Table 1

Summary of the clinical details and results of laboratory evaluation of the four boys (Sibs)

Clinical/laboratory parametersSib 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 stageG 4–5G 3–4G 2–3G1
Pubic/axillary/facial hairPresentPresentPubic hair present,
axillary/facial absent
Stretched penile length10 cm8 cm6.1 cm4.3 cm
Testicular volumeLeft=1cc
Right=not palpable
Left=8 cc
Right=not palpable
Right=5 cc
Left=2 cc
Right=not palpable
USG for localising testesLeft 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 pelvisRight 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 doneRight testis not visualised. Left testis as in USG
Hormonal assays (baseline)
LH (mIU/mL)
(NR=1.7–8.6 for adult male)
FSH (mIU/mL)
(NR=1.5–12.4 for adult male)
DHEAS (µg/dL)113898417.58
Testosterone (nmol/L)
(NR=9.9–27.8 for adult male)
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)0.621.220.40<0.30
Testosterone (ng/dL)437967531102.80
DHT (ng/dL)29.963.524.07.9
Testosterone/DHT ratio14.615.222.013.1
  • AMH, anti-Mullerian hormone; DHEAS, dehydroepiandrosterone sulfate; DTH, dihydrotestosterone; FSH, follicle stimulating hormone; LH, luteinising hormone; NR, normal range; USG, ultrasonography.