluation

Name: Patient Name | Age: Years / Months | Sex: Female
Presenting Complaint: Failure of linear growth (short stature) / Delayed puberty / Primary amenorrhea
Height: ... cm | Height Z-score: ... SD (plotted on WHO / IAP chart and Turner-specific curve)
Weight: ... kg | BMI: ... kg/m2 (Centile: ...)
Mid-Parental Target Height (MPTH): (Father's Ht + Mother's Ht - 13 cm) / 2 = ... cm ± 5 cm
Growth Velocity: ... cm/year (Normal pubertal: 6-9 cm/year)
Upper Segment (US): ... cm | Lower Segment (LS): ... cm | US:LS Ratio: ... : 1
Arm Span: ... cm (Difference between Height and Arm Span: ... cm)

Facies: Downward slanting palpebral fissures / Epicanthal folds / Ptosis: Present / Absent
Mouth: High-arched narrow palate / Micrognathia (recessed chin) / Dental crowding
Ears: Low-set, posteriorly rotated pinnae / Recurrent otitis media / Hearing loss
Neck: Pterygium Colli (Webbing of neck: Mastoid to acromion skin folds)
Hairline: Low posterior hairline (M-shaped trident pattern down to cervical spine)

Thorax: Broad shield-shaped chest / Widely spaced nipples / Hypoplastic or inverted nipples
Internipple Distance Index: (Internipple distance / Chest circumference) x 100 = ... % (>28% elevated)
Upper Extremities: Cubitus Valgus (Carrying angle: Right ...° / Left ...° | Normal <15°)
Hands: Short 4th metacarpal (Archibald's sign positive/negative) / Dysplastic, hyperconvex nails
Lower Extremities: Residual lymphedema of dorsum of feet / Genu valgum
Skin: Multiple pigmented melanocytic nevi (Face, neck, forearms) / Keloid tendency

Right Arm BP: ... mmHg | Left Arm BP: ... mmHg
Right Leg (Popliteal) BP: ... mmHg (Upper-to-lower limb systolic gradient >20 mmHg?)
Radial-Femoral Pulse Assessment: Normal / Radio-femoral delay present
Auscultation: Early systolic click + ejection systolic murmur at aortic base (Bicuspid Aortic Valve)
Back Auscultation: Late-systolic blowing murmur in interscapular area (Coarctation of Aorta)

Cytogenetics (Gold Standard): High-Resolution Karyotype: 45,X / Mosaicism / SRY FISH: Negative / Positive
Gonadotropins & Ovarian Reserve: Serum FSH: ... mIU/mL | Serum LH: ... mIU/mL | Estradiol: ... pg/mL
Thyroid & Autoimmune Screen: Serum TSH: ... mIU/L | Free T4: ... | Anti-TPO Antibodies: ... | Anti-tTG IgA: ...
Bone Age: Left hand/wrist radiograph (Greulich & Pyle): ... years (Chronological: ... years)
Echocardiography & Cardiac MRI: Aortic valve morphology: Bicuspid / Tricuspid | Coarctation gradient: ... mmHg
Aortic Size Index (ASI): Ascending aortic diameter (cm) / BSA (m2) = ... cm/m2 (<2.0 Low | >2.5 High risk dissection)
Renal Ultrasound: Horseshoe kidney / Duplex collecting system / Normal

Recombinant Human Growth Hormone (rhGH): 0.045-0.050 mg/kg/day SC bedtime (Initiate at age 4-6y)
Pubertal Induction (Estrogen Priming): Transdermal 17β-estradiol patch 6.25-12.5 mcg/day (Start age 11-12y)
Progestin Addition: Strictly withheld until 2 years of estrogen OR breakthrough bleeding occurs!
Cardiology & BP Control: Beta-blocker / Amlodipine to keep BP <90th centile
Prophylactic Gonadectomy: MANDATORY if Y chromosome material / SRY positive (Gonadoblastoma risk)