Clinical Study

Long-Term Follow-Up of Patients with 46,XY Partial Gonadal Dysgenesis Reared as Males

Table 3

Data on growth, puberty, semen analysis, and surgical procedures undergone by ten patients with partial gonadal dysgenesis.

Patient12345678910

Target height (cm)168.3171.5165.5170182.2169.7170.5182.5176.7

Target height ( score)−1.17−0.73−1.57−0.94+0.77−0.99−0.87+0.80−0.0

Final height (cm) 170.2175165*175165.5180171171174

Final height ( score)−0.89−0.19−1.51−0.11−1.58+0.57−0.76−0.76+0.30

Age of pubarche12.59.51312.511.51511.510.51113.5

Tanner staging at last visit (years)G4P5 (18.4)G5P5 (18.3)G4P4 (17.7)G4P4 (15.5)G5P5 (17.4)G5P5 (19.8)G4P4 (17.5)G4P4 (18.6)G5P5 (18.5)G3P3# (17.6)/G4P4 (17.9)

Testicular volume (mL) at last visit (right/left)NA4/82/56/812/1220/—20/—10/20NA—/8

Sperm analysis (optical microscopy)NPNPNPNPLow viscosity, rare spz (some motile)High viscosity, rare spz (all immotile)Normal viscosity, rare spz (some motile)NPNPNP

Surgical proceduresOrthophalloplasty (11 mo); hypospadias correction (4 surgeries between 1 and 2 y)Orchidopexy + hypospadias correction (2 y 8 mo)Orchidopexy (3 y 3 mo); hypospadias correction (7 y); fistula correction (12, 13, 14, and 18 y)Hypospadias correction (1 y 7 mo); fistula correction (2 y 8 mo and 2 y 9 mo)Hypospadias correction (1 y 4 mo); fistula correction (4 y and 5 y)Hypospadias correction (8 y 8 mo); fistula correction (9 and 12 y)Orchidopexy (5 y)Orchidopexy + orthophalloplasty (2 y 5 mo); fistula correction (3, 4, and 14 y)Orchidopexy + hypospadias correction (2 y 2 m); fistula correction (5 and 9 y)Inguinal hernia correction + orchidopexy (3 m); hypospadias correction (4 y)

Did not attain final height; #before testosterone replacement and associated with gynecomastia; after testosterone replacement; NA: not available; NP: not performed; spz: spermatozoa.