| Age at presentation/Place of Birth |
Presenting Complaints |
Features at presentation |
Clinical diagnosis |
Radiologic investigation |
Investigations done |
Laparatomy/surgery done |
Treatment/outcome |
| (Patient 1)
At birth/Teaching hospital |
Abnormal looking external genitalia |
Clitoral hypertrophy, fused labia, perineal orifice |
Ambiguous genitalia 20 to CAH |
Abdominopelvic USS ovaries and uterus visualized |
Serial S/E/U/Cr normal, Serum glucose normal, Karyotype female, hormonal screen suggest CAH |
Minilaparatomy reveals ovaries and uterus present. |
Sex of rearing female / External genitalia reconstructed at 2years. |
| (Patient 2)
8days/Maternity home |
Referred for short penile shaft noted at circumcision |
Clitoral hypertrophy, absent urethral opening, gonads not palpable |
Clitoral hypertrophy 20 CAH |
No ovarian or testicular tissues appreciated on abdominopelvicScan and Magnetic resonance imaging |
Buccal smear positive for bar body, S/E/U/Cr- Normal. |
None |
Nil/ sex of rearing male/ lost to follow-up |
|
(Patient3)
5weeks/Private clinic |
Ambiguous external genitalia at birth, persistent vomiting |
Hypertrophied clitoris, rudimentary scrotum, orifice in perineum, no gonads palpable |
Ambiguous genitalia 20 to CAH (Classical) Perineal hypospadias |
Ovaries and testicular tissues could not be appreciated |
Na+ 115mmol/l, K+ 6.0mmol/l, HCO2+ 14mmol/l, Urea 15.5mmol/l, Cr. 50umol/l, |
Not yet |
Steroids/ sex of rearing female/ Awaiting karyotype result/ Booked for minilaparatomy. |
| (Patient4)
7months/Private clinic |
Abnormal genitalia from birth |
Clitoral hypertrophy, rudimentary scrotal sac, no urethral opening, non-palpable gonads |
Ambiguous genitalia 20 to CAH |
Abdominopelvic ultrasound scan ( ovaries and testicular tissue not visualize |
S/E/U/Cr (Normal), hormonal screen not done |
None |
Nil/ sex of rearing male/ lost to follow up |
| ( Patient 5)
7years/General hospital |
Swelling in the vagina |
Clitoral hypertrophy |
Ambiguous genitalia 20 to CAH |
Abdominopelvic ultrasound scans not conclusive. |
S/E/U/Cr (Normal), CAH screen not done |
None |
Nil/sex of rearing female/lost to follow-up |
| (Patient 6)
16years/Traditional birth attendant |
16 years/Traditional birth attendant |
Ambiguous genitalia, difficulty in catheterization, Hypertension, Tanner stage 2&3 for breast and pubic hair development respectively. |
CRF with ambiguous genitalia |
Abdominopelvic scan revealed calyceal dilatation. |
Creatinine (1485umol/l), Urea (14.3mmol/l), K+ (5.2mmol/l), HCO (11mmol/l), PCV 17% |
|
Antihypertensive, antibiotics, Dialysis (not done)/sex of rearing female. Outcome –died |