Table 1.
Clinical and Laboratory Findings of 4 Patients (2 Families) With Nonclassic P450scc Deficiency
| Family 1, Patient II:1 (Proband) | Family 2, Patient II:1 | Family 2, Patient II:2 (Proband) | Family 2, Patient II:3 | ||
|---|---|---|---|---|---|
| Gestational age, wk | 41 | 38 | 38 | 37 | |
| Birth weight, g | 3100 | 4280 | 3540 | 3400 | |
| External genitalia | Normal male | Normal male | Normal male | Normal male | |
| Age at presentation, y | 3.6 | 9 | 5 | 4.8 | |
| Presentation | Vomiting, lethargy, hypoglycemia (32 mg/dL) | Vomiting, lethargy, hypoglycemia (39 mg/dL) | Vomiting, abdominal pain, hypoglycemia (20 mg/dL), hyponatremia | Vomiting, abdominal pain, lethargy, hypoglycemia (30 mg/dL), hyponatremia hyperkalemia | |
| Age at evaluation, y | 18a | 13.5 | 8.6 | 5.5 | |
| Tanner stage | 5 | 3 | 1 | 1 | |
| Medications at evaluation | Hydrocortisone, mg/m2/day | 11.9 | 9.2 | 9.4 | 11.3 |
| Fludrocortisone, µg/day | 100 | 50 | 50 | 50 | |
| ACTH, pg/mL (rr: 5–46) | >2500 | 455 | 1049 | 429 | |
| Cortisol, µg/dL | Basal | 3 | 2 | 4.1 | 3.9 |
| 60 minb | 2.5 | 1.7 | 4.1 | 4.1 | |
| Aldosterone, ng/dL (rr: 10–33) | Basal | <3 | 6.9 | <4 | <4 |
| 60 minb | <3 | 6.5 | <4 | <4 | |
| 17-OH pregnenolone, ng/dL (rr: 55–455) | <16 | <16 | <16 | <16 | |
| 17-OH progesterone, ng/dL (rr: 13–120) | 60 | <13 | <13 | <13 | |
| 11-deoxycortisol, ng/dL (rr: 0–89.9) | 46.9 | 21.8 | 50.9 | 22.5 | |
| Androstenedione, ng/dL | 44 (rr: 65–210) | <13 | <13 | <13 | |
| DHEA-S, μg/dL | 16 (rr: 89–457) | <15 | <15 | <15 | |
| PRA, ng/mL/h | 1.1 (rr: 1.2–2.4) | 1.4 (rr: 1.2–2.4) | 3.8 (rr: 0.8–2) | 2.8 (rr: 1.5–3.5) | |
| FSH, mIU/mL | 20.4 (rr: 2.6–11) | 5.5 (rr: 1.2–5.8) | 1.2 (rr: 0.26–3.0) | 0.6 (rr: 0.26–3.0) | |
| LH, mIU/mL | 11.3 (rr: 1–8) | 2.1 (rr: 0.2–5.0) | 0.08 (rr: 0.02–0.3) | 0.094 (rr: 0.02–0.3) | |
| Total testosterone, ng/dL | 370 (rr: 350–970) | 92.9 (rr: 100–320) | <20 | <20 | |
| Scrotal ultrasound | Right testis: 3 hypoechoic lesions: 21 × 10 mm, 12 × 10 mm, 4 × 3 mm. Left testis: 2 hypoechoic lesions: 20 × 10 mm, 13 × 10 mm | Normal | Left testis: 4 × 3 mm hypoechoic lesion | Normal | |
| Adrenal imaging | CT: Bilaterally atrophic adrenal glands | MRI: Bilateral normal adrenal glands without evidence of hyperplasia | Not done | Not done | |
Laboratory evaluation performed at ~0800 h before medication administration. Age- and sex-specific normal ranges specified in parentheses.
Abbreviations: DHEA-S, dehydroepiandrosterone sulfate; PRA, plasma renin activity; rr, reference range, adjusted for age or Tanner stage as needed.
a
Scrotal ultrasound obtained at age 16.
b
60 min after cosyntropin 250 µg.