“…Our searches were based on combinations of the following index terms: DHH , 46, XY gonadal dysplasia, 46, XY gonadal dysgenesis, 46, XY disorder of sex development, neuropathy, Hedgehog signaling pathway and the corresponding terms in Chinese. A total of 25 cases of DHH variants causing 46, XY GD in detail have been reported worldwide so far ( Umehara et al, 2000 ; Canto et al, 2004 ; Das et al, 2011 ; Werner et al, 2015 ; Paris et al, 2017 ; Sato et al, 2017 ; Baldinotti et al, 2018 ; Rothacker et al, 2018 ; Tajouri et al, 2018 ; Ayers et al, 2019 ; Buonocore et al, 2019 ; Neocleous et al, 2019 ; Akter et al, 2021 ; Kalinchenko et al, 2021 ; Mehta et al, 2021 ) (see Table 2 ), including 24 different variant types of missense, deletion, duplication, or transversion, and both homozygous and compound heterozygous variants have been reported. The reported ages ranged from 2.8 to 55 years.…”