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

@entity1 @entity251 @entity73 @entity20043 @entity342 @entity4207 @entity444
Background/Aims. Studies on 46,XY @entity444 ( @entity444 ) have focused on molecular, gonadal, genital, and hormone features; little is known about follow-up. Our aim was to analyze long-term outcomes of @entity444 . Methods. Retrospective longitudinal study conducted at a reference service in Brazil. Ten @entity1 were first evaluated in the 1990s and followed up until the 2010s; follow-up ranged from 13.5 to 19.7 years. All were reared as males and had at least one scrotal testis; two bore @entity20043 mutations. Main outcomes were: associated conditions, pubertal development, and growth. Results. All @entity1 had normal motor development but three presented @entity73 ; five had various associated conditions. At the end of the prepubertal period, FSH was high or high-normal in 3/6 @entity1 ; LH was normal in all. At the last evaluation, FSH was high or high-normal in 8/10; LH was high or high-normal in 5/10; @entity251 was decreased in one. Final height in nine cases ranged from -1.57 to 0.80   SDS. All had spontaneous puberty; only one needed @entity342 therapy. Conclusions. There is good prognosis for growth and spontaneous pubertal development but not for fertility. Though additional studies are required, screening for @entity4207 is advisable.
