Bone Phenotype is Always Present; Androgen Excess is Less Frequently Seen in PAPSS2 Deficiency.

3'-Phosphoadenosine 5'-phosphosulfate synthase 2 (PAPSS2) deficiency is a rare disorder due to biallelic pathogenic variants in the PAPSS2 gene. This disorder was first described in 1998 by Ahmad M, et al. and Faiyaz ul Haque M et al .. So far 79 patients with PAPSS2 deficiency were reported in the literature. The main reported features of these patients are related to bone abnormalities and clinical/biochemical androgen excess. Disproportionate short stature and symptoms associated with spondylar skeletal dysplasia are the most common clinical features that require clinical attention. Androgen excess has been described much less commonly. This review summarises the clinical, molecular, and biochemical features of patients with PAPSS2 deficiency published so far.