دورية أكاديمية
A Long-term Follow-up of a Late Diagnosed Patient with Temple Syndrome - a Case Report.
| العنوان: | A Long-term Follow-up of a Late Diagnosed Patient with Temple Syndrome - a Case Report. |
|---|---|
| المؤلفون: | Yordanova N; Dept. of Pediatrics, Medical University - Varna, Bulgaria., Iotova V; Dept. of Pediatrics, Medical University - Varna, Bulgaria., Mackay DJG; Wessex Regional Genetics Laboratory, Salisbury Foundation NHS Trust, Salisbury, UK.; Faculty of Medicine, University of Southampton, Southampton, UK., Temple IK; Faculty of Medicine, University of Southampton, Southampton, UK., Stoyanova S; Dept. of Pediatrics, Medical University - Varna, Bulgaria., Hachmeriyan M; Dept. of Medical Genetics, Medical University - Varna, Bulgaria. |
| المصدر: | Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2023 Feb 02. Date of Electronic Publication: 2023 Feb 02. |
| Publication Model: | Ahead of Print |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Galenos Yayınevi Country of Publication: Turkey NLM ID: 101519456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1308-5735 (Electronic) NLM ISO Abbreviation: J Clin Res Pediatr Endocrinol Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Istanbul : Galenos Yayınevi Original Publication: Istanbul : Turkish Pediatric Endocrinology and Diabetes Society |
| مستخلص: | Temple syndrome (TS) is a rare imprinting disorder, caused by alterations in the critical imprinted region 14q32 of chromosome 14. It is characterized by pre- and postnatal growth retardation, truncal hypotonia and facial dysmorphism in the neonatal period. We report a 18-year-old girl with a late diagnosis presenting all typical signs and symptoms of Temple syndrome - small for gestational age at birth, feeding difficulties, muscle hypotonia and delayed developmental milestones, central precocious puberty, truncal obesity and reduced growth. The patient is the second reported in the literature with signs of clinical and biochemical hyperandrogenism and the first treated with Dehydrocortisone®, with a good response. The clinical diagnosis of this patient was achieved after a long-term follow up at a single center of rare endocrine diseases, and a molecular genetics diagnosis of complete hypomethylation of 14q32 chromosome imprinting center (DLK/GTL2) was recently established. Growth hormone (GH) treatment was not given and although precocious puberty was treated in line with standard protocols, patient's final height remained below the target range. Increased awareness of Temple syndrome and timely molecular diagnosis enables improvement of clinical care of these patients as well as prevention of inherent metabolic consequences. |
| فهرسة مساهمة: | Keywords: Temple syndrome (TS); late diagnosis; long-term follow-up |
| تواريخ الأحداث: | Date Created: 20230202 Latest Revision: 20240216 |
| رمز التحديث: | 20240216 |
| DOI: | 10.4274/jcrpe.galenos.2022.2022-9-19 |
| PMID: | 36728278 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1308-5735 |
|---|---|
| DOI: | 10.4274/jcrpe.galenos.2022.2022-9-19 |