دورية أكاديمية
أعرض في EDS

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

التفاصيل البيبلوغرافية
العنوان: Bone Phenotype is Always Present But Androgen Excess is Less Frequently Seen in PAPSS2 Deficiency
المؤلفون: Didem Helvacıoğlu, Tülay Güran
المصدر: JCRPE, Vol 16, Iss 1, Pp 4-10 (2024)
بيانات النشر: Galenos Yayincilik, 2024.
سنة النشر: 2024
المجموعة: LCC:Pediatrics
LCC:Diseases of the endocrine glands. Clinical endocrinology
مصطلحات موضوعية: papss2, androgen excess, sulfation, brachyolmia, semd, dheas, Pediatrics, RJ1-570, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
الوصف: 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.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 1308-5727
1308-5735
العلاقة: https://jag.journalagent.com/z4/download_fulltext.asp?pdir=jcrpe&un=JCRPE-59489Test; https://doaj.org/toc/1308-5727Test; https://doaj.org/toc/1308-5735Test
DOI: 10.4274/jcrpe.galenos.2023.2023-12-10
الوصول الحر: https://doaj.org/article/4ad4f01e7aa044138f97f7d9f79ac8a5Test
رقم الانضمام: edsdoj.4ad4f01e7aa044138f97f7d9f79ac8a5
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:13085727
13085735
DOI:10.4274/jcrpe.galenos.2023.2023-12-10