Clinical Study

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

Table 1

Description of the sample and data from the initial evaluation in our service.

Case12345678910

Age at last clinical evaluation (years)18.418,317.715.517.419.817.518.618.517.9

Age at first visit (months)2630.571.54860.53

Maternal age at birth29NA3819234619273219

Paternal age at birth32NA3836235216322823

Pregnancy complicationsHypertensive disorderNABleeding in the 1st trimesterHypertensive disorderHypertensive disorder; preeclampsia

Birth weight (g)3500280030002470*3000355037501650*#28502950

Birth length (cm)484848474851.550414649

Family history of sex ambiguity1st cousin once removedMaternal aunt and great-aunt

Urethral meatusPERPENPERPENPENPENNLPENPERPEN

Right gonad: type, location (age in months)DT, SC (11)Streak, IN (122)DT, SC (36)DT, SC (16)DT, SC (16)NB, SC (108)DT, IN (84)DT, IN (19)DT, IN (26)DT, IN (36)

Left gonad: type, location (age in months)DT, SC (11)DT, IN (122)DT, SC (36)DT, SC (16)DT, SC (16)DT, IN (108)AbsentDT, SC (19)Streak, AB (26)DT, IN (36)

Internal genitaliaNormal maleUGS vagina and uterusUGS blind-ending vaginaNormal maleNormal maleNormal maleNormal maleNormalUGS rudimentary uterusNormal male

Total testosterone (nmol/L) after hCG stimulation test (age in months)1.4 (7)<0.3 (44)<0.3 (30)1.7 (basal testosterone) (0.5)<0.3 (10)1.0 (92)<0.3 (78)<0.3 (13)<0.3 (20)<0.3 (31)

AMH (pmol/L) (age in months)118 (7)71 (44)52 (30)98 (0.5)114 (10)113 (92)73 (78)107 (13)11 (20)25 (31)

AB: abdominal; DT: dysgenetic testis; IN: inguinal; NA: not available; NB: not biopsied (normal at palpation); NL: normal; PEN: penile; PER: perineal; SC: scrotal; UGS: urogenital sinus; AMH: anti-Müllerian hormone; mo: months.
*Small for gestational age; #preterm gestation.
Normal range: 0.5–12 mo = 251–679 pmol/L; 12.01–48 mo = 360–638 pmol/L; 48.01–84 mo = 309–566 pmol/L; 84.01–108 mo = 234–438 pmol/L.