Bone Phenotype is Always Present But Androgen Excess is Less Frequently Seen in PAPSS2 Deficiency
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, cilt.16, sa.1, ss.4-10, 2024 (SCI-Expanded, Scopus, TRDizin)
- Yayın Türü: Makale / Derleme
- Cilt numarası: 16 Sayı: 1
- Basım Tarihi: 2024
- Doi Numarası: 10.4274/jcrpe.galenos.2023.2023-12-10
- Dergi Adı: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CINAHL, MEDLINE, Directory of Open Access Journals, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.4-10
- Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
- Bursa Uludağ Üniversitesi Adresli: Evet
Özet
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 et al. and Faiyaz ul Haque et al. To date, 79 patients with PAPSS2 deficiency have been reported. 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 summarizes the currently published clinical, molecular, and biochemical features of patients with PAPSS2 deficiency.