Table 2.
Clinical findings of the two patients.
| Patient 1 (III-1) | Patient 2 (III-2) | Reference range | |
|---|---|---|---|
| Karyotype | 46,XY | 46,XY | |
| Social sex | Male | Male | |
| Present age | 7.8 years | 5.5 years | |
| Age at examination | 2.4 years | 6 months | |
| Genital findings | |||
| Testis size | 1.0 mL (bilateral) | < 1.0 mL (bilateral) | 1.3 ± 0.3 |
| Hypospadias | Yes (penile type) | Yes (penile type) | |
| Chordee | Yes | No data | |
| Cryptorchidism | No | Bilateral (inguinal) | |
| Penile length | 2.5–3.0 cm | 1.8 cm | 3.3 ± 0.4 (for patient 1); 3.1 ± 0.4 (for patient 2) |
| (after TE 25 mg i.m., 3ʹ) | (after TE 25 mg i.m., 3ʹ) | ||
| Uterus/vagina | Absent on MRI | Absent on MRI | |
| Endocrine findings | |||
| LH (IU/mL) | |||
| Baselinea | < 0.3 | 6.6 | < 0.4 |
| Peaka | 1.1 | 108.7 | 0.4–6.0 |
| FSH (IU/mL) | |||
| Baselinea | 1.1 | 71.3 | 0.6–3.0 |
| Peaka | 8.0 | 238.5 | 6.3–15.6 |
| Testosterone (nmol/L) | |||
| Baselineb | < 0.10 | 1.56 | 0.10–0.45 |
| Stimulatedb | 5.79 | 3.50 | > 6.93 |
| DHT (nmol/L) | |||
| Baselineb | Not measured | Not measured | |
| Stimulatedb | 0.18 | 0.24 | No reference |
| T/DHT ratio | |||
| Stimulatedb | 9.3 | 4.2 | < 10.5 |
| AMH (pmol/L) | |||
| Baseline | 449.3 | 16.4 | 699 ± 245 (for patient 1); 793 ± 264 (for patient 2) |
| Treatment | |||
| Orchidopexy | No | 1.0 and 2.2 years | |
| Urethroplasty | 11 months and 2.1 years | 3.2 years | |
| Chordee repair | 11 months | No | |
| Penile length after Tx | 3.0 cm at 3.5 years after further Tx with TE 25 mg i.m., 1ʹ and DHT topical ointment for 3 months | 2.3 cm at 2.3 years after further Tx with TE 25 mg i.m., 2ʹ and DHT topical ointment for 5 months | 3.4 ± 1.0 (for patient 1); 3.3 ± 0.4 (for patient 2) |
TE, testosterone enanthate; MRI, magnetic resonance imaging; LH, luteinizing hormone; FSH, follicle stimulating hormone; T, testosterone; DHT, dihydrotestosterone; AMH, anti Müllerian hormone; and Tx, treatment.
aBasal and peak values during a gonadotropin releasing hormone stimulation test (100 µg/m2 [max. 100 µg] bolus i.v.; blood sampling at 0, 30, 60, 90, and 120 min).
bBasal and stimulated values in a human chorionic gonadotropin stimulation test (3000 IU/m2/dose [max. 5000 IU] i.m. for 3 consecutive days; blood sampling on days 1 and 4).