Disorders of Sex Development (DSD) & Atypical Genitalia - Bedside Clinical Proforma

1. Patient Demographics & Referral Context

Mother's Name: Mother's Name | Baby's Name / ID: Baby of ...
Age: Days of Life | Sex Assigned at Birth: Unassigned / Male / Female
Gestation: Completed Weeks | Birth Weight: Grams
Parental Consanguinity: Present (Degree: First cousins / Uncle-niece) / Absent
Family History: Unexplained early neonatal deaths (Day 5-14) / Salt-wasting crisis / Infertility / Amenorrhea
Maternal Pregnancy History: Maternal virilization during pregnancy (acne, voice deepening - Aromatase deficiency / Luteoma) / Progestin exposure

Phallic Structure:
- Stretched Phallic Length (SPL): ... cm (Normal term male: 3.5 ± 0.4 cm | Micropenis <2.5 cm | Clitoris <0.6 cm)
- Phallic Diameter: ... cm | Chordee: Present (Ventral / Lateral) / Absent
- Prepuce: Complete circular / Dorsal hooded prepuce
Urethral Meatus Position:
- Location: Glanular / Coronal / Mid-shaft / Penoscrotal / Perineal
- Number of Orifices: Single common urogenital sinus orifice / Two separate orifices (urethral & vaginal)
Labioscrotal / Scrotal Folds:
- Fusion: Absent / Partial posterior / Complete scrotalization
- Hyperpigmentation: Present (High ACTH in CAH) / Absent
- Rugosity: Smooth / Well-formed scrotal rugae
Gonadal Palpation (THE CRITICAL AXIS):
- Right Gonad: Palpable in scrotum / Inguinal canal / Deep ring / Non-palpable | Consistency: Firm / Soft
- Left Gonad: Palpable in scrotum / Inguinal canal / Deep ring / Non-palpable | Size: ... mL
- Diagnostic Rule: Bilateral non-palpable = Presume 46,XX CAH until proven otherwise!
Prader Virilization Staging (For Virilized Females):
- Stage 1: Clitoromegaly only
- Stage 2: Clitoromegaly + posterior labial fusion
- Stage 3: Greater clitoromegaly + single urogenital sinus orifice at base of phallus
- Stage 4: Phallic urethra + complete scrotalization (empty scrotum)
- Stage 5: Normal phenotypic male appearance without palpable testes
- Observed Stage: Prader Stage ...

Clinical Signs: Vomiting / Poor feeding / Dehydration / Lethargy / Circulatory shock (Days 5 to 14 of life)
Serum Electrolytes: Sodium: ... mEq/L (Hyponatremia <130?) | Potassium: ... mEq/L (Hyperkalemia >6.0?)
Blood Glucose: ... mg/dL (Hypoglycemia <45?) | Blood Urea Nitrogen / Creatinine: ... mg/dL
Venous Blood Gas: pH: ... | HCO3: ... mEq/L | Base Deficit: ... mmol/L (Metabolic Acidosis)
Serum 17-Hydroxyprogesterone (17-OHP): ... ng/mL (Normal <2.0 ng/mL | Diagnostic CAH >10-20 ng/mL)

Vascular Access: 2 peripheral lines / IO needle
Fluid Bolus: Normal Saline (0.9% NaCl) 20 mL/kg over 20-30 mins (Repeat if perfusion poor; NO Potassium!)
Hypoglycemia Correction: 10% Dextrose 2 mL/kg slow IV bolus
Myocardial Membrane Stabilization (if peaked T waves): 10% Calcium Gluconate 0.5-1.0 mL/kg IV over 5-10m
Stress Glucocorticoid: Inj. Hydrocortisone sodium succinate 25 mg IV bolus (or 50-100 mg/m2)

Karyotype (G-banding): 46,XX / 46,XY / Mosaic (45,X/46,XY)
SRY Gene Fluorescence In Situ Hybridization (FISH): Positive / Negative
Pelvic Ultrasound: Uterus present (Mullerian structures intact) / Absent | Ovaries / Testes visualized | Adrenals enlarged (cerebriform)
Retrograde Genitogram / Cystourethroscopy: Common channel length: ... cm (Low <3 cm vs High >3 cm)
Molecular Genetics: CYP21A2 mutation sequencing (Homozygous / Compound Heterozygous)

Oral Hydrocortisone: 10-15 mg/m2/day divided into 3 equal or nocturnal-weighted doses
Oral Fludrocortisone: 0.1-0.2 mg/day once daily
Sodium Chloride Supplementation: 1-2 g/day (17-34 mEq/day) in feeds
Sick-Day Parental Guidance: Double or triple oral hydrocortisone during fever/illness; emergency IM kit
Gender Assignment: Declared by multidisciplinary team (Pediatric Endocrine, Genetics, Urology, Psychology)
Surgical Timing: Feminizing genitoplasty (clitoroplasty + vaginoplasty) deferred to 6-12 months or later