Table 1.
Summary of relevant investigations
| Parameter | Case 1 (at 6 months of age) |
Case 1 (at 28/12 years of age) |
Case 2 (at 3 years of age) |
Age and sex-specific reference range (identical in 28/12 and 3 years) |
| Karyotype | 46, XX | 46, XX | 46,XX | |
| Sodium | 136 | 137 | 138 | 136–145 mEq/L |
| Potassium | 5.4 | 4.7 | 5.0 | 3.5–5.5 mEq/L |
| 08:00 Serum cortisol | 10.3 (ref: 1.4–27 μg/dL) |
11.2 | 7.27 | 5-21 μg/dL |
| 08:00 Plasma ACTH (iced sample) | 13.2 | 65.2 | <46 pg/mL | |
| Serum cortisol (1-hour postinjection tetracosactide) | 25.3 | 31.32 | >18 μg/dL is normal | |
| 08:00 17-OH progesterone (17-OH-P) | 2.46 (ref.:≤1.47 ng/mL) |
0.61 | 0.46 | ≤1.39 ng/mL |
| 17-OH-P (1-hour postinjection tetracosactide) | 4.2 (<10 ng/mL is normal) |
|||
| Antimullerian hormone | 0.13 ng/mL | 0.05 ng/mL | <0.01 ng/mL | Not defined; usually very low to undetectable |
| DHEAS | 15 (ref.: <74 μg/dL) |
and <15 | 15 | ≤22 μg/dL |
| Total testosterone | ||||
| 08:00 Fasting | 5.47 (ref.: 2–5 ng/dL) |
<7 | 14.8 | 2–10 ng/dL |
| Day 5 of post-hCG stimulation | 14.64 | 16.11 | Rise by more than twice the baseline value is supportive of functioning testicular tissue | |
| Day 20 of post-hCG stimulation | 13 | 12.68 | ||
| Androstenedione | 0.34 | 0.48 | ≤77 ng/dL | |
| Follicle-stimulating hormone | 67.67 and 90.42 | 35.88 | 0.7–3.4 mIU /mL | |
| Luteinising hormone | 3.06 | 1.8 | ≤0.26 mIU/mL | |
| Bone age | 16 months (figure 5) | 18 months (figure 6) | ||
| USG pelvis | Infantile uterus, gonads not visualised | Uterus—1.7×0.5×0.8 cm, right ovary—5×4 mm, left ovary—5×3 mm, no follicles seen | ||
| Genitogram | Low vaginal confluence | |||
| MRI pelvis | Hypoplastic uterus; Ovaries not visualised | Hypoplastic uterus; ovaries are not defined | ||
ACTH, Adrenocorticotropic hormone; DHEAS, dehydroepiandrosterone sulfate; hCG, Human chorionic gonadotropin; USG, ultrasound.