Summary of the clinical details and results of laboratory evaluation of the four boys (Sibs)
| Clinical/laboratory parameters | Sib 1 (15 years) | Sib 2 (14 years) | Sib 3 (11 years) | Sib 4 (9 years) |
| Age at first orchidopexy (years) | 14 (left sided) | 13.5 (left sided) | 10 (right sided) | 8 (left sided) |
| Genitalia stage | G 4–5 | G 3–4 | G 2–3 | G1 |
| Pubic/axillary/facial hair | Present | Present | Pubic hair present, axillary/facial absent | Absent |
| Stretched penile length | 10 cm | 8 cm | 6.1 cm | 4.3 cm |
| Testicular volume | Left=1cc Right=not palpable | Left=8 cc Right=not palpable | Right=5 cc Left=undescended | Left=2 cc Right=not palpable |
| USG for localising testes | Left testis in scrotum (0.7×0.5 cm). Right testis not localised in line of descent. | Left testis—normal shape/echo texture, 2.5×1.4×2 cm. Right scrotal sac is empty. Right testis is not visualised in line of descent. | Right testis normal shape and echotexture 2.1×1.0 cm. Left testis seen in deep inguinal ring 1.7×1.2 cm. | Left testis in hemiscortum, normal shape and architexture 1.5×0.7 cm in size. Right testis not visualised. |
| MRI pelvis | Right testis not localised. Left testis in scrotum (0.7×0.7 cm). | Right testis not localised. Left testis in scrotum (size as in USG). | Not done | Right testis not visualised. Left testis as in USG |
| Hormonal assays (baseline) | ||||
| LH (mIU/mL) (NR=1.7–8.6 for adult male) | 31.2 | 6.73 | 1.32 | 0.228 |
| FSH (mIU/mL) (NR=1.5–12.4 for adult male) | 91 | 23.56 | 4.17 | 2.93 |
| DHEAS (µg/dL) | 113 | 89 | 84 | 17.58 |
| Testosterone (nmol/L) (NR=9.9–27.8 for adult male) | 12.59 | 15.61 | 4.29 | 0.087 |
| AMH (ng/mL) | 0.571 (NR 0.7–19) | 2.39 (NR 0.7–19) | 5.81(NR 7.4–243) | 23 (NR 7.4–243) |
| Androgen assay (day 4 of beta-human chorionic gonadotropin stimulation) | ||||
| Androstenedione (ng/mL) | 0.62 | 1.22 | 0.40 | <0.30 |
| Testosterone (ng/dL) | 437 | 967 | 531 | 102.80 |
| DHT (ng/dL) | 29.9 | 63.5 | 24.0 | 7.9 |
| Testosterone/DHT ratio | 14.6 | 15.2 | 22.0 | 13.1 |
AMH, anti-Mullerian hormone; DHEAS, dehydroepiandrosterone sulfate; DTH, dihydrotestosterone; FSH, follicle stimulating hormone; LH, luteinising hormone; NR, normal range; USG, ultrasonography.