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Table 3 Characteristics of confirmed cases

From: The pitfalls associated with urinary steroid metabolite ratios in children undergoing investigations for suspected disorders of steroid synthesis

Sex Age Presenting features Biochemistry Ratios >95 th percentile Actual ratio Diagnosis
M 5y Subclinical salt wasting Testosterone 5.1 17HP/(THE + THF + 5αTHF) 1.5 21-hydroxylase deficiency
Tall stature and sexual precocity 17 OHP: 443 PT/(THE + THF + 5αTHF) 1.1 CYP21A2 mutation
  Androstenedione NA PTONE/(THE + THF + 5αTHF) 11.5  
   THS/(THE + THF + 5αTHF) 0.04  
   DHEA/(THE + THF + 5αTHF) 0.14  
   (17HP + PT)/(An + Et) 15.1  
   (THF + 5αTHF)/THE 16.8  
   THB/5αTHB 5.3  
M 10d Salt wasting presented with vomiting and weight loss. 17 OHP: NA 17HP/(THE + THF + 5αTHF) 0.2 21-hydroxylase deficiency
  Androstenedione NA PT/(THE + THF + 5αTHF) 0.5 CYP21A2 mutation
   PTONE/(THE + THF + 5αTHF) 0.1  
   THE/(THF + 5αTHF) 62.3  
F 13y Presented at 8 yrs with exaggerated adrenarche. Not salt wasting 17 OHP: 118 17HP/(THE + THF + 5αTHF) 0.3 21-hydroxylase deficiency
  Androstenedione 11 PT/(THE + THF + 5αTHF) 0.2  
   PTONE/(THE + THF + 5αTHF) 0.1  
   DHEA/(THE + THF + 5αTHF) 0.7  
F 3y Clitoromegaly with no other signs of virilisation. Not salt wasting 17 OHP 80 17HP/(THE + THF + 5αTHF) 18.6 21-hydroxylase deficiency
  Androstenedione 30 PT/(THE + THF + 5αTHF) 37.2 CYP21A2 mutation
   PTONE/(THE + THF + 5αTHF) 21.6  
   (17HP + PT)/(An + Et) 36.7  
   (An + Et)/(THE + THF + 5αTHF) 1.5  
F 11y Premature adrenarche. On steroid replacement. Hypertensive. 17 OHP 3 THS/(THE + THF + 5αTHF) 0.1 11β-hydroxylase deficiency
  Androstenedione 13.3    
  DOC – NA    
F 2 m Clitoromegaly. Hypertensive. 17 OHP: 3 THS/(THE + THF + 5αTHF) 0.6 11β-hydroxylase deficiency
  Androstenedione < 1.4 PTONE/(THE + THF + 5αTHF) 0.02  
M 8y Bilateral undescended testes, micropenis. DHT < 0.1 Nil   5α − reductase deficiency
Parents consanguineous Androstenedione 1.5    
  Testosterone 0.7    
M 5y Glandular hypospadias. DHT < 0.1 THS/(THE + THF + 5αTHF) 0.04 5α − reductase deficiency
Parents consanguineous. Androstenedione 1.4 Et/An 5.1  
  Testosterone < 0.5 THF/5αTHF 31.8  
  1. USMR: Urinary steroid metabolite ratio. 17HP: 17-hydroxypregnanolone, PT: pregnanetriol, THE: tetrahydrocortisone, THF: tetrahydrocortisol. 5αTHF: 5α-tetrahydrocortisol. An:androsterone. Et: etiocholanolone. DHEA: dehydroepiandrosteroone. PTONE: pregnanetriolone. THS: tetrahydro-11-deoxycortisol. THB: tetrahydrocorticosterone. 5αTHB: 5α-tetrahydrocorticosterone.